| 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 |
|
| 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 |
|
| 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 |
|
| 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 |
|
| 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 |
|
| 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 Type 4 (SCAR4) via the VPS13D Gene |
Sequencing with CNV
PGxome |
$890 |
|
| 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 |
|
ORDER