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METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
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Search Results

Test Descriptions Found: 208
Searched: all tests

# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Panel(s) Available Method Price
Achromatopsia (ACHM) Panel
Sequencing with CNV
PGxome
$890
Acute/Neurovisceral Porphyria Panel
Sequencing with CNV
PGxome
$890
Adams-Oliver Syndrome Panel
Sequencing with CNV
PGxome
$890
Agammaglobulinemia Panel
Sequencing with CNV
PGxome
$890
Agnathia-Otocephaly Complex Panel
Sequencing with CNV
PGxome
$890
Aicardi-Goutières Syndrome Panel
Sequencing with CNV
PGxome
$890
Alagille Syndrome Panel
Sequencing with CNV
PGxome
$890
Alpha Thalassemia Deletion/Duplication and Constant Spring Panel
MLPA
$540
Alpha Thalassemia Panel
Other
$1470
Alport Syndrome Panel
Sequencing with CNV
PGxome
$890
Alzheimer Disease, Familial, Panel
Sequencing with CNV
PG-Select
$640
Ambiguous Genitalia Panel
Sequencing with CNV
PGxome
$990
Amelogenesis Imperfecta Panel
Sequencing with CNV
PGxome
$890
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel
Sequencing with CNV
PGxome
$930
Amyotrophic Lateral Sclerosis (ALS) Panel
Sequencing with CNV
PGxome
$840
Anterior Segment Dysgenesis Disorders Panel
Sequencing with CNV
PGxome
$1670
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)/Dysplasia Panel
Sequencing with CNV
PGxome
$890
Ataxia with Oculomotor Apraxia Panel
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders (ASD) Panel
Sequencing with CNV
PGxome
$1280
Autoimmune Lymphoproliferative Syndrome/ALPS Panel
Sequencing with CNV
PGxome
$890
Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Panel
Sequencing with CNV
PGxome
$1290
Autosomal Dominant Polycystic Kidney Disease (ADPKD) Panel
Sequencing with CNV
PGxome
$1290
Autosomal Dominant Retinitis Pigmentosa (RP) Panel
Sequencing with CNV
PGxome
$890
Autosomal Recessive Polycystic Kidney Disease (ARPKD) Panel
Sequencing with CNV
PGxome
$890
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Panel
Sequencing with CNV
PGxome
$890
Autosomal Recessive Retinitis Pigmentosa (RP) Panel
Sequencing with CNV
PGxome
$1030
Axenfeld-Rieger Syndrome Panel
Sequencing with CNV
PGxome
$990
Single Gene Test(s) Available Method Price
Aarskog-Scott Syndrome via the FGD1 Gene
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Aceruloplasminemia via the CP Gene
Sanger Sequencing
$1220
Sequencing with CNV
PGxome
$890
Achondrogenesis Type 1A via the TRIP11 Gene
Sanger Sequencing
$1650
Sequencing with CNV
PGxome
$890
Achondroplasia via the FGFR3 Gene, Exon 10
Sanger Sequencing
$250
Achromatopsia (ACHM) via the ATF6 Gene
Sequencing with CNV
PGxome
$890
Achromatopsia (ACHM) via the CNGA3 Gene
Sequencing with CNV
PG-Select
$640
Achromatopsia (ACHM) via the GNAT2 Gene
Sanger Sequencing
$650
Sequencing with CNV
PGxome
$890
Achromatopsia 6 or Retinal Cone Dystrophy 3 via the PDE6H Gene
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Achromatopsia via the CNGB3 Gene
Sequencing with CNV
PG-Select
$640
Achromatopsia via the PDE6C Gene
Sanger Sequencing
$1160
Sequencing with CNV
PGxome
$890
Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via the KIF7 Gene
Sanger Sequencing
$1310
Sequencing with CNV
PGxome
$890
Acrofacial Dysostosis 1, Nagar Type via the SF3B4 Gene
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Acute Intermittent Porphyria via the HMBS Gene
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Acute Myeloid Leukemia (AML) via the CEBPA Gene
Sanger Sequencing
$580
Acyl-CoA Oxidase Deficiency via the ACOX1 Gene
Sequencing with CNV
PG-Select
$640
Adams-Oliver Syndrome via the DOCK6 Gene
Sanger Sequencing
$2110
Sequencing with CNV
PGxome
$890
Adenosine Deaminase Deficiency via the ADA Gene
Sequencing with CNV
PG-Select
$640
Adenylosuccinase Deficiency via the ADSL Gene
Sequencing with CNV
PG-Select
$640
ADP Receptor Deficiency via the P2RY12 Gene
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Agnathia-Otocephaly Complex via the PRRX1 Gene
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Aicardi-Goutières Syndrome 7 and Singleton-Merton Syndrome 1 via the IFIH1 Gene
Sanger Sequencing
$1190
Sequencing with CNV
PGxome
$890
Aicardi-Goutières Syndrome 2 via the RNASEH2B Gene
Sequencing with CNV
PG-Select
$640
Aicardi-Goutières Syndrome 3 via the RNASEH2C Gene
Sequencing with CNV
PG-Select
$640
Aicardi-Goutières Syndrome 4 via the RNASEH2A Gene
Sequencing with CNV
PG-Select
$640
Aicardi-Goutières Syndrome 5 via the SAMHD1 Gene
Sequencing with CNV
PG-Select
$640
Alagille Syndrome-1 via the JAG1 Gene
Sanger Sequencing
$1090
Sequencing with CNV
PGxome
$890
Alexander Disease via the GFAP Gene
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Alkaptonuria via the HGD Gene
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via the SLC16A2 Gene
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Alpha-1 Antitrypsin Deficiency via the SERPINA1 Gene
Sequencing with CNV
PG-Select
$640
Alpha-Mannosidosis via the MAN2B1 Gene
Sequencing with CNV
PG-Select
$640
Alpha-Thalassemia X-linked Intellectual Disability Syndrome via the ATRX Gene
Sequencing with CNV
PG-Select
$640
Alport Syndrome via the COL4A3 Gene
Sequencing with CNV
PG-Select
$640
Alport Syndrome via the COL4A4 Gene
Sanger Sequencing
$2110
Sequencing with CNV
PGxome
$890
Alport Syndrome via the COL4A5 Gene
Sequencing with CNV
PG-Select
$640
ALS2-Related Disorders via the ALS2 Gene
Sanger Sequencing
$1650
Sequencing with CNV
PGxome
$890
Alstrom Syndrome via the ALMS1 Gene
Sequencing with CNV
PG-Select
$640
Alzheimer Disease, Familial or Cerebral Amyloid Angiopathy via the APP Gene
Sequencing with CNV
PG-Select
$640
Alzheimer's Disease, Familial via the PSEN1 Gene
Sequencing with CNV
PG-Select
$640
Alzheimer's Disease, Familial via the PSEN2 Gene
Sequencing with CNV
PG-Select
$640
Amelogenesis Imperfecta via the AMELX Gene
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via the DLX3 Gene
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via the ENAM Gene
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via the FAM83H Gene
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via the KLK4 Gene
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via the MMP20 Gene
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via the ODAPH (C4orf26) Gene
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta via the WDR72 Gene
Sanger Sequencing
$1220
Sequencing with CNV
PGxome
$890
Amelogenesis Imperfecta with Gingival Hyperplasia Syndrome and Amelogenesis Imperfecta with Renal Syndrome via the FAM20A Gene
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Aminoacylase-1 Deficiency via the ACY1 Gene
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Amyotrophic Lateral Sclerosis (ALS) via the hnRNPA1 Gene
Sequencing with CNV
PG-Select
$640
Amyotrophic Lateral Sclerosis (ALS)/Motor Neuron Disease via the SOD1 Gene
Sequencing with CNV
PG-Select
$640
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the ANXA11 Gene
Sequencing with CNV
PG-Select
$640
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the FUS Gene
Sequencing with CNV
PG-Select
$640
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia via the CHMP2B Gene
Sequencing with CNV
PG-Select
$640
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia via the TBK1 Gene
Sequencing with CNV
PG-Select
$640
Amyotrophic Lateral Sclerosis via the ANG Gene
Sequencing with CNV
PG-Select
$640
Amyotrophic Lateral Sclerosis via the ARHGEF28 Gene
Sequencing with CNV
PG-Select
$640
Amyotrophic Lateral Sclerosis via the OPTN Gene
Sequencing with CNV
PG-Select
$640
Amyotrophic Lateral Sclerosis via the UBQLN2 Gene
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via the PFN1 Gene
Sequencing with CNV
PG-Select
$640
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via the TARDBP Gene
Sequencing with CNV
PG-Select
$640
Andermann Syndrome via the SLC12A6 Gene
Sequencing with CNV
PG-Select
$640
Andersen-Tawil Syndrome/Long QT Syndrome via the KCNJ2 Gene
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Androgen Insensitivity Syndrome (AIS) via the Androgen Receptor (AR) Gene
Sequencing with CNV
PG-Select
$640
Angelman Syndrome by MS-MLPA
Other
$540
Angelman Syndrome via the UBE3A Gene
Sequencing with CNV
PG-Select
$640
Aniridia via the PAX6 Gene
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Anterior Segment Dysgenesis via the CPAMD8 Gene
Sequencing with CNV
PGxome
$890
Anterior Segment Dysgenesis via the FOXE3 Gene
Sanger Sequencing
$580
Anti-Plasmin Deficiency via the SERPINF2 Gene
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Antithrombin Deficiency via the SERPINC1 Gene
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Aplastic Anemia and Myelodysplastic Syndrome via the SRP72 Gene
Sequencing with CNV
PG-Select
$640
Apparent Mineralocorticoid Excess via the HSD11B2 Gene
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Argininemia via the ARG1 Gene
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Argininosuccinate Lyase Deficiency via the ASL Gene
Sanger Sequencing
$970
Sequencing with CNV
PGxome
$890
Aromatic L-amino Acid Decarboxylase Deficiency via the DDC Gene
Sanger Sequencing
$870
Sequencing with CNV
PGxome
$890
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP-Related Disorders via the DSP Gene
Sanger Sequencing
$1690
Sequencing with CNV
PGxome
$890
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and Loeys-Dietz Syndrome via the TGFB3 Gene
Sequencing with CNV
PG-Select
$640
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSC2 Gene
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSG2 Gene
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the PKP2 Gene
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the TMEM43 Gene
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Arterial tortuosity syndrome (ATS) via the SLC2A10 Gene
Sequencing with CNV
PG-Select
$640
Arthrogryposis Multiplex Congenita 4 via the SCYL2 Gene
Sequencing with CNV
PGxome
$990
Arthrogryposis Multiplex Congenita via the ERGIC1 Gene
Sequencing with CNV
PGxome
$890
Arthrogryposis Multiplex Congenita via the UNC50 Gene
Sequencing with CNV
PGxome
$890
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VIPAS39 Gene
Sanger Sequencing
$1020
Sequencing with CNV
PGxome
$890
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VPS33B Gene
Sanger Sequencing
$1090
Sequencing with CNV
PGxome
$890
Aspartylglucosaminuria via the AGA Gene
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Ataxia Telangiectasia Syndrome via the ATM Gene
Sequencing with CNV
PG-Select
$540
Ataxia-Telangiectasia-Like Disorder via the MRE11/MRE11A Gene
Sequencing with CNV
PG-Select
$640
Atrial Fibrillation Syndrome via the KCNA5 Gene
Sanger Sequencing
$250
Sequencing with CNV
PGxome
$890
Atrial Fibrillation Syndrome via the KCNE5 Gene
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Atrial Fibrillation Syndrome via the MYL4 Gene
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Atrial Fibrillation Syndrome via the NPPA Gene
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Atrial Fibrillation via the GJA5 Gene
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Atrial Fibrillation via the SCN2B Gene
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Atypical Hemolytic-Uremic Syndrome and Nephrotic Syndrome via the DGKE Gene
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders (ASD) via the NLGN4X Gene
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders and CTNND2-Related Disorders via the CTNND2 Gene
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders via the CACNA2D3 Gene
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders via the CHD8 Gene
Sanger Sequencing
$2080
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders via the DSCAM Gene
Sanger Sequencing
$1800
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders via the FOXP1 Gene
Sanger Sequencing
$970
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders via the KATNAL2 Gene
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders via the KMT5B (SUV420H1) Gene
Sanger Sequencing
$970
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders via the TRIP12 Gene
Sanger Sequencing
$1990
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders/Intellectual Disability via the ASH1L Gene
Sanger Sequencing
$2170
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders/Intellectual Disability via the IRF2BPL Gene
Sanger Sequencing
$840
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders/Intellectual Disability via the MED13 Gene
Sequencing with CNV
PGxome
$890
Autism Spectrum Disorders/Intellectual Disability via the NAA15 Gene
Sequencing with CNV
PGxome
$890
Autoimmune Lymphoproliferative Syndrome via the FAS Gene
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Autoimmune Polyendocrinopathy Syndrome Type 1 via the AIRE Gene
Sequencing with CNV
PG-Select
$640
Autosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via the GUCA1A Gene
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Autosomal Dominant Cone-Rod Dystrophy via the RIMS1 Gene
Sanger Sequencing
$1870
Sequencing with CNV
PGxome
$890
Autosomal Dominant Congenital Cataracts via the MIP Gene
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Autosomal Dominant DOPA-Responsive Dystonia via the GCH1 Gene
Sequencing with CNV
PG-Select
$640
Autosomal Dominant Hyper IgE Syndrome via the STAT3 Gene
Sanger Sequencing
$1310
Sequencing with CNV
PGxome
$890
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E (LGMD1E) via the DNAJB6 Gene
Sanger Sequencing
$770
Sequencing with CNV
PGxome
$890
Autosomal Dominant Lower Extremity-Predominant Spinal Muscular Atrophy Type 2 via the BICD2 Gene
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the CHRNA4 Gene
Sequencing with CNV
PG-Select
$640
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the CHRNB2 Gene
Sequencing with CNV
PG-Select
$640
Autosomal Dominant Optic Atrophy (ADOA) or Optic Atrophy, Kjer-Type (OAK) and DOA Plus Syndrome (DOA+) via the OPA1 Gene
Sanger Sequencing
$1750
Sequencing with CNV
PGxome
$890
Autosomal Dominant Optic Atrophy with Cataract (ADOAC) and Costeff Syndrome or 3-Methylglutaconic Aciduria, Type III (MGA3) via the OPA3 Gene
Sequencing with CNV
PG-Select
$640
Autosomal Dominant Polycystic Kidney Disease (ADPKD) via the DNAJB11 Gene
Sequencing with CNV
PGxome
$890
Autosomal Dominant Polycystic Kidney Disease (ADPKD) via the GANAB Gene
Sequencing with CNV
PGxome
$890
Autosomal Dominant Polycystic Kidney Disease via MLPA of PKD1
MLPA
$540
Autosomal Dominant Polycystic Kidney Disease via the PKD1 Gene
Sanger Sequencing
$2490
Sequencing with CNV
PGxome
$1090
Autosomal Dominant Polycystic Kidney Disease via the PKD2 Gene
Sanger Sequencing
$1130
Sequencing with CNV
PGxome
$890
Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via the SLC25A4 Gene
Sanger Sequencing
$580
Sequencing with CNV
PGxome
$890
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-Related Disorders via the TWNK/C10orf2 Gene
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Autosomal Dominant Progressive External Ophthalmoplegia via the DNA2 Gene
Sanger Sequencing
$1340
Sequencing with CNV
PGxome
$890
Autosomal Dominant Progressive External Ophthalmoplegia via the POLG2 Gene
Sanger Sequencing
$710
Sequencing with CNV
PGxome
$890
Autosomal Dominant Pseudohypoaldosteronism Type 1 via the NR3C2 Gene
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Autosomal Dominant Retinitis Pigmentosa 17 (RP17) via the CA4 Gene
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Autosomal Dominant Retinitis Pigmentosa 27 (RP27) and Autosomal Recessive Retinal Degeneration, Clumped Pigment Type via the NRL Gene
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Autosomal Dominant Retinitis Pigmentosa 31 (RP31) via the TOPORS Gene
Sanger Sequencing
$810
Sequencing with CNV
PGxome
$890
Autosomal Dominant Retinitis Pigmentosa 48 (RP48) via the GUCA1B Gene
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Autosomal Dominant Retinitis Pigmentosa via the PRPF6 Gene
Sequencing with CNV
PGxome
$890
Autosomal Dominant Retinitis Pigmentosa via the SNRNP200 Gene
Sequencing with CNV
PGxome
$890
Autosomal Dominant Stargardt disease (STGD3) via the ELOVL4 Gene
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Autosomal Dominant Vitelliform Macular Dystrophy via the IMPG1 Gene
Sequencing with CNV
PGxome
$890
Autosomal Dominant, Non-Syndromic Holoprosencephaly via the GAS1 Gene
Sanger Sequencing
$440
Sequencing with CNV
PGxome
$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ABCA12 Gene
Sanger Sequencing
2,670
Sequencing with CNV
PGxome
$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ALOX12B Gene
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ALOXE3 Gene
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via the CYP4F22 Gene
Sanger Sequencing
$940
Sequencing with CNV
PGxome
$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via the NIPAL4 Gene
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via the PNPLA1 Gene
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via the TGM1 Gene
Sequencing with CNV
PG-Select
$640
Autosomal Recessive Cutis Laxa Type 3A (ARCL3A) via the ALDH18A1 Gene
Sequencing with CNV
PG-Select
$640
Autosomal Recessive Cutis Laxa Type IIA (ARCL2A) and Wrinkly Skin Syndrome (WSS) via the ATP6V0A2 Gene
Sequencing with CNV
PG-Select
$640
Autosomal Recessive DOPA-Responsive Dystonia via the TH Gene
Sequencing with CNV
PG-Select
$640
Autosomal Recessive Hyper IgE Syndrome via the DOCK8 Gene
Sanger Sequencing
$2450
Sequencing with CNV
PGxome
$890
Autosomal Recessive Isolated Ectopia Lentis-2 via the ADAMTSL4 Gene
Sanger Sequencing
$1190
Sequencing with CNV
PGxome
$890
Autosomal Recessive Mitochondrial Pyruvate Carrier Deficiency (MPYCD) via the MPC1 (BRP44L) Gene
Sanger Sequencing
$610
Sequencing with CNV
PGxome
$890
Autosomal Recessive Neurodevelopmental Disorder with Structural Brain Anomalies via the PTPN23 Gene
Sequencing with CNV
PGxome
$890
Autosomal Recessive Polycystic Kidney Disease (ARPKD) via the DZIP1L Gene
Sequencing with CNV
PGxome
$890
Autosomal Recessive Polycystic Kidney Disease (ARPKD) via the PKHD1 Gene
Sequencing with CNV
PG-Select
$640
Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1A Gene
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the ACE Gene
Sanger Sequencing
$1400
Sequencing with CNV
PGxome
$890
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the AGT Gene
Sanger Sequencing
$680
Sequencing with CNV
PGxome
$890
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the AGTR1 Gene
Sanger Sequencing
$540
Sequencing with CNV
PGxome
$890
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the REN Gene
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Autosomal Recessive Retinitis Pigmentosa (RP28) via the FAM161A Gene
Sequencing with CNV
PG-Select
$640
Autosomal Recessive Retinitis Pigmentosa 26 (RP26) via the CERKL Gene
Sequencing with CNV
PG-Select
$640
Autosomal Recessive Retinitis Pigmentosa 36 (RP36) via the PRCD Gene
Sanger Sequencing
$490
Sequencing with CNV
PGxome
$890
Autosomal Recessive Retinitis Pigmentosa 59 (RP59) via the DHDDS Gene
Sequencing with CNV
PG-Select
$640
Autosomal Recessive Retinitis Pigmentosa 66 (RP66) via the RBP3 Gene
Sanger Sequencing
$910
Sequencing with CNV
PGxome
$890
Autosomal Recessive Retinitis Pigmentosa 69 (RP69) via the IMPG2 Gene
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Autosomal Recessive Retinitis Pigmentosa 69 (RP69) via the KIZ Gene
Sequencing with CNV
PGxome
$890
Autosomal Recessive Retinitis Pigmentosa 77 (RP77) via the REEP6 Gene
Sequencing with CNV
PGxome
$890
Autosomal Recessive Retinitis Pigmentosa via the EYS Gene
Sequencing with CNV
PG-Select
$640
Autosomal Recessive Retinitis Pigmentosa via the FLVCR1 Gene
Sanger Sequencing
$990
Sequencing with CNV
PGxome
$890
Autosomal Recessive Retinitis Pigmentosa via the SLC7A14 Gene
Sanger Sequencing
$750
Sequencing with CNV
PGxome
$890
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) via the SACS Gene
Sequencing with CNV
PG-Select
$640
Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via the SETX Gene
Sequencing with CNV
PG-Select
$640
Autosomal Recessive Spinocerebellar Ataxia-10 via the ANO10 Gene
Sanger Sequencing
$860
Sequencing with CNV
PGxome
$890
Autosomal Recessive Transient Infantile Liver Failure (LFIT) via the TRMU Gene
Sanger Sequencing
$780
Sequencing with CNV
PGxome
$890
Autosomal-Recessive Intellectual Disability via the NRXN1 Gene
Sequencing with CNV
PG-Select
$640
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