Search Results

Test Descriptions Found:

1194

Searched:

Sanger

Panel(s) Available Method Price
Single Gene Test(s) Available Method Price
Dilated Cardiomyopathy and Limb-Girdle Muscular Dystrophy Type 2F via SGCD Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the PLN Gene
Sanger Sequencing
$370.00
Del/Dup via aCGH
$990.00
Barth Syndrome via TAZ Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Hypertrophic Cardiomyopathy via MYL2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Hypertrophic Cardiomyopathy via MYL3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via TPM1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Hypertrophic Cardiomyopathy and Related Disorders via TNNI3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Hypertrophic Cardiomyopathy and Related Disorders via TNNT2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Hypertrophic Cardiomyopathy via TNNC1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
PRKAG2-Related Disorders via the PRKAG2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$910.00
Del/Dup via aCGH
$990.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the TMEM43 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Heterotaxy, Visceral 5 (HTX5) via NODAL Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
X-linked Heterotaxy (HTX1) via ZIC3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$590.00
Heterotaxy, Visceral 4 (HTX4) via the ACVR2B Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Del/Dup via aCGH
$990.00
Papillon-Lefevre Syndrome (PLS) via CTSC Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$770.00
Dentinogenesis Imperfecta (DGI) and Dentin Dysplasia (DD) via DSPP Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$680
Fanconi Anemia via the FANCL Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$910.00
Del/Dup via aCGH
$990.00
Hermansky-Pudlak Syndrome Type 8 (HPS8) via BLOC1S3 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$440
Griscelli Syndrome-Type 2 (GS2) via RAB27A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Familial Hemophagocytic Lymphohistiocytosis-Type 5 (FHL5) via the STXBP2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$960.00
Del/Dup via aCGH
$990.00
Familial Hemophagocytic Lymphohistiocytosis-Type 2 (FHL2) via PRF1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$590.00
Familial Hemophagocytic Lymphohistiocytosis-Type 4 (FHL4) via the STX11 Gene
Sanger Sequencing
$480.00
Del/Dup via aCGH
$990.00
Lymphedema-Distichiasis Syndrome via FOXC2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$560.00
Lymphedema with Hypotrichosis and Telangiectasia via SOX18 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$590.00
Hennekam Lymphangiectasia-Lymphedema Syndrome via the CCBE1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Hereditary Lymphedema via GJC2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Thrombotic Thrombocytopenic Purpura (TTP) via the ADAMTS13 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1220.00
Del/Dup via aCGH
$990.00
Bernard-Soulier Syndrome via GP1BA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Bernard-Soulier Syndrome via GP1BB Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Bernard-Soulier Syndrome via the GP9 Gene
Sanger Sequencing
$370.00
Del/Dup via aCGH
$990.00
Thrombocytopenia via the MASTL Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$890.00
Del/Dup via aCGH
$990.00
Wiskott-Aldrich Syndrome, X-linked Thrombocytopenia, and X-linked Congenital Neutropenia, via the WAS Gene
Sanger Sequencing
$710.00
Del/Dup via aCGH
$990.00
Severe Congenital Neutropenia via GFI1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$670.00
Leukocyte Adhesion Deficiency Type 2 (LADII) via the SLC35C1 Gene
Sanger Sequencing
$490.00
Del/Dup via aCGH
$990.00
Short Chain Acyl-CoA Dehydrogenase Deficiency via ACADS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$730.00
ALS2-Related Disorders via ALS2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1650.00
Smith-Lemli-Opitz Syndrome via DHCR7 Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing and Del/Dup
$640.00
Carbamoylphosphate Synthetase I Deficiency via the CPS1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1750.00
Del/Dup via aCGH
$990.00
Fanconi-Bickel Syndrome via the SLC2A2 Gene
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance via the OPHN1 Gene
Sanger Sequencing
$1190.00
Del/Dup via aCGH
$990.00
Glycogen Storage Disease Type Ib via SLC37A4 (G6PT1) Gene Sequencing with CNV Detection
Sanger Sequencing
$670
Sequencing and Del/Dup
$640.00
Trimethylaminuria via FMO3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Paroxysmal Paralytic Rhabdomyolysis via LPIN1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1080.00
Glycogen Storage Disease Type IX via PHKG2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Fructose-1,6-Bisphosphatase Deficiency via FBP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Creatine Deficiency Syndrome via GATM Gene Sequencing with CNV Detection
Sanger Sequencing
$690
Sequencing and Del/Dup
$640.00
Danon Disease/Glycogen Storage Disease IIb via the LAMP2 Gene
Sanger Sequencing
$690.00
Del/Dup via aCGH
$990.00
Maple Syrup Urine Disease Type IB via BCKDHB Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing and Del/Dup
$640.00
Congenital Disorders of Glycosylation, Type Ig (CDG Ig) via ALG12 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Congenital Disorders of Glycosylation, Type Ii (CDG Ii) via ALG2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Congenital Disorders of Glycosylation, Type Ih (CDG Ih) via ALG8 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$810
Congenital Disorders of Glycosylation, Type If (CDG If) via MPDU1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Congenital Disorders of Glycosylation, Type Id (CDG Id) via ALG3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Tyrosinemia, Type I via FAH Gene Sequencing with CNV Detection
Sanger Sequencing
$580
Sequencing and Del/Dup
$640.00
Farber Lipogranulomatosis via ASAH1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Knobloch Syndrome, Type I via COL18A1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1750.00
Joubert Syndrome via the ARL13B Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$710.00
Del/Dup via aCGH
$990.00
RHO-Related Disorders via RHO Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Cranioectodermal Dysplasia 2 (CED2) / Short-Rib Polydactyly Syndromes Type 5 (SRP5) via the WDR35 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1360.00
Del/Dup via aCGH
$990.00
Retinitis Pigmentosa via IMPDH1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Leber Congenital Amaurosis via CRX Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Retinitis Pigmentosa via PRPF31 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Meckel-Gruber Syndrome / Joubert Syndrome via the TCTN2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1010.00
Del/Dup via aCGH
$990.00
TULP1-Associated Disorders via TULP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Nephronophthisis and Joubert Syndrome via the NPHP1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1050.00
Del/Dup via aCGH
$990.00
Retinitis Pigmentosa via the PDE6A Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1130.00
Del/Dup via aCGH
$990.00
PDE6B Related Disorders via the PDE6B Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1130.00
Del/Dup via aCGH
$990.00
Nephronophthisis via the INVS / NPHP2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$940.00
Del/Dup via aCGH
$990.00
Nephronophthisis and Senior-Loken syndrome via the NPHP3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1250.00
Del/Dup via aCGH
$990.00
Retinitis Pigmentosa via CNGB1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1340.00
Nephronophthisis via the NPHP4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1280.00
Del/Dup via aCGH
$990.00
Nephronophthisis via GLIS2/NPHP7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Achromatopsia via the PDE6C Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1160.00
Del/Dup via aCGH
$990.00
Nephronophthisis via NEK8/NPHP9 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Usher Syndrome Type 2 and Deafness, Autosomal Recessive 31 (DFNB31) via the WHRN Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$870.00
Del/Dup via aCGH
$990.00
Nephronophthisis-Like Nephropathy-1 (NPHPL1) via XPNPEP3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$790.00
X-linked Retinitis Pigmentosa (XLRP) via RP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$590.00
Sotos Syndrome via the NSD1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1540.00
Del/Dup via aCGH
$990.00
Robinow Syndrome and Autosomal Recessive Brachydactyly, Type B1 via ROR2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Integrin Alpha 7-Related Congenital Myopathy via the ITGA7 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1190.00
Del/Dup via aCGH
$990.00
Nemaline Myopathy 7 via CFL2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Selenoprotein N, 1 via the SELENON/SEPN1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$860.00
Del/Dup via aCGH
$990.00
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via TNNI2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNT3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$860.00
Del/Dup via aCGH
$990.00
Distal Myopathy 2 via MATR3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Male Infertility with Large-Headed Spermatozoa via AURKC Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Spinal Muscular Atrophy with Respiratory Distress Type 1 via the IGHMBP2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$910.00
Del/Dup via aCGH
$990.00
Hutchinson-Gilford Progeria Syndrome (HGPS) via the LMNA Gene
Sanger Sequencing
$610.00
Del/Dup via aCGH
$990.00
Primary Ciliary Dyskinesia (PCD) via RSPH4A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$690.00
Primary Ciliary Dyskinesia (PCD) via RSPH9 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Primary Ciliary Dyskinesia (PCD) via NME8 (TXNDC3) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$890.00
Primary Ciliary Dyskinesia (PCD) via DNAL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$690.00
Myopathy, Congenital via TPM3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
α-Actin (Skeletal Muscle Form)-Related Myopathy via ACTA1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Myofibrillar Myopathy via CRYAB Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$440
Myofibrillar Myopathy via DES Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Myofibrillar Myopathy via the LDB3 (ZASP) Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$940.00
Del/Dup via aCGH
$990.00
Myotilinopathy via MYOT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Glycyl tRNA Synthetase-Related Disorders via the GARS Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$940.00
Del/Dup via aCGH
$990.00
Dystroglycanopathy via DAG1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Limb Girdle Muscular Dystrophy, Type 2J and Tibial Muscular Dystrophy via the TTN Gene (exons 307 - 312)
Sanger Sequencing
$1220.00
Del/Dup via aCGH
$990.00
Heat Shock 27 kDa Protein-Related Disorders via the HSPB1 Gene
Sanger Sequencing
$440.00
Del/Dup via aCGH
$990.00
Heat Shock 22 kDa Protein-Related Disorders via the HSPB8 Gene
Sanger Sequencing
$460.00
Del/Dup via aCGH
$990.00
Restrictive Dermopathy and Mandibuloacral Dysplasia with Type B Lipodystrophy via ZMPSTE24 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome via CHRNA1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Congenital Myasthenic Syndromes via the CHRNB1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$710.00
Del/Dup via aCGH
$990.00
Congenital Myasthenic Syndromes and Multiple Pterygium Syndrome via the CHRND Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$770.00
Del/Dup via aCGH
$990.00
Multiple Pterygium Syndrome via the CHRNG Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Congenital Myasthenic Syndrome via the MUSK Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$930.00
Del/Dup via aCGH
$990.00
Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via SLC52A3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$630.00
Seipin-Related Disorders via the BSCL2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Congenital Disorders of Glycosylation, Type Ie (CDG Ie) via DPM1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Congenital Disorders of Glycosylation, Type Io Plus Secondary Dystroglycanopathy via DPM3 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Holoprosencephaly-3 (Autosomal Dominant Nonsyndromic) via SHH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$670.00
Holoprosencephaly-5 (Autosomal Dominant, Nonsyndromic) via the ZIC2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$730.00
Del/Dup via aCGH
$990.00
Holoprosencephaly-2 (Autosomal Dominant, Nonsyndromic) via SIX3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$560.00
Holoprosencephaly-4 (Autosomal Dominant, Nonsyndromic) via the TGIF1 Gene
Sanger Sequencing
$440.00
Del/Dup via aCGH
$990.00
Holoprosencephaly-9 (Autosomal Dominant, Nonsyndromic) via the GLI2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1080.00
Del/Dup via aCGH
$990.00
Autosomal Dominant, Non-Syndromic Holoprosencephaly via GAS1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$440.00
Microform Holoprosencephaly (HPE10) via the DISP1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$940.00
Del/Dup via aCGH
$990.00
Myofibrillar Myopathy, Childhood Onset via BAG3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$910.00
Del/Dup via aCGH
$990.00
3-Methylcrotonyl-CoA Carboxylase Deficiency via MCCC1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Nemaline Myopathy With Cores (NEM6) via KBTBD13 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Neutral Lipid Storage Disease with Myopathy via the PNPLA2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$820.00
Del/Dup via aCGH
$990.00
Congenital Muscular Dystrophy, Megaconial Type via the CHKB Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$710.00
Del/Dup via aCGH
$990.00
Autosomal Recessive Spinocerebellar Ataxia-10 via ANO10 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$860
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Dynamin-2 Related Disorders via the DNM2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1160.00
Del/Dup via aCGH
$990.00
Type VI Collagenopathy via the COL6A2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1230.00
Del/Dup via aCGH
$990.00
Retinitis Pigmentosa via PRPF8 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1750.00
Retinitis Pigmentosa via the PRPF3 Gene
Sanger Sequencing
$870.00
Del/Dup via aCGH
$990.00
Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene, Exon 10
Sanger Sequencing
$250.00
Del/Dup via aCGH
$990.00
Stuttering via the NAGPA Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$710.00
Del/Dup via aCGH
$990.00
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene (Mexican Exon 55 Mutation)
Sanger Sequencing
$250.00
Del/Dup via aCGH
$990.00
Nemaline Myopathy 5 (Amish Nemaline Myopathy) via the TNNT1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Laminopathies via the LMNA Gene
Sanger Sequencing
$610.00
Del/Dup via aCGH
$990.00
Usher Syndrome Type 1 via USH1G Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Fukuyama Congenital Muscular Dystrophy via the FKTN Japanese Founder Mutation
Sanger Sequencing
$250.00
Del/Dup via aCGH
$990.00
Amyotrophic Lateral Sclerosis via UBQLN2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Early-Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia (EMARDD) via the MEGF10 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1210.00
Del/Dup via aCGH
$990.00
GLE1-Related Disorders via the GLE1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1020.00
Del/Dup via aCGH
$990.00
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E (LGMD1E) via the DNAJB6 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$770.00
Del/Dup via aCGH
$990.00
Plectinopathy via the PLEC Gene
Sanger Sequencing
$2420.00
Del/Dup via aCGH
$990.00
Giant Axonal Neuropathy via the GAN Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$840.00
Del/Dup via aCGH
$990.00
NSDHL-Related Disorders via NSDHL Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Alagille Syndrome-1 via the JAG1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1090.00
Del/Dup via aCGH
$990.00
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VIPAS39 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1020.00
Del/Dup via aCGH
$990.00
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VPS33B Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1090.00
Del/Dup via aCGH
$990.00
Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) / Osler-Weber-Rendu Disease via the ENG Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$990.00
Del/Dup via aCGH
$990.00
Hereditary Hemorrhagic Telangiectasia Type 2 (HHT2) via the ACVRL1/ALK1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$770.00
Del/Dup via aCGH
$990.00
Xeroderma Pigmentosum via the ERCC3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$970.00
Del/Dup via aCGH
$990.00
Gray Platelet Syndrome via the NBEAL2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2160.00
Del/Dup via aCGH
$990.00
Xeroderma Pigmentosum via DDB2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Xeroderma Pigmentosum via the ERCC4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$840.00
Del/Dup via aCGH
$990.00
Sick Sinus Syndrome and Brugada Syndrome via the HCN4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$960.00
Del/Dup via aCGH
$990.00
Isolated Nonsyndromic Congenital Heart Defects via ZFPM2 (FOG2) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$930.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the VCL Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1130.00
Del/Dup via aCGH
$990.00
Maple Syrup Urine Disease Type IA via BCKDHA Gene Sequencing with CNV Detection
Sanger Sequencing
$710
Sequencing and Del/Dup
$640.00
Rothmund Thomson Syndrome via the RECQL4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1280.00
Del/Dup via aCGH
$990.00
Telethoninopathy via the TCAP Gene
Sanger Sequencing
$440.00
Del/Dup via aCGH
$990.00
Caveolinopathy via CAV3 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$440
Severe Congenital Neutropenia and Cyclic Neutropenia via ELANE Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$560.00
Holoprosencephaly-11 via The CDON Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1270.00
Del/Dup via aCGH
$990.00
Legius Syndrome via SPRED1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Isolated Nonsyndromic Congenital Heart Defects via GATA4 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$650
Junctional Epidermolysis Bullosa via COL17A1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$2110.00
Ventricular Septal Defects, Tetralogy of Fallot via FOXH1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$480
Glycogen Storage Disease Type Ia via G6PC Gene Sequencing with CNV Detection
Sanger Sequencing
$590
Sequencing and Del/Dup
$640.00
Compton-North Congenital Myopathy via the CNTN1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1280.00
Del/Dup via aCGH
$990.00
Centronuclear Myopathy-2, Autosomal Recessive via the BIN1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1160.00
Del/Dup via aCGH
$990.00
Classic lissencephaly via the PAFAH1B1/LIS1 Gene
Sanger Sequencing
$710.00
Del/Dup via aCGH
$990.00
Hirschsprung Disease (HSCR) via the RET Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1160.00
Del/Dup via aCGH
$990.00
Lissencephaly 3 via the TUBA1A Gene
Sanger Sequencing
$490.00
Del/Dup via aCGH
$990.00
Miller-Dieker Lissencephaly Syndrome via YWHAE Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Multiple Endocrine Neoplasia Type 2A (MEN2A) and Familial Medullary Thyroid Carcinoma (FMTC) via the RET Gene - Tier 1
Sanger Sequencing
$590.00
Del/Dup via aCGH
$990.00
Multiple Endocrine Neoplasia Type 2A (MEN2A) and Familial Medullary Thyroid Carcinoma (FMTC) via the RET Gene - Tier 2
Sanger Sequencing
$960.00
Del/Dup via aCGH
$990.00
Multiple Endocrine Neoplasia Type 2B (MEN2B) via the RET Gene, Exons 15-16
Sanger Sequencing
$370.00
Del/Dup via aCGH
$990.00
Pulmonary Arterial Hypertension (PAH) via BMPR2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1130.00
TRPV4-related Disorders via the TRPV4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$890.00
Del/Dup via aCGH
$990.00
3-M Syndrome via the CUL7 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1320.00
Del/Dup via aCGH
$990.00
Aarskog-Scott Syndrome via FGD1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$940
Achondroplasia via the FGFR3 Gene, Exon 10
Sanger Sequencing
$250.00
Del/Dup via aCGH
$990.00
Camurati-Engelmann Disease (CED) via TGFB1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$690.00
Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1) via ARSE Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$790
Combined Pituitary Hormone Deficiency-4 (CPHD-4) via LHX4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
COMP-Related Disorders via the COMP Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1050.00
Del/Dup via aCGH
$990.00
Conradi-Hunermann syndrome via EBP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$560.00
Duane-Radial Ray Syndrome and Acro-Renal-Ocular Syndrome via SALL4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$730.00
Hypochondroplasia via the FGFR3 Gene
Sanger Sequencing
$560.00
Del/Dup via aCGH
$990.00
IRF6-Related Disorders via IRF6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$670.00
Juvenile Paget Disease via TNFRSF11B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$560.00
Klippel-Feil Syndrome via GDF6 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Laron Syndrome/Pituitary Dwarfism II (Growth Hormone Insensitivity) via GHR Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$840
Meier-Gorlin Syndrome via the CDC6 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$910.00
Del/Dup via aCGH
$990.00
Meier-Gorlin Syndrome via the CDT1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Meier-Gorlin Syndrome via the ORC1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$990.00
Del/Dup via aCGH
$990.00
Meier-Gorlin Syndrome via ORC4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Meier-Gorlin Syndrome via ORC6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Metaphyseal Chondrodysplasia, Schmid Type (MCDS) via COL10A1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Multiple Epiphyseal Dysplasia via the MATN3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$770.00
Del/Dup via aCGH
$990.00
Paget Disease of Bone, Autosomal Recessive Osteopetrosis, and Familial Expansile Osteolysis via the TNFRSF11A Gene
Sanger Sequencing
$790.00
Del/Dup via aCGH
$990.00
Roberts Syndrome via the ESCO2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$830.00
Del/Dup via aCGH
$990.00
Schimke Immunoosseous Dysplasia via the SMARCAL1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1120.00
Del/Dup via aCGH
$990.00
Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX Gene
Sanger Sequencing
$520.00
Del/Dup via aCGH
$990.00
Short Stature with or without Partial Isolated Growth Hormone Deficiency via GHSR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Small Patella Syndrome via TBX4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Hand Type (SMED-SL) via DDR2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$930.00
Spondylocostal Dysostosis via the LFNG Gene
Sanger Sequencing
$670.00
Del/Dup via aCGH
$990.00
Spondylocostal Dysostosis via DLL3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Thanatophoric Dysplasia (TD) via the FGFR3 Gene
Sanger Sequencing
$520.00
Del/Dup via aCGH
$990.00
Townes-Brocks Syndrome via SALL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$890.00
TP63-Related Disorders via TP63 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Tricho-Rhino-Phalangeal Syndrome Types I & III via TRPS1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$860.00
X-Linked Spondyloepiphyseal Dysplasia Tarda (SEDT) via TRAPPC2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$520.00
Nephronophthisis and Senior-Loken Syndrome via the IQCB1/NPHP5 Gene
Sanger Sequencing
$790.00
Del/Dup via aCGH
$990.00
Cleidocranial Dysplasia (CCD) via RUNX2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$860.00
Fanconi Anemia via the SLX4/FANCP Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1120.00
Del/Dup via aCGH
$990.00
Cranioectodermal Dysplasia 1 (CED1) via the IFT122 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1430.00
Del/Dup via aCGH
$990.00
Retinitis Pigmentosa via CNGA1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$750
Hermansky-Pudlak Syndrome Type 7 (HPS7) via the DTNBP1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Primary Ciliary Dyskinesia (PCD) via the RPGR Gene
Sanger Sequencing
$1090.00
Del/Dup via aCGH
$990.00
X-linked Retinitis Pigmentosa (XLRP) via the RPGR (includes ORF15) Gene
Sanger Sequencing
$1090.00
Del/Dup via aCGH
$990.00
Holt-Oram Syndrome (HOS) via TBX5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Primary Microcephaly, Autosomal Recessive, via ASPM Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$2170.00
Oculofaciocardiodental Syndrome and Lenz Microphthalmia Syndrome via the BCOR Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1250.00
Del/Dup via aCGH
$990.00
Primary Microcephaly, Autosomal Recessive, via the MCPH1 Gene
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Primary Microcephaly, Autosomal Recessive, via CDK5RAP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1750.00
CENPJ-Related Disorders via CENPJ Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1060.00
Primary Microcephaly, Autosomal Recessive, via STIL Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1130.00
Primary Microcephaly, Autosomal Recessive, via WDR62 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1430.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via ACTN2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1060.00
Hypertrophic Cardiomyopathy and Related Disorders via ACTC1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSC2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$910.00
Del/Dup via aCGH
$990.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSG2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$940.00
Del/Dup via aCGH
$990.00
FHL1-Myopathies via FHL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Nephrogenic Diabetes Insipidus (NDI) via AQP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Nephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via AVPR2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Walker-Warburg Syndrome via Glycosyltransferase-Like Domain-Containing Protein 2 (POMGNT2) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Naxos Disease and Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the JUP Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the PKP2 Gene
Sanger Sequencing
$840.00
Del/Dup via aCGH
$990.00
Primary Ciliary Dyskinesia via the DNAAF3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$870.00
Del/Dup via aCGH
$990.00
Heterotaxy and Conotruncal Heart Defects via GDF1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Heterotaxy via the LEFTY2 Gene
Sanger Sequencing
$490.00
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene
Sanger Sequencing
$490.00
Del/Dup via aCGH
$990.00
GLI3-Related Disorders via GLI3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1020.00
Xeroderma Pigmentosum via POLH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Xeroderma Pigmentosum via the ERCC5 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1060.00
Del/Dup via aCGH
$990.00
Centronuclear Myopathy-3, Autosomal Dominant via MYF6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via CSRP3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Familial Limb Girdle Myasthenic Syndrome With Tubular Aggregates via the DPAGT1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Ellis-van Creveld Syndrome via the EVC Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1190.00
Del/Dup via aCGH
$990.00
Ellis-van Creveld Syndrome via the EVC2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1490.00
Del/Dup via aCGH
$990.00
Cystathioninuria via CTH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Centronuclear Myopathy-4, Autosomal Dominant (CNM4) via the CCDC78 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Walker-Warburg Syndrome via RXYLT1/TMEM5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Glutathione Synthetase Deficiency via GSS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Inclusion Body Myopathy and Autosomal Recessive, Early Onset Myopathy via the MYH2 Gene
Sanger Sequencing
$1650.00
Del/Dup via aCGH
$990.00
Leber congenital amaurosis 14 (LCA14) or Early Onset Retinal Dystrophy (EORD) and Juvenile Retinitis pigmentosa via the LRAT Gene
Sanger Sequencing
$440.00
Del/Dup via aCGH
$990.00
Neurohypophyseal Diabetes Insipidus (NDI) via AVP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Epidermolysis Bullosa with Pyloric Atresia via the ITGB4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1690.00
Del/Dup via aCGH
$990.00
Epidermolysis Bullosa with Pyloric Atresia via ITGA6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1250.00
Epidermolysis Bullosa with Pyloric Atresia via the PLEC Gene
Sanger Sequencing
$2420.00
Del/Dup via aCGH
$990.00
Ectodermal Dysplasia/Skin Fragility Syndrome via PKP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Epidermolysis Bullosa Simplex (EBS) via KRT5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via ALOX12B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via NIPAL4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via CYP4F22 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Familial Dysautonomia via the ELP1/IKBKAP Gene - Targeted Variants Analysis
Sanger Sequencing
$440.00
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via BEST1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via ABCA12 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
2,670
Autosomal Recessive Congenital Ichthyosis (ARCI) via ALOXE3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Miller Syndrome via the DHODH Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via PNPLA1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Aniridia via PAX6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Dystroglycanopathy via the B3GALNT2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$910.00
Del/Dup via aCGH
$990.00
Treacher Collins Syndrome via the POLR1D Gene
Sanger Sequencing
$440.00
Agnathia-Otocephaly Complex via PRRX1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1340.00
Del/Dup via aCGH
$990.00
Familial Hypercholesterolemia via the LDLR Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1060.00
Del/Dup via aCGH
$990.00
Distal Hereditary Motor Neuropathy, Type 7A via the SLC5A7 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Gnathodiaphyseal Dysplasia via the ANO5 Gene
Sanger Sequencing
$1090.00
Del/Dup via aCGH
$990.00
Ornithine Transcarbamylase Deficiency via OTC Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing and Del/Dup
$640.00
Treacher Collins Syndrome via the POLR1C Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$710.00
Distal Arthrogryposis, Autosomal Recessive, Type 5D (DA5D) via the ECEL1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1020.00
Del/Dup via aCGH
$990.00
Leber Congenital Amaurosis 4 (LCA4) via AIPL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Tropomyosin 2-Related Disorders via TPM2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Cornelia de Lange Syndrome via the RAD21 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1090.00
Cornelia de Lange Syndrome via the HDAC8 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Autosomal Dominant Pseudohypoaldosteronism Type 1 via the NR3C2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$910.00
Del/Dup via aCGH
$990.00
Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1A Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$870.00
Del/Dup via aCGH
$990.00
Limb Girdle Muscular Dystrophy, Type 2L (LGMD2L) and Distal Miyoshi Myopathy (MMD3) via the ANO5 Gene
Sanger Sequencing
$1090.00
Del/Dup via aCGH
$990.00
Weaver Syndrome via EZH2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1090.00
Klippel-Feil Syndrome via MEOX1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Spondylocostal Dysostosis via the TBX6 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Epidermolysis Bullosa Simplex (EBS) via KRT14 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Achondrogenesis Type 1A via TRIP11 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1650.00
Joubert Syndrome via TMEM138 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Spondyloenchondrodysplasia with Immune Dysregulation via ACP5 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Catecholaminergic Polymorphic Ventricular Tachycardia via the CASQ2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$770.00
Del/Dup via aCGH
$990.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Hyperglycemia and Hypoglycemia via GCK Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
RLBP1-Related Disorders via RLBP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Chronic Pancreatitis via Chymotrypsin C (CTRC) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Autosomal Dominant Retinitis Pigmentosa 31 (RP31) via TOPORS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Joubert Syndrome via the TMEM237 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$970.00
Del/Dup via aCGH
$990.00
Familial Amyloidosis via TTR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Retinitis Pigmentosa 38 (RP38) via MERTK Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1220.00
Retinitis Pigmentosa 35 (RP35) and Cone-Rod Dystrophy 10 (CORD10) via the SEMA4A Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$940.00
Del/Dup via aCGH
$990.00
Meckel-Gruber syndrome via B9D1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Phelan-Mcdermid Syndrome, 22q13 Deletion Syndrome, or Autism Spectrum Disorder via the SHANK3 Gene
Sanger Sequencing
$1590.00
Del/Dup via aCGH
$990.00
Orotic Aciduria via UMPS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Autosomal Dominant Retinitis Pigmentosa 27 (RP27) and Autosomal Recessive Retinal Degeneration, Clumped Pigment Type via NRL Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Autosomal Dominant Retinitis Pigmentosa 17 (RP17) via CA4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Ovarian Dysgenesis via the FSHR Gene
Sanger Sequencing
$860.00
Del/Dup via aCGH
$990.00
Ovarian Dysgenesis via BMP15 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Male and Female Infertility via FSHB Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$370
Cockayne Syndrome via the ERCC8 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$840.00
Del/Dup via aCGH
$990.00
Ovarian Hyperstimulation Syndrome via the FSHR Gene
Sanger Sequencing
$860.00
Del/Dup via aCGH
$990.00
46,XX Disorder of Sex Development (DSD) via WNT4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
SRY-related Disorders of Sex Development via the SRY Gene
Sanger Sequencing
$440.00
Del/Dup via aCGH
$990.00
Nail-Patella Syndrome via LMX1B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
DHH-related Disorders of Sex Development via DHH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Lung Cancer Susceptibility via the EGFR Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1410.00
Del/Dup via aCGH
$990.00
Familial Amyloidosis via APOA1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Autosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via GUCA1A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Autosomal Dominant Retinitis Pigmentosa 48 (RP48) via GUCA1B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
NR5A1-Related Disorders via NR5A1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Waardenburg Syndrome Types I and III via PAX3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
WFS1-Related Disorders via WFS1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Waardenburg Syndrome Type IVB via the EDN3 Gene
Sanger Sequencing
$580.00
Del/Dup via aCGH
$990.00
Waardenburg Syndrome Types IIE and IVC via SOX10 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Parkinson's Disease, Juvenile via the PRKN/PARK2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$840.00
Del/Dup via aCGH
$990.00
Apparent Mineralocorticoid Excess via the HSD11B2 Gene
Sanger Sequencing
$680.00
Del/Dup via aCGH
$990.00
Nemaline Myopathy via the KLHL40 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Welander Distal Myopathy via the TIA1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$940.00
Walker-Warburg Syndrome via B3GNT1(B4GAT1) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Dystroglycanopathy via GMPPB Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Bietti Crystalline Corneoretinal Dystrophy via CYP4V2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Branchiootorenal Syndrome via SIX5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Branchiootorenal syndrome via the SIX1 Gene
Sanger Sequencing
$440.00
Del/Dup via aCGH
$990.00
Branchiootorenal syndrome via the EYA1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$870.00
Del/Dup via aCGH
$990.00
Wolfram Syndrome Type 2 via CISD2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$440.00
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency via the OXCT1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1160.00
Del/Dup via aCGH
$990.00
Autosomal Recessive Isolated Ectopia Lentis-2 via ADAMTSL4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1190.00
SOX2-Related Ocular Disorders via SOX2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Waardenburg Syndrome Type IID via SNAI2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency via the CYP21A2 Gene
Sanger Sequencing
$870
Waardenburg Syndrome Type IVA via the EDNRB Gene
Sanger Sequencing
$680.00
Del/Dup via aCGH
$990.00
Gracile Syndrome via the BCS1L Gene
Sanger Sequencing
$650.00
NDP-Related Vitreoretinopathies via the NDP Gene
Sanger Sequencing
$440.00
Del/Dup via aCGH
$990.00
Hirschsprung Disease 3 (HSCR3) via GDNF Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Hirschsprung Disease, Cardiac Defects and Autonomic Dysfunction via the ECE1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1160.00
Del/Dup via aCGH
$990.00
Hirschsprung Disease 4 (HSCR4) via the EDN3 Gene
Sanger Sequencing
$580.00
Del/Dup via aCGH
$990.00
Hirschsprung Disease 2 (HSCR2) via the EDNRB Gene
Sanger Sequencing
$680.00
Del/Dup via aCGH
$990.00
Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene
Sanger Sequencing
$680.00
Del/Dup via aCGH
$990.00
Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg/Jensen) Syndrome via the TIMM8A Gene
Sanger Sequencing
$490.00
Del/Dup via aCGH
$990.00
Goldberg-Shprintzen Megacolon Syndrome via KIAA1279 (KIF1BP) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Tubular Aggregate Myopathy via the STIM1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$840.00
Del/Dup via aCGH
$990.00
GM2-Gangliosidosis Variant AB via the GM2A Gene
Sanger Sequencing
$370.00
Del/Dup via aCGH
$990.00
Hypothyroidism [Congenital, Nongoitrous] and Hyperthyroidism [Familial Gestational & Nonautoimmune] via the TSHR Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1020.00
Del/Dup via aCGH
$990.00
Bjornstad Syndrome via the BCS1L Gene
Sanger Sequencing
$650.00
Pseudohypoaldosteronism Type II via the CUL3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1060.00
Del/Dup via aCGH
$990.00
Pseudohypoaldosteronism Type II via the KLHL3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$940.00
Del/Dup via aCGH
$990.00
Pseudohypoaldosteronism Type II via the WNK4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1160.00
Del/Dup via aCGH
$990.00
Pseudohypoaldosteronism Type II via the WNK1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1720.00
Del/Dup via aCGH
$990.00
Cherubism via SH3BP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Renal Hypomagnesemia 5 via CLDN19 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
FGFR1-Related Disorders via the FGFR1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$990.00
Del/Dup via aCGH
$990.00
FGFR2-Related Disorders via the FGFR2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1100.00
Del/Dup via aCGH
$990.00
Long QT Syndrome and Jervell and Lange-Nielsen syndrome via the KCNQ1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1020.00
Del/Dup via aCGH
$990.00
Familial Amyloidosis (Finnish Type) via GSN Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1020.00
Renal Coloboma Syndrome and Isolated Renal Hypoplasia via the PAX2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Primary Pigmented Nodular Adrenocortical Disease via PDE11A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1250.00
Renal Cysts and Diabetes Syndrome via HNF1B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Dubin-Johnson Syndrome via ABCC2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1500.00
Amelogenesis Imperfecta via WDR72 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1220.00
Spondylocostal Dysostosis via HES7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Long QT Syndrome via the KCNE2 Gene
Sanger Sequencing
$370.00
Del/Dup via aCGH
$990.00
Popliteal Pterygium Syndrome 2, Lethal Type via RIPK4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Amelogenesis Imperfecta via FAM83H Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Char Syndrome via the TFAP2B Gene
Sanger Sequencing
$710.00
Del/Dup via aCGH
$990.00
Focal Dermal Hypoplasia (FDH) via PORCN Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Severe Congenital Neutropenia (Dursun Syndrome) via G6PC3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Amelogenesis Imperfecta with Gingival Hyperplasia Syndrome and Amelogenesis Imperfecta with Renal Syndrome via the FAM20A Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$840.00
Del/Dup via aCGH
$990.00
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via DSTYK Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$1020
MFN2-Related Disorders via the MFN2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$910.00
Del/Dup via aCGH
$990.00
NR0B1-Related Disorders via NR0B1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via the XIAP/BIRC4 Gene
Sanger Sequencing
$650.00
Del/Dup via aCGH
$990.00
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via SH2D1A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Amelogenesis Imperfecta via MMP20 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Amelogenesis Imperfecta via KLK4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Cone-Rod Dystrophy (CRD11) via RAX2 (Qrx) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Familial Pityriasis Rubra Pilaris (PRP) via the CARD14 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1160.00
Del/Dup via aCGH
$990.00
FRMD7-Associated X-linked Congenital Nystagmus 1 (NYS1) via FRMD7 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$940
Amelogenesis Imperfecta via AMELX Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$440
Protein C Deficiency via PROC Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Chronic Hereditary Pancreatitis via CPA1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Seckel Syndrome, Primary Microcephaly and Familial Cutaneous Telangiectasia and Cancer Syndrome via ATR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$2450.00
Glanzmann's Thrombasthenia via the ITGB3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$970.00
Del/Dup via aCGH
$990.00
Oculocerebrorenal Syndrome of Lowe (Lowe syndrome) and Dent Disease - 2 via the OCRL Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1280.00
Del/Dup via aCGH
$990.00
Glanzmann's Thrombasthenia via the ITGA2B Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1220.00
Del/Dup via aCGH
$990.00
Brown-Vialetto-Van Laere Syndrome 2 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A2 Gene
Sanger Sequencing
$440.00
Del/Dup via aCGH
$990.00
Familial Exudative Vitreoretinopathy 5 (FEVR5) via TSPAN12 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Antithrombin Deficiency via SERPINC1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Familial Exudative Vitreoretinopathy 1 (FEVR1) via FZD4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Congenital Fibrinogen Deficiency via the FGB Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Del/Dup via aCGH
$990.00
Congenital Fibrinogen Deficiency via the FGG Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Amelogenesis Imperfecta via ENAM Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Amelogenesis Imperfecta via ODAPH (C4orf26) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Chronic Granulomatous Disease via the CYBB Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$870.00
Del/Dup via aCGH
$990.00
Wagner Syndrome via the VCAN Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1840.00
Del/Dup via aCGH
$990.00
Pelger-Huet Anomaly and Greenberg Skeletal Dysplasia via LBR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Infantile Myofibromatosis and Idiopathic Basal Ganglia Calcification via the PDGFRB Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1310.00
Hereditary Spherocytosis via the EPB42 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$870.00
Del/Dup via aCGH
$990.00
Pyruvate Kinase Deficiency with Hemolytic Anemia via PKLR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
X-linked Agammaglobulinemia via BTK Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$1100
Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES) via FOXL2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
X-linked Megalocornea 1 (MGC1) via CHRDL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Hypomyelination and Congenital Cataract (HCC) via the FAM126A Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Bartter Syndrome Type 1 via the SLC12A1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1400.00
Del/Dup via aCGH
$990.00
Bartter Syndrome Type 2 via KCNJ1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Rotor Syndrome via SLCO1B1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1100.00
Rotor Syndrome via SLCO1B3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
Hypoparathyroidism, Sensorineural Deafness and Renal Disease (HDR) via GATA3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Marinesco-Sjogren Syndrome via the SIL1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
PITX2- Related Disorders via PITX2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
FOXC1-Related Disorders via the FOXC1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$870.00
Del/Dup via aCGH
$990.00
X-Linked Hyper IgM Syndrome via CD40LG Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome via CXCR4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Peters Plus Syndrome via B3GALTL/B3GLCT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1060.00
Mucopolysaccharidosis Type IVA / Morquio Type A Disease via GALNS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Primary Familial and Congenital Polycythemia (PFCP) via EPOR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Amelogenesis Imperfecta via DLX3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Hypercalcemic and Hypocalcemic Disorders via the GNA11 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Parkinson's Disease, Early Onset via PARK7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
TGFBI-Associated Corneal Dystrophies via TGFBI Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1020.00
Autoimmune Lymphoproliferative Syndrome via FAS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Del/Dup via aCGH
$990.00
Congenital Fibrinogen Deficiency via FGA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX5 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$940.00
Del/Dup via aCGH
$990.00
Chronic Hereditary Pancreatitis via PRSS1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX13 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX14 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$710.00
Del/Dup via aCGH
$990.00
Keratoconus and Posterior Polymorphous Corneal Dystrophy via VSX1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via AGT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the ACE Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1400.00
Del/Dup via aCGH
$990.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the REN Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via AGTR1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Autosomal Dominant Stargardt disease (STGD3) via ELOVL4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Severe Combined Immunodeficiency/Omenn Syndrome via the IL7R Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Oguchi Disease and Retinitis Pigmentosa (RP47) via SAG Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX16 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Del/Dup via aCGH
$990.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX19 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Osteopetrosis via CLCN7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1250.00
Osteogenesis Imperfecta via SP7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Chronic Hereditary Pancreatitis via SPINK1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Ectodermal Dysplasia via EDARADD Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
X-linked Nance-Horan Syndrome and Congenital Cataract via the NHS Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1100.00
Del/Dup via aCGH
$990.00
Mucopolysaccharidosis Type VII / Sly Syndrome via the GUSB Gene
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Osteopetrosis via OSTM1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Hereditary Thrombocythemia via THPO Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Optic Atrophy 7 (OPA7) via TMEM126A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Hirschsprung Disease via the NRTN Gene
Sanger Sequencing
$490.00
Cone-Rod Dystrophy via KCNV2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Osteogenesis Imperfecta via the IFITM5 Gene
Sanger Sequencing
$440.00
Optic Atrophy and Hereditary Spastic Paraplegia via the SPG7 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$990.00
Del/Dup via aCGH
$990.00
Methylmalonic Aciduria and Homocystinuria, cblJ Type, via the ABCD4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1160.00
Erythropoietic Protoporphyria via FECH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Primary Ciliary Dyskinesia (PCD) via the DNAAF1 / LRRC50 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$840.00
Del/Dup via aCGH
$990.00
Primary Ciliary Dyskinesia (PCD) via the CCDC39 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1050.00
Del/Dup via aCGH
$990.00
Primary Ciliary Dyskinesia (PCD) via the CCDC40 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1080.00
Del/Dup via aCGH
$990.00
Osteogenesis Imperfecta via SERPINF1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1060.00
Del/Dup via aCGH
$990.00
OculoDentoDigital Dysplasia (ODDD) via GJA1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$250
Branchio-Oculo-Facial Syndrome (BOFS) via TFAP2A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via NR2F1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Protein S Deficiency via the PROS1 Gene
Sanger Sequencing
$910.00
Del/Dup via aCGH
$990.00
Common Variable Immune Deficiency/IgA Deficiency via TNFRSF13B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Acute Intermittent Porphyria via HMBS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Congenital Disorders of Glycosylation, Type IIj via COG4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1100.00
Osteogenesis Imperfecta via CRTAP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Osteogenesis Imperfecta via P3H1 / LEPRE1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Glucose Phosphate Isomerase Deficiency via GPI Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1060.00
Osteogenesis Imperfecta-Bruck Syndrome Type II via the PLOD2 Gene
Sanger Sequencing
$1190.00
Osteogenesis Imperfecta via FKBP10 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Osteogenesis Imperfecta via BMP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1130.00
Porphyria Cutanea Tarda Type II/Hepatoerythropoietic Porphyria via UROD Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Primary Immunodeficiency via the PIK3CD Gene
Sanger Sequencing
$1310.00
Perrault Syndrome Type 2 via HARS2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Primary Open Angle Glaucoma via the MYOC Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Hermansky-Pudlak Syndrome Type 9 (HPS9) via BLOC1S6/PLDN Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
MFRP-Related Oculopathy via the MFRP Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Del/Dup via aCGH
$990.00
Mucopolysaccharidosis Type IX via HYAL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Maturity Onset Diabetes of the Young (MODY) via the PDX1 Gene
Sanger Sequencing
$490.00
Del/Dup via aCGH
$990.00
Congenital Interstitial Lung Disease with Nephrotic Syndrome and Epidermolysis Bullosa (ILNEB) via the ITGA3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1280.00
Del/Dup via aCGH
$990.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ8B/ADCK4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Hyper IgD Syndrome/Mevalonate Aciduria via the MVK Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Early-Onset Ataxia with Oculomotor Apraxia Type 1 via the APTX Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Perrault Syndrome Type 4 via LARS2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1160.00
Deafness, X-Linked 2 (DFNX2) via POU3F4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Deafness, Autosomal Recessive 24 (DFNB24) via RDX Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
P450 Oxidoreductase Deficiency via POR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Refsum Disease via the PHYH Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$840.00
Del/Dup via aCGH
$990.00
Medullary Cystic Kidney Disease type 2 and Familial Juvenile Hyperuricemic Nephropathy type 1 via UMOD Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
GLUD1-Related Congenital Hyperinsulinism via GLUD1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$990
Andersen-Tawil Syndrome/Long QT Syndrome via the KCNJ2 Gene
Sanger Sequencing
$440.00
Del/Dup via aCGH
$990.00
Congenital Dyserythropoietic Anemia Type I via the C15orf41 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Del/Dup via aCGH
$990.00
Long QT Syndrome and Jervell and Lange-Nielsen Syndrome via the KCNE1 Gene
Sanger Sequencing
$440.00
Del/Dup via aCGH
$990.00
Parkinson's Disease, Early Onset via the PINK1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
McLeod Syndrome via XK Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Dystroglycanopathies via POMK Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Congenital Methemoglobinemia via CYB5R3 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$750
Primary Ciliary Dyskinesia (PCD) via the DNAAF2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Oculocutaneous Albinism Type 3 (OCAIII) via the TYRP1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Congenital Central Hypoventilation Syndrome (CCHS) via PHOX2A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Mosaic Variegated Aneuploidy Syndrome via CEP57 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
X-linked Sideroblastic Anemia via ALAS2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1020.00
Cowden and Cowden-like Syndromes via the PIK3CA Gene
Sanger Sequencing
$1100.00
Del/Dup via aCGH
$990.00
Schnyder Crystalline Corneal Dystrophy (SCCD) via UBIAD1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Gelatinous Drop-Like Corneal Dystrophy (GDLD) via TACSTD2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Familial Episodic Pain Type 2 Syndrome via the SCN10A Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1620.00
Hyper IgM Syndrome via AICDA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Hereditary Motor and Sensory Neuropathy IIB (HMSN2B) via RAB7A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Hereditary Sensory and Autonomic Neuropathy Type V (HSAN5) via the NGF Gene
Sanger Sequencing
$490.00
Familial Episodic Pain Type 3 (FEPS3) Syndrome, Hereditary Sensory and Autonomic Neuropathy Type VII (HSAN7), and other Pain-Related Disorders via the SCN11A Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1620.00
Chronic Granulomatous Disease via CYBA Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$650
Syndromic Microphthalmia via the OTX2 Gene
Sanger Sequencing
$490.00
Del/Dup via aCGH
$990.00
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) Syndrome via the CTDP1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1220.00
Del/Dup via aCGH
$990.00
Brugada Syndrome via the CACNB2 Gene
NextGen Sequencing
$680.00
Sanger Sequencing
$1020.00
Del/Dup via aCGH
$990.00
LIG4 Syndrome via LIG4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Long QT syndrome via the SNTA1 Gene
Sanger Sequencing
$710.00
Del/Dup via aCGH
$990.00
Fibrodysplasia Ossificans progressiva (FOP) via ACVR1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Dihydropteridine Reductase (DHPR) Deficiency via QDPR Gene Sequencing with CNV Detection
Sanger Sequencing
$680
Sequencing and Del/Dup
$640.00
Brugada Syndrome via the KCNE3 Gene
Sanger Sequencing
$250.00
Del/Dup via aCGH
$990.00
Primary Ciliary Dyskinesia (PCD) via CCDC103 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Chronic Granulomatous Disease via NCF2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Chronic Joint Pain and Dysfunction via MMP13 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome via FOXP3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Nephrotic Syndrome via EMP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Dent Disease via the CLCN5 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$840.00
Maturity Onset Diabetes of the Young (MODY) via the HNF1A Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$940.00
Del/Dup via aCGH
$990.00
Maturity Onset Diabetes of the Young (MODY) via the HNF4A Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$940.00
Del/Dup via aCGH
$990.00
Long QT Syndrome via KCNJ5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Epimerase Deficiency Galactosemia via GALE Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Iron-Refractory Iron Deficiency Anemia (IRIDA) via TMPRSS6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1280.00
Hereditary Angioedema via SERPING1 /C1NH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Acrofacial Dysostosis 1, Nagar Type via SF3B4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Congenital Abnormalities of Kidney and Urinary Tract (CAKUT) and VACTERL Association via TRAP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1100.00
Retinitis Pigmentosa via the RP1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1130.00
Del/Dup via aCGH
$990.00
FGFR3-Related Disorders via the FGFR3 Gene
Sanger Sequencing
$970.00
Del/Dup via aCGH
$990.00
Severe Congenital Neutropenia via the VPS45 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$970.00
Perrault Syndrome Type 3 and Deafness, Autosomal Recessive 8 (DFNB8) via CLPP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the GNRHR Gene
Sanger Sequencing
$490.00
Del/Dup via aCGH
$990.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the GNRH1 Gene
Sanger Sequencing
$440.00
Del/Dup via aCGH
$990.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the KISS1 Gene
Sanger Sequencing
$440.00
Del/Dup via aCGH
$990.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via KISS1R Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via TAC3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via TACR3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Microcephaly, Lymphedema, and Chorioretinal Dysplasia (MLCRD) / Chorioretinal Dysplasia, Microcephaly, and Mental Retardation (CDMMR) / Familial Exudative Vitreoretinopathy (FEVR) via the KIF11 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1380.00
Del/Dup via aCGH
$990.00
Saethre-Chotzen Syndrome Via the TWIST1 Gene
Sanger Sequencing
$440.00
Peripheral Neuropathies via the HINT1 Gene
Sanger Sequencing
$490.00
Del/Dup via aCGH
$990.00
Familial Hypocalciuric Hypercalcemia (FHH) via AP2S1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Severe Congenital Neutropenia and Neutrophilia via CSF3R Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Brugada Syndrome via SCN3B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Thrombocytopenia via CYCS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$370.00
Osteopetrosis via SNX10 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Osteopetrosis via the CA2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Del/Dup via aCGH
$990.00
Hyaline Fibromatosis Syndrome via ANTXR2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1060.00
X-Linked Complete Congenital Stationary Night Blindness (CSNB1) via NYX Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Hypophosphatemia, X-Linked, via the PHEX Gene
Sanger Sequencing
$1190.00
Oocyte Maturation Defect (OOMD) via ZP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Distal Renal Tubular Acidosis, Autosomal Recessive, via the ATP6V0A4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1250.00
Del/Dup via aCGH
$990.00
Tooth Agenesis via PAX9 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Brugada Syndrome via the GPD1L Gene
Sanger Sequencing
$710.00
Del/Dup via aCGH
$990.00
Dihydropyrimidinase deficiency via DPYS Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Craniosynostosis via the MSX2 Gene
Sanger Sequencing
$490.00
Del/Dup via aCGH
$990.00
Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy via EFEMP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Increased Pain Sensitivity via COMT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Congenital Myopathy (Native American Myopathy) via the STAC3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Osteogenesis Imperfecta via SERPINH1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Congenital Hypothyroidism (Thyroid Dysgenesis) via the PAX8 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$870.00
Del/Dup via aCGH
$990.00
GAPO Syndrome via ANTXR1 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
1,100
Isolated Foveal Hypoplasia Type 2 (FVH2) via SLC38A8 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$840.00
Gaucher Disease via the GBA Gene
Sanger Sequencing
$850.00
Congenital Hypothyroidism (Thyroid Dysgenesis) via NKX2-1/TTF1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via the NOG Gene
Sanger Sequencing
$440.00
Congenital Hypothyroidism (Thyroid Stimulating Hormone Deficiency) via the TSHB Gene
Sanger Sequencing
$440.00
Del/Dup via aCGH
$990.00
Congenital Hypothyroidism (Central Hypothyroidism and Testicular Enlargement) via the IGSF1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1130.00
Del/Dup via aCGH
$990.00
Primary Ciliary Dyskinesia (PCD) via the CCDC114 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$870.00
X-linked Lenz Microphthalmia Syndrome and Lethal Ogden Syndrome via NAA10 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Congenital Hypothyroidism (Thyroid Hormone Resistance) via the THRA Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Congenital Hypothyroidism and Neonatal Diabetes Mellitus via the GLIS3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1060.00
Del/Dup via aCGH
$990.00
Nephronophthisis and Situs Inversus via the ANKS6 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1020.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the SLC5A5/NIS Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1130.00
Del/Dup via aCGH
$990.00
Macular Corneal Dystrophy (MCD) via CHST6 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$370
Primary Ciliary Dyskinesia (PCD) via the LRRC6 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$910.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TPO Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1100.00
Del/Dup via aCGH
$990.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via IYD/DEHAL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via DUOXA2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Posterior Microphthalmia via PRSS56 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Long QT Syndrome via SCN4B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Renal Hypodysplasia (RHD) via the SIX2 Gene
Sanger Sequencing
$490.00
Del/Dup via aCGH
$990.00
Familial Isolated Hypoparathyroidism via the PTH Gene
Sanger Sequencing
$370.00
Del/Dup via aCGH
$990.00
Familial Isolated Hypoparathyroidism via the GCM2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Focal Segmental Glomerulosclerosis (FSGS) via the ANLN Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1380.00
Del/Dup via aCGH
$990.00
PMP22-Related Neuropathies via PMP22 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Thromboxane A2 Receptor Deficiency via TBXA2R Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
IL-12 Receptor B1 Deficiency via IL12RB1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1220.00
Cerebroretinal Microangiopathy with Calcifications and Cysts (Coats plus syndrome) via CTC1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1220.00
Retinitis Pigmentosa via the PRPH2 (RDS) Gene
Sanger Sequencing
$490.00
Del/Dup via aCGH
$990.00
Congenital Central Hypoventilation Syndrome (CCHS) via ASCL1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Fish-Eye Disease and Norum Disease via LCAT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Aceruloplasminemia via CP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1220.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Type 3A via TUBB3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Limb Girdle Muscular Dystrophy Type 2W (LGMD2W) via The LIMS2 Gene
Sanger Sequencing
$680.00
Del/Dup via aCGH
$990.00
Phosphoglycerate Kinase Deficiency via the PGK1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Del/Dup via aCGH
$990.00
Congenital Central Hypoventilation Syndrome (CCHS) via BMP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Urofacial Syndrome 2 via LRIG2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1100.00
Urofacial Syndrome 1 via HPSE2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
SECISBP2-Related Disorders via the SECISBP2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$990.00
Ectodermal Dysplasia via the KRT85 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Karyomegalic Tubulointerstitial Nephritis (KTN) via FAN1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1100.00
Globozoospermia via SPATA16 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Atypical Hemolytic-Uremic Syndrome and Nephrotic Syndrome via the DGKE Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$910.00
Del/Dup via aCGH
$990.00
Homocystinuria, cblG Type, via the MTR Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1650.00
Del/Dup via aCGH
$990.00
Surfactant Protein B Deficiency via the SFTPB Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Del/Dup via aCGH
$990.00
Homocystinuria, cblE Type, via the MTRR Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1060.00
Del/Dup via aCGH
$990.00
Charcot Marie Tooth Disease via COX6A1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
REEP1-Related Disorders via REEP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Surfactant Protein C Deficiency via SFTPC Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Maturity Onset Diabetes of the Young (MODY) via the PAX4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Maturity Onset Diabetes of Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via NEUROD1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Achromatopsia (ACHM) via the GNAT2 Gene
Sanger Sequencing
$650.00
Del/Dup via aCGH
$990.00
Van Maldergem Syndrome (Cerebro-Facio-Articular Syndrome) via DCHS1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1900.00
Methylmalonic Aciduria and/or Homocystinuria via CD320 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
MPZ-Related Neuropathies via MPZ Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Juvenile Hereditary Hemochromatosis via the HAMP Gene
Sanger Sequencing
$440.00
Congenital Erythropoietic Porphyria via the UROS Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Sengers Syndrome via AGK Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Maturity Onset Diabetes of the Young (MODY) via the BLK Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$870.00
Del/Dup via aCGH
$990.00
Maturity Onset Diabetes of Young (MODY) via KLF11 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Steroid-Resistant Nephrotic Syndrome (SRNS)/ Focal Segmental Glomerulosclerosis (FSGS) via the TRPC6 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$940.00
Del/Dup via aCGH
$990.00
Cornelia de Lange Syndrome and Wiedemann-Steiner Syndrome via the KMT2A Gene
NextGen Sequencing
$680.00
Sanger Sequencing
$2670.00
6-Pyruvoyltetrahydropterin Syntase (PTPS) Deficiency via PTS Gene Sequencing with CNV Detection
Sanger Sequencing
$650
Sequencing and Del/Dup
$640.00
Sepiapterin Reductase (SR) Deficiency via SPR Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Homocystinuria via CBS Gene Sequencing with CNV Detection
Sanger Sequencing
$1100
Sequencing and Del/Dup
$640.00
Methylmalonic Aciduria and Homocystinuria, cblD Type, via MMADHC Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Craniosynostosis and Dental Anomalies, Autosomal Recessive Crouzon-like Craniosynostosis via IL11RA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Tyrosinemia, Type II via TAT Gene Sequencing with CNV Detection
Sanger Sequencing
$780
Sequencing and Del/Dup
$640.00
Pyruvate Dehydrogenase E1α Deficiency via PDHA1 Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing and Del/Dup
$640.00
Pyruvate Dehydrogenase E2 Deficiency via DLAT Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$990
Pyruvate Dehydrogenase Phosphatase Deficiency via PDP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Pyruvate Dehydrogenase E3-Binding Protein (E3BP) Deficiency via PDHX Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$990.00
Cytosolic Phosphoenolpyruvate Carboxykinase 1 Deficiency via the PCK1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$840.00
Del/Dup via aCGH
$990.00
Mitochondrial Phosphoenolpyruvate Carboxykinase 2 Deficiency via PCK2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
Pyruvate Carboxylase Deficiency via the PC Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1160.00
Del/Dup via aCGH
$990.00
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency via LIAS Gene Sequencing with CNV Detection
Sanger Sequencing
$840
Sequencing and Del/Dup
$640.00
TSFM-Related Combined Oxidative Phosphorylation Deficiency via TSFM Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
MRPL3-Related Combined Oxidative Phosphorylation Deficiency via MRPL3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Ectodermal Dysplasia via WNT10A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Osteopetrosis via TNFSF11 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Focal Segmental Glomerulosclerosis (FSGS) via the ACTN4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1130.00
Del/Dup via aCGH
$990.00
HESX1-Related Disorders via HESX1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Isolated Polycystic Liver Disease (PCLD) via the PRKCSH Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$970.00
Del/Dup via aCGH
$990.00
Cataract Type 11 via PITX3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Atrial Fibrillation via GJA5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Hereditary Hemochromatosis via the SLC40A1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$870.00
Del/Dup via aCGH
$990.00
Renal Hypouricemia Type 2 via SLC2A9 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$940.00
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-Related Disorders via TWNK/C10orf2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via SLC16A2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Autosomal Dominant Progressive External Ophthalmoplegia via the POLG2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$710.00
Del/Dup via aCGH
$990.00
Thiamine Responsive Megaloblastic Anemia via SLC19A2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Hereditary Coproporphyria via the CPOX Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Congenital Cataracts via the BFSP1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
DGUOK-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via DGUOK Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Deafness, Autosomal Recessive 29 (DFNB29) via CLDN14 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$490
Chudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via the GPSM2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1020.00
Congenital Cataracts and Ayme-Gripp Syndrome via the MAF Gene
Sanger Sequencing
$650.00
Usher Syndrome Type IJ and Deafness, Autosomal Recessive 48 (DFNB48) via CIB2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Usher Syndrome Type 2C and Deafness, Autosomal Recessive 57 (DFNB57) via the PDZD7 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1060.00
Del/Dup via aCGH
$990.00
Triosephosphate Isomerase Deficiency via TPI1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
OFD1-Related Disorders via the OFD1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1160.00
Del/Dup via aCGH
$990.00
Primordial Dwarfism via POC1A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
3-M Syndrome via CCDC8 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Deafness, Autosomal Recessive 6 (DFNB6) via TMIE Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Deafness, Autosomal Recessive 67 (DFNB67) via the LHFPL5 Gene
Sanger Sequencing
$490.00
Del/Dup via aCGH
$990.00
Craniofrontonasal Syndrome via EFNB1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the RYR2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$3920.00
Del/Dup via aCGH
$990.00
MYH9-Related Disorders via the MYH9 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1750.00
Del/Dup via aCGH
$990.00
Hereditary Sensory Neuropathy, Type IE via the DNMT1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1960.00
Del/Dup via aCGH
$990.00
Facioscapulohumeral Muscular Dystrophy 2 via the SMCHD1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2170.00
Del/Dup via aCGH
$990.00
Autosomal Dominant Optic Atrophy (ADOA) or Optic Atrophy, Kjer-Type (OAK) and DOA Plus Syndrome (DOA+) via the OPA1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1750.00
Del/Dup via aCGH
$990.00
Treacher Collins Syndrome via the TCOF1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1310.00
Mandibulofacial Dysostosis, Guion-Almeida Type via the EFTUD2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1340.00
Mosaic Variegated Aneuploidy Syndrome via the BUB1B Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1560.00
Del/Dup via aCGH
$990.00
Limb Girdle Muscular Dystrophy Type 2S (LGMD2S) via the TRAPPC11 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1490.00
Del/Dup via aCGH
$990.00
Primary Congenital Glaucoma via the LTBP2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1720.00
Del/Dup via aCGH
$990.00
Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1310.00
Del/Dup via aCGH
$990.00
RPGRIP1-Related Retinal Disorders via the RPGRIP1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1400.00
Del/Dup via aCGH
$990.00
Anti-Plasmin Deficiency via SERPINF2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Cone-Rod Dystrophy via CABP4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Cone-Rod Dystrophy via the CDHR1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1100.00
Del/Dup via aCGH
$990.00
Hereditary Spherocytosis Type 1 via the ANK1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1960.00
Del/Dup via aCGH
$990.00
Combined Factor V and Factor VIII Deficiency via the LMAN1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$990.00
Del/Dup via aCGH
$990.00
Familial Platelet Function Disorder via GP6 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Cone-Rod Dystrophy (CORDX3) via the CACNA1F Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2050.00
Del/Dup via aCGH
$990.00
Combined Factor V and Factor VIII Deficiency via MCFD2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Congenital Factor XIII Deficiency via F13B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
Congenital Factor XIII deficiency via the F13A1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$970.00
Del/Dup via aCGH
$990.00
Hereditary Spherocytosis/Elliptocytosis via the SPTB Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1720.00
Del/Dup via aCGH
$990.00
Hereditary Spherocytosis via the SLC4A1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1190.00
Del/Dup via aCGH
$990.00
Hereditary Spherocytosis/Elliptocytosis via the SPTA1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2550.00
Del/Dup via aCGH
$990.00
Factor VII Deficiency via F7 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Autosomal Dominant Hyper IgE Syndrome via the STAT3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1310.00
Del/Dup via aCGH
$990.00
Fundus Albipunctatus With or Without Cone Dystrophy via RDH5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Autosomal Dominant Cone-Rod Dystrophy via the RIMS1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1870.00
Del/Dup via aCGH
$990.00
Aminoacylase-1 Deficiency via the ACY1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Del/Dup via aCGH
$990.00
Periventricular Heterotopia with Microcephaly via the ARFGEF2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2020.00
Del/Dup via aCGH
$990.00
Cone-Rod Dystrophy via UNC119 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Congenital Stationary Night Blindness and Retinal Degeneration via the SLC24A1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$990.00
Del/Dup via aCGH
$990.00
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFS1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1190.00
Del/Dup via aCGH
$990.00
Infantile Cerebellar-Retinal Degeneration the ACO2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1060.00
Del/Dup via aCGH
$990.00
Familial Cold Autoinflammatory Syndrome 2 via the NLRP12 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1020.00
Del/Dup via aCGH
$990.00
Majeed Syndrome via the LPIN2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1220.00
Del/Dup via aCGH
$990.00
Congenital Dyserythropoietic Anemia Type II via the SEC23B Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1310.00
Del/Dup via aCGH
$990.00
Congenital Dyserythropoietic Anemia Type I via the CDAN1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1530.00
Del/Dup via aCGH
$990.00
Ocular Albinism (OA1) via the GPR143 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Oculocutaneous Albinism Type 4 (OCAIV) via the SLC45A2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Oculocutaneous Albinism Type 6 (OCAVI) via SLC24A5 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Oculocutaneous Albinism Type 7 (OCAVII) via LRMDA (C10orf11) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Craniosynostosis via the TCF12 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1280.00
Floating-Harbor Syndrome via the SRCAP Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2080.00
Del/Dup via aCGH
$990.00
Deafness, X-linked 6 (DFNX6) via the COL4A6 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1940.00
Del/Dup via aCGH
$990.00
Congenital Bile Acid Synthesis Defect-5 via the ABCD3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1590.00
Nemaline Myopathy 9 via the KLHL41 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$750.00
Del/Dup via aCGH
$990.00
Congenital Hypothyroidism (Thyrotropin-Releasing Hormone Deficiency) via TRH Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Netherton Syndrome via the SPINK5 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1720.00
Del/Dup via aCGH
$990.00
NOTCH2-Related Disorders via the NOTCH2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1500.00
Del/Dup via aCGH
$990.00
Autosomal Recessive Hyper IgE Syndrome via the DOCK8 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2450.00
Del/Dup via aCGH
$990.00
ADP Receptor Deficiency via the P2RY12 Gene
Sanger Sequencing
$440.00
Del/Dup via aCGH
$990.00
Neuronal Ceroid Lipofuscinosis 12 via the ATP13A2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1500.00
Adams-Oliver Syndrome via the DOCK6 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2110.00
Dilated Cardiomyopathy via LAMA4 Gene Sequencing with CNV Detection
Exome with CNV
$930.00
Sanger Sequencing
$1750.00
Deafness, Autosomal Recessive 9 (DFNB9) via the OTOF Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2170.00
Del/Dup via aCGH
$990.00
Neuronal Ceroid Lipofuscinosis 13 via CTSF Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Limb Girdle Muscular Dystrophy Type 1F via the TNPO3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1190.00
Del/Dup via aCGH
$990.00
Primary Ciliary Dyskinesia (PCD) via DNAAF5 (HEATR2) Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$970
Deafness, Autosomal Recessive 3 (DFNB3) via the MYO15A Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$3070.00
Del/Dup via aCGH
$990.00
Deafness, Autosomal Dominant 12 (DFNA12) and Deafness, Autosomal Recessive 21 (DFNB21) via the TECTA Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1560.00
Del/Dup via aCGH
$990.00
Deafness, Autosomal Dominant 36 (DFNA36) and Deafness, Autosomal Recessive 7 (DFNB7) via the TMC1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1280.00
Del/Dup via aCGH
$990.00
FBXL4-Related Mitochondrial DNA Depletion Syndrome via FBXL4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
UCP2-Related Congenital Hyperinsulinism via UCP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Deafness, Autosomal Recessive 8 (DFNB8) and Deafness, Autosomal Recessive 10 (DFNB10) via TMPRSS3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$870.00
MGME1-Related Mitochondrial DNA Depletion Syndrome via MGME1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
SUCLG2-Related Mitochondrial DNA Depletion Syndrome via the SUCLG2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Del/Dup via aCGH
$990.00
Deafness, Autosomal Dominant 22 (DFNA22) and Deafness, Autosomal Recessive 37 (DFNB37) via the MYO6 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1990.00
Del/Dup via aCGH
$990.00
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia via FGF3 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$590
Intrahepatic Cholestasis via the ABCB4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1620.00
Del/Dup via aCGH
$990.00
Intrahepatic Cholestasis via the ATP8B1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1470.00
Del/Dup via aCGH
$990.00
Pierson Syndrome and Congenital Nephrotic Syndrome via the LAMB2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1620.00
Del/Dup via aCGH
$990.00
Isolated Polycystic Liver Disease (PCLD) via the SEC63 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1340.00
Del/Dup via aCGH
$990.00
Steroid-Resistant Nephrotic Syndrome (SRNS) via the PLCE1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1720.00
Del/Dup via aCGH
$990.00
Congenital Bile Acid Synthesis Defect Type 2 via the AKR1D1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$840.00
Del/Dup via aCGH
$990.00
Deafness, Autosomal Recessive 35 (DFNB35) via the ESRRB Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Del/Dup via aCGH
$990.00
Deafness, Autosomal Recessive 42 (DFNB42) via the ILDR1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Del/Dup via aCGH
$990.00
Deafness, Autosomal Recessive 49 (DFNB49) via MARVELD2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Deafness, Autosomal Dominant 4A (DFNA4A) via the MYH14 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2020.00
Del/Dup via aCGH
$990.00
Deafness, Autosomal Recessive 15 (DFNB15) via GIPC3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Deafness, Autosomal Recessive 30 (DFNB30) via the MYO3A Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1750.00
Del/Dup via aCGH
$990.00
Deafness, Autosomal Dominant 15 (DFNA15) via POU4F3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Deafness, Autosomal Dominant 44 (DFNA44) via the CCDC50 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$970.00
Del/Dup via aCGH
$990.00
Hypertrophic Cardiomyopathy via MYBPC3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1380.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the MYH6 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1560.00
Del/Dup via aCGH
$990.00
Glycogen Storage Disease Type III via AGL Gene Sequencing with CNV Detection
Sanger Sequencing
$1590
Sequencing and Del/Dup
$640.00
Glycogen Storage Disease Type IX via the PHKB Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1540.00
Del/Dup via aCGH
$990.00
Joubert Syndrome via the AHI1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1340.00
Del/Dup via aCGH
$990.00
Joubert and Meckel-Gruber Syndromes via the RPGRIP1L Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1390.00
Del/Dup via aCGH
$990.00
Joubert and Meckel-Gruber Syndromes via the CC2D2A Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1650.00
Del/Dup via aCGH
$990.00
Usher Syndrome Type 2 via the ADGRV1 (GPR98) Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$4070.00
Del/Dup via aCGH
$990.00
MYH3-Related Distal Arthrogryposis via the MYH3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1990.00
Del/Dup via aCGH
$990.00
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2580.00
Del/Dup via aCGH
$990.00
Myofibrillar Myopathy via the FLNC Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2370.00
Del/Dup via aCGH
$990.00
Dynactin-Related Disorders via the DCTN1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1650.00
Del/Dup via aCGH
$990.00
Familial Limb Girdle Myasthenic Syndrome via the AGRN Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1750.00
Del/Dup via aCGH
$990.00
Type VI Collagenopathy via the COL6A1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1440.00
Del/Dup via aCGH
$990.00
Type VI Collagenopathy via the COL6A3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2110.00
Del/Dup via aCGH
$990.00
Type IV Voltage-Gated Sodium Channel (Alpha Subunit)-Related Disorders via the SCN4A Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1340.00
Del/Dup via aCGH
$990.00
Glycogen Storage Disease Type IX via the PHKA2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1540.00
Del/Dup via aCGH
$990.00
Cantu Syndrome via the ABCC9 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1590.00
Del/Dup via aCGH
$990.00
Familial Hemophagocytic Lymphohistiocytosis-Type 3 (FHL3) via the UNC13D Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1540.00
Del/Dup via aCGH
$990.00
Glycogen Storage Disease Type IX via the PHKA1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1650.00
Del/Dup via aCGH
$990.00
Cockayne Syndrome via the ERCC6 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1310.00
Del/Dup via aCGH
$990.00
Werner Syndrome via the WRN Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1960.00
Del/Dup via aCGH
$990.00
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via the COL9A1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1830.00
Del/Dup via aCGH
$990.00
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive, via the COL9A2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1290.00
Del/Dup via aCGH
$990.00
Multiple Epiphyseal Dysplasia via the COL9A3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1460.00
Del/Dup via aCGH
$990.00
Stickler Syndrome Type II, Marshall Syndrome, and Fibrochondrogenesis via the COL11A1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2490.00
Del/Dup via aCGH
$990.00
Stickler Syndrome Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via the COL11A2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2040.00
Del/Dup via aCGH
$990.00
Spinocerebellar Ataxia, Autosomal Recessive-8 via the SYNE1 Gene Exons 2-146
NextGen Sequencing
$640.00
Sanger Sequencing
$6200.00
Del/Dup via aCGH
$990.00
Cornelia de Lange Syndrome via the NIPBL Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2270.00
Del/Dup via aCGH
$990.00
Cornelia de Lange Syndrome via the SMC3 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1530.00
Del/Dup via aCGH
$990.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP-Related Disorders via the DSP Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1690.00
Del/Dup via aCGH
$990.00
Alport Syndrome (AS) via the COL4A4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2110.00
Del/Dup via aCGH
$990.00
Joubert Syndrome via the CPLANE1 (C5orf42) Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2480.00
Del/Dup via aCGH
$990.00
Charcot Marie Tooth Type 4J via the FIG4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1320.00
Del/Dup via aCGH
$990.00
Stargardt disease (STGD), Fundus Flavimaculatus (FFM) or Retinal Dystrophy, Early-Onset Severe via the ABCA4 Gene
NextGen Sequencing
$890.00
Sanger Sequencing
$1950.00
Del/Dup via aCGH
$990.00
'Bull's Eye' Macular Dystrophy (BEM), Cone-Rod Dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1310.00
Del/Dup via aCGH
$990.00
Cone-Rod Dystrophy via CNNM4 Gene Sequencing with CNV Detection
Exome with CNV
$890
Sanger Sequencing
$780
Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via the KIF7 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1310.00
Del/Dup via aCGH
$990.00
RYR1-Related Congenital Myopathies via the RYR1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$3920.00
Del/Dup via aCGH
$990.00
von Willebrand Disease Types 1, 2, and 3 via the VWF Gene
NextGen Sequencing
$850.00
Sanger Sequencing
$2610.00
Del/Dup via aCGH
$990.00
Timothy Syndrome and Brugada Syndrome via the CACNA1C Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2110.00
Del/Dup via aCGH
$990.00
Long QT Syndrome via the ANK2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2250.00
Del/Dup via aCGH
$990.00
Primary Ciliary Dyskinesia (PCD) via the DNAH11 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$3190.00
Del/Dup via aCGH
$990.00
Long QT Syndrome via the AKAP9 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2950.00
Del/Dup via aCGH
$990.00
Deafness, Autosomal Dominant 10 (DFNA10) via the EYA4 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1100.00
Del/Dup via aCGH
$990.00
Hypertrophic Cardiomyopathy and other MYH7-Related Disorders via the MYH7 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1590.00
Del/Dup via aCGH
$990.00
Charcot-Marie-Tooth disease, axonal, type 20, Spinal muscular atrophy with lower extremity predominance and Mental retardation, autosomal dominant type 13 via the DYNC1H1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$3660.00
Familial Hypercholesterolemia via the PCSK9 Gene
Sanger Sequencing
$940.00
Del/Dup via aCGH
$990.00
Renal Hypomagnesemia 3 via CLDN16 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TG Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$2520.00
Del/Dup via aCGH
$990.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOX2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1500.00
Del/Dup via aCGH
$990.00
Slow Acetylation, Drug-Induced Hepatotoxicity, and Other Adverse Drug Reactions via the NAT2 Gene
Sanger Sequencing
$440.00
Thiopurine S-Methyltransferase (TPMT) Deficiency via TPMT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$750.00
Deafness, Autosomal Recessive 39 (DFNB39) via the HGF Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1190.00
Del/Dup via aCGH
$990.00
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) via FAM111B Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$810.00
Frontonasal Dysplasia (Frontorhiny) via ALX3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Autosomal Recessive Transient Infantile Liver Failure (LFIT) via TRMU Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$780.00
Primary Ciliary Dyskinesia (PCD) via the DNAH8 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$3460.00
Primary Ciliary Dyskinesia (PCD) via CCNO Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Atrial Fibrillation Syndrome via the KCNA5 Gene
Sanger Sequencing
$250.00
Cataract 9, Multiple Types (CTRCT9) via CRYAA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Osteogenesis Imperfecta via WNT1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
SURF1-Related Leigh Syndrome (LS) via SURF1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Deafness, Autosomal Recessive 63 (DFNB63) via LRTOMT Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Van der Woude Syndrome (VWS) via GRHL3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$970.00
KLICK Syndrome via POMP Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Autosomal Recessive Mitochondrial Pyruvate Carrier Deficiency (MPYCD) via MPC1 (BRP44L) Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Cataract 23 (CTRCT23) via CRYBA4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Cataract 17, Multiple Types (CTRCT17) via CRYBB1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$580.00
Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome via CALM1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
NDUFA2-Related Leigh Syndrome (LS) via the NDUFA2 Gene
Sanger Sequencing
$490.00
TACO1-Related Leigh Syndrome (LS) via TACO1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$650.00
Cataract 3, Multiple Types (CTRCT3) via CRYBB2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Cataract 22, Multiple Types (CTRCT22) via CRYBB3 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Cataract Type 2 (CTRCT2) via CRYGC Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Primordial Dwarfism via the LARP7 Gene
Sanger Sequencing
$1060.00
Aicardi-Goutières Syndrome 7 and Singleton-Merton Syndrome 1 via the IFIH1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1190.00
Infantile Leukoencephalopathy Due to Mitochondrial Complex II Deficiency via the SDHAF1 Gene
Sanger Sequencing
$370.00
Deafness, Autosomal Dominant 51 (DFNA51) via the TJP2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1470.00
Del/Dup via aCGH
$990.00
Hypertension and Brachydactyly Syndrome via PDE3A Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1190.00
Focal Segmental Glomerulosclerosis (FSGS) via the CD2AP Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$1190.00
Del/Dup via aCGH
$990.00
Cystinuria via the SLC3A1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$780.00
Cystinuria via the SLC7A9 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$810.00
Left Ventricular Noncompaction (LVNC) via DTNA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1190.00
Spastic Paraplegia 4 via SPAST Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$1100.00
Deafness, Autosomal Dominant 4B (DFNA4B) via CEACAM16 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Spastic Paraplegia 3A via the ATL1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$970.00
Spastic Paraplegia 11 via SPG11 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$2300.00
Glutaric Acidemia Type II via ETFB Gene Sequencing with CNV Detection
Sanger Sequencing
$750
Sequencing and Del/Dup
$640.00
Methylmalonic Aciduria and Homocystinuria, cblF type, via the LMBRD1 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$990.00
Del/Dup via aCGH
$990.00
Deafness, Autosomal Dominant 40 (DFNA40) via CRYM Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
Deafness, Autosomal Dominant 20 (DFNA20) via ACTG1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Spastic Paraplegia 72 via REEP2 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Methlymalonyl-CoA Epimerase Deficiency via MCEE Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$540.00
Phenylalanine Hydroxylase Deficiency via PAH Gene Sequencing with CNV Detection
Sanger Sequencing
$810
Sequencing and Del/Dup
$640.00
Spastic Paraplegia 61 via ARL6IP1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Spastic Paraplegia 6 via NIPA1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$610.00
Glycogen Storage Disease Type X via the PGAM2 Gene
Sanger Sequencing
$490.00
Opitz G/BBB Syndrome Type 1 via the MID1 Gene
Sanger Sequencing
$870.00
Del/Dup via aCGH
$990.00
Variegate Porphyria via the PPOX Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$910.00
Del/Dup via aCGH
$990.00
Spinocerebellar Ataxia 21 via TMEM240 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$680.00
Primary Immunodeficiency via IRAK4 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$910.00
Atrial Fibrillation Syndrome via NPPA Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$490.00
Mitochondrial Complex I Deficiency via NDUFV1 Gene Sequencing with CNV Detection
Exome with CNV
$890.00
Sanger Sequencing
$710.00
TK2-Related Mitochondrial DNA Depletion Syndrome via the TK2 Gene
NextGen Sequencing
$640.00
Sanger Sequencing
$710.00