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Tests and Panels

ADP Receptor Deficiency via the P2RY12 Gene

Test Code

Method

Price

2931

Sanger Sequencing

$440

4205

Sequencing with CNV PGxome

$890
ALS2-Related Disorders via the ALS2 Gene

Test Code

Method

Price

108

Sanger Sequencing

$1650

8005

Sequencing with CNV PGxome

$890
Aarskog-Scott Syndrome via the FGD1 Gene

Test Code

Method

Price

837

Sanger Sequencing

$940

9887

Sequencing with CNV PGxome

$890
Aceruloplasminemia via the CP Gene

Test Code

Method

Price

2033

Sanger Sequencing

$1220

8039

Sequencing with CNV PGxome

$890
Achondrogenesis Type 1A via the TRIP11 Gene

Test Code

Method

Price

8003

Sequencing with CNV PGxome

$890

1152

Sanger Sequencing

$1650
Achondroplasia via the FGFR3 Gene, Exon 10

Test Code

Method

Price

425

Sanger Sequencing

$250
Achromatopsia (ACHM) Panel

Test Code

Method

Price

10215

Sequencing with CNV PGxome

$890
Achromatopsia (ACHM) via the ATF6 Gene

Test Code

Method

Price

12627

Sequencing with CNV PGxome

$890
Achromatopsia (ACHM) via the CNGA3 Gene

Test Code

Method

Price

7607

Sequencing with CNV PG-Select

$640
Achromatopsia (ACHM) via the GNAT2 Gene

Test Code

Method

Price

9985

Sequencing with CNV PGxome

$890

693

Sanger Sequencing

$650
Achromatopsia 6 or Retinal Cone Dystrophy 3 via the PDE6H Gene

Test Code

Method

Price

2438

Sanger Sequencing

$490

7961

Sequencing with CNV PGxome

$890
Achromatopsia via the CNGB3 Gene

Test Code

Method

Price

6917

Sequencing with CNV PG-Select

$640
Achromatopsia via the PDE6C Gene

Test Code

Method

Price

11561

Sequencing with CNV PGxome

$890

694

Sanger Sequencing

$1160
Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via the KIF7 Gene

Test Code

Method

Price

1025

Sanger Sequencing

$1310

11031

Sequencing with CNV PGxome

$890
Acrofacial Dysostosis 1, Nagar Type via the SF3B4 Gene

Test Code

Method

Price

2104

Sanger Sequencing

$780

4233

Sequencing with CNV PGxome

$890
Acute Intermittent Porphyria via the HMBS Gene

Test Code

Method

Price

776

Sanger Sequencing

$870

8229

Sequencing with CNV PGxome

$890
Acute Myeloid Leukemia (AML) via the CEBPA Gene

Test Code

Method

Price

996

Sanger Sequencing

$580
Acute/Neurovisceral Porphyria Panel

Test Code

Method

Price

10145

Sequencing with CNV PGxome

$890
Acyl-CoA Oxidase Deficiency via the ACOX1 Gene

Test Code

Method

Price

4085

Sequencing with CNV PG-Select

$640
Adams-Oliver Syndrome Panel

Test Code

Method

Price

13027

Sequencing with CNV PGxome

$890
Adams-Oliver Syndrome via the DOCK6 Gene

Test Code

Method

Price

11255

Sequencing with CNV PGxome

$890

2292

Sanger Sequencing

$2110
Adenosine Deaminase Deficiency via the ADA Gene

Test Code

Method

Price

7563

Sequencing with CNV PG-Select

$640
Adenylosuccinase Deficiency via the ADSL Gene

Test Code

Method

Price

6919

Sequencing with CNV PG-Select

$640
Agammaglobulinemia Panel

Test Code

Method

Price

2691

Sequencing with CNV PGxome

$890
Agnathia-Otocephaly Complex Panel

Test Code

Method

Price

7955

Sequencing with CNV PGxome

$890
Agnathia-Otocephaly Complex via the PRRX1 Gene

Test Code

Method

Price

1298

Sanger Sequencing

$580

8827

Sequencing with CNV PGxome

$890
Aicardi-Goutières Syndrome 7 and Singleton-Merton Syndrome 1 via the IFIH1 Gene

Test Code

Method

Price

11383

Sequencing with CNV PGxome

$890

2918

Sanger Sequencing

$1190
Aicardi-Goutières Syndrome 2 via the RNASEH2B Gene

Test Code

Method

Price

3825

Sequencing with CNV PG-Select

$640
Aicardi-Goutières Syndrome 3 via the RNASEH2C Gene

Test Code

Method

Price

3827

Sequencing with CNV PG-Select

$640
Aicardi-Goutières Syndrome 4 via the RNASEH2A Gene

Test Code

Method

Price

3823

Sequencing with CNV PG-Select

$640
Aicardi-Goutières Syndrome 5 via the SAMHD1 Gene

Test Code

Method

Price

3829

Sequencing with CNV PG-Select

$640
Aicardi-Goutières Syndrome Panel

Test Code

Method

Price

10237

Sequencing with CNV PGxome

$890
Alagille Syndrome Panel

Test Code

Method

Price

10071

Sequencing with CNV PGxome

$890
Alagille Syndrome-1 via the JAG1 Gene

Test Code

Method

Price

15253

Sequencing with CNV PG-Select

$640
Alexander Disease via the GFAP Gene

Test Code

Method

Price

3775

Sanger Sequencing

$870

8231

Sequencing with CNV PGxome

$890
Alkaptonuria via the HGD Gene

Test Code

Method

Price

1188

Sanger Sequencing

$910

9649

Sequencing with CNV PGxome

$890
Alkuraya-Kucinskas Syndrome and Related Disorders via the BLTP1/KIAA1109 Gene

Test Code

Method

Price

6979

Sequencing with CNV PGxome

$890
Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via the SLC16A2 Gene

Test Code

Method

Price

2086

Sanger Sequencing

$680

8515

Sequencing with CNV PGxome

$890
Alpha Thalassemia Deletion/Duplication and Constant Spring Panel

Test Code

Method

Price

6070

MLPA

$540
Alpha Thalassemia Panel

Test Code

Method

Price

6090

Sanger Sequencing and MLPA

$1470
Alpha-1 Antitrypsin Deficiency via the SERPINA1 Gene

Test Code

Method

Price

7813

Sequencing with CNV PG-Select

$640
Alpha-Mannosidosis via the MAN2B1 Gene

Test Code

Method

Price

7901

Sequencing with CNV PG-Select

$640
Alpha-Thalassemia X-linked Intellectual Disability Syndrome via the ATRX Gene

Test Code

Method

Price

9835

Sequencing with CNV PG-Select

$640
Alport Syndrome Panel

Test Code

Method

Price

10147

Sequencing with CNV PGxome

$890
Alport Syndrome via the COL4A3 Gene

Test Code

Method

Price

3121

Sequencing with CNV PG-Select

$640
Alport Syndrome via the COL4A4 Gene

Test Code

Method

Price

11193

Sequencing with CNV PGxome

$890

993

Sanger Sequencing

$2110
Alport Syndrome via the COL4A5 Gene

Test Code

Method

Price

3053

Sequencing with CNV PG-Select

$640
Alstrom Syndrome via the ALMS1 Gene

Test Code

Method

Price

15143

Sequencing with CNV PG-Select

$640
Alzheimer's Disease, Familial or Cerebral Amyloid Angiopathy via the APP Gene

Test Code

Method

Price

4557

Sequencing with CNV PG-Select

$640
Alzheimer's Disease, Familial via the PSEN1 Gene

Test Code

Method

Price

6921

Sequencing with CNV PG-Select

$640
Alzheimer's Disease, Familial via the PSEN2 Gene

Test Code

Method

Price

6923

Sequencing with CNV PG-Select

$640
Alzheimer's Disease, Familial, Panel

Test Code

Method

Price

3409

Sequencing with CNV PG-Select

$640
Ambiguous Genitalia Panel

Test Code

Method

Price

6903

Sequencing with CNV PGxome

$990
Amelogenesis Imperfecta Panel

Test Code

Method

Price

5207

Sequencing with CNV PGxome

$890
Amelogenesis Imperfecta via the AMELX Gene

Test Code

Method

Price

1596

Sanger Sequencing

$440

9161

Sequencing with CNV PGxome

$890
Amelogenesis Imperfecta via the DLX3 Gene

Test Code

Method

Price

9061

Sequencing with CNV PGxome

$890

1603

Sanger Sequencing

$490
Amelogenesis Imperfecta via the ENAM Gene

Test Code

Method

Price

8191

Sequencing with CNV PGxome

$890

1601

Sanger Sequencing

$910
Amelogenesis Imperfecta via the FAM83H Gene

Test Code

Method

Price

8271

Sequencing with CNV PGxome

$890

1600

Sanger Sequencing

$840
Amelogenesis Imperfecta via the KLK4 Gene

Test Code

Method

Price

8713

Sequencing with CNV PGxome

$890

1598

Sanger Sequencing

$610
Amelogenesis Imperfecta via the MMP20 Gene

Test Code

Method

Price

1597

Sanger Sequencing

$780

8367

Sequencing with CNV PGxome

$890
Amelogenesis Imperfecta via the ODAPH (C4orf26) Gene

Test Code

Method

Price

1604

Sanger Sequencing

$490

9059

Sequencing with CNV PGxome

$890
Amelogenesis Imperfecta via the WDR72 Gene

Test Code

Method

Price

1599

Sanger Sequencing

$1220

8041

Sequencing with CNV PGxome

$890
Amelogenesis Imperfecta with Gingival Hyperplasia Syndrome and Amelogenesis Imperfecta with Renal Syndrome via the FAM20A Gene

Test Code

Method

Price

11319

Sequencing with CNV PGxome

$890

1602

Sanger Sequencing

$840
Aminoacylase-1 Deficiency via the ACY1 Gene

Test Code

Method

Price

11067

Sequencing with CNV PGxome

$890

2069

Sanger Sequencing

$810
Amyotrophic Lateral Sclerosis (ALS) Panel

Test Code

Method

Price

10155

Sequencing with CNV PGxome

$890
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel

Test Code

Method

Price

10359

Sequencing with CNV PGxome

$930
Amyotrophic Lateral Sclerosis (ALS) via the hnRNPA1 Gene

Test Code

Method

Price

9967

Sequencing with CNV PG-Select

$640
Amyotrophic Lateral Sclerosis (ALS)/Motor Neuron Disease via the SOD1 Gene

Test Code

Method

Price

8949

Sequencing with CNV PG-Select

$640
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the ANXA11 Gene

Test Code

Method

Price

8097

Sequencing with CNV PG-Select

$640
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the FUS Gene

Test Code

Method

Price

6927

Sequencing with CNV PG-Select

$640
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia via the CHMP2B Gene

Test Code

Method

Price

3487

Sequencing with CNV PG-Select

$640
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia via the TBK1 Gene

Test Code

Method

Price

10485

Sequencing with CNV PG-Select

$640
Amyotrophic Lateral Sclerosis via the ANG Gene

Test Code

Method

Price

9225

Sequencing with CNV PG-Select

$640
Amyotrophic Lateral Sclerosis via the ARHGEF28 Gene

Test Code

Method

Price

10607

Sequencing with CNV PG-Select

$640
Amyotrophic Lateral Sclerosis via the OPTN Gene

Test Code

Method

Price

6929

Sequencing with CNV PG-Select

$640
Amyotrophic Lateral Sclerosis via the UBQLN2 Gene

Test Code

Method

Price

8951

Sequencing with CNV PGxome

$890

158

Sanger Sequencing

$540
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via the PFN1 Gene

Test Code

Method

Price

8947

Sequencing with CNV PG-Select

$640
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via the TARDBP Gene

Test Code

Method

Price

8829

Sequencing with CNV PG-Select

$640
Andermann Syndrome via the SLC12A6 Gene

Test Code

Method

Price

4947

Sequencing with CNV PG-Select

$640
Andersen-Tawil Syndrome/Long QT Syndrome via the KCNJ2 Gene

Test Code

Method

Price

1042

Sanger Sequencing

$440

9163

Sequencing with CNV PGxome

$890
Androgen Insensitivity Syndrome (AIS) via the Androgen Receptor (AR) Gene

Test Code

Method

Price

7577

Sequencing with CNV PG-Select

$640
Angelman Syndrome by MS-MLPA

Test Code

Method

Price

2056

MS-MLPA

$540
Angelman Syndrome via the UBE3A Gene

Test Code

Method

Price

8321

Sequencing with CNV PG-Select

$640
Aniridia via the PAX6 Gene

Test Code

Method

Price

1483

Sanger Sequencing

$910

8193

Sequencing with CNV PGxome

$890
Anterior Segment Dysgenesis Disorders Panel

Test Code

Method

Price

12003

Sequencing with CNV PGxome

$1490
Anterior Segment Dysgenesis via the CPAMD8 Gene

Test Code

Method

Price

13033

Sequencing with CNV PGxome

$890
Anterior Segment Dysgenesis via the FOXE3 Gene

Test Code

Method

Price

1821

Sanger Sequencing

$580
Anti-Plasmin Deficiency via the SERPINF2 Gene

Test Code

Method

Price

2233

Sanger Sequencing

$780

4231

Sequencing with CNV PGxome

$890
Antithrombin Deficiency via the SERPINC1 Gene

Test Code

Method

Price

1574

Sanger Sequencing

$780

8369

Sequencing with CNV PGxome

$890
Aplastic Anemia and Myelodysplastic Syndrome via the SRP72 Gene

Test Code

Method

Price

5271

Sequencing with CNV PG-Select

$640
Apparent Mineralocorticoid Excess via the HSD11B2 Gene

Test Code

Method

Price

1269

Sanger Sequencing

$680

9969

Sequencing with CNV PGxome

$890
Argininemia via the ARG1 Gene

Test Code

Method

Price

552

Sanger Sequencing

$710

11825

Sequencing with CNV PGxome

$890
Argininosuccinate Lyase Deficiency via the ASL Gene

Test Code

Method

Price

1181

Sanger Sequencing

$970

9531

Sequencing with CNV PGxome

$890
Aromatic L-amino Acid Decarboxylase Deficiency via the DDC Gene

Test Code

Method

Price

1874

Sanger Sequencing

$870

8233

Sequencing with CNV PGxome

$890
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)/Dysplasia Panel

Test Code

Method

Price

10261

Sequencing with CNV PGxome

$890
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP-Related Disorders via the DSP Gene

Test Code

Method

Price

11267

Sequencing with CNV PGxome

$890

203

Sanger Sequencing

$1690
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and Loeys-Dietz Syndrome via the TGFB3 Gene

Test Code

Method

Price

3983

Sequencing with CNV PG-Select

$640
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSC2 Gene

Test Code

Method

Price

11263

Sequencing with CNV PGxome

$890

206

Sanger Sequencing

$910
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSG2 Gene

Test Code

Method

Price

11265

Sequencing with CNV PGxome

$890

205

Sanger Sequencing

$940
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the PKP2 Gene

Test Code

Method

Price

204

Sanger Sequencing

$840

9913

Sequencing with CNV PGxome

$890
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the TMEM43 Gene

Test Code

Method

Price

11753

Sequencing with CNV PGxome

$890

209

Sanger Sequencing

$780
Arterial tortuosity syndrome (ATS) via the SLC2A10 Gene

Test Code

Method

Price

6939

Sequencing with CNV PG-Select

$640
Arthrogryposis Multiplex Congenita 4 via the SCYL2 Gene

Test Code

Method

Price

13329

Sequencing with CNV PGxome

$990
Arthrogryposis Multiplex Congenita via the ERGIC1 Gene

Test Code

Method

Price

13081

Sequencing with CNV PGxome

$890
Arthrogryposis Multiplex Congenita via the UNC50 Gene

Test Code

Method

Price

13327

Sequencing with CNV PGxome

$890
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VIPAS39 Gene

Test Code

Method

Price

15411

Sequencing with CNV PG-Select

$640
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VPS33B Gene

Test Code

Method

Price

15413

Sequencing with CNV PG-Select

$640
Aspartylglucosaminuria via the AGA Gene

Test Code

Method

Price

1558

Sanger Sequencing

$750

9513

Sequencing with CNV PGxome

$890
Ataxia Telangiectasia Syndrome via the ATM Gene

Test Code

Method

Price

3049

Sequencing with CNV PG-Select

$540
Ataxia with Oculomotor Apraxia Panel

Test Code

Method

Price

10113

Sequencing with CNV PGxome

$890
Ataxia-Telangiectasia-Like Disorder via the MRE11/MRE11A Gene

Test Code

Method

Price

4833

Sequencing with CNV PG-Select

$640
Atrial Fibrillation Syndrome via the KCNA5 Gene

Test Code

Method

Price

2195

Sanger Sequencing

$250

3967

Sequencing with CNV PGxome

$890
Atrial Fibrillation Syndrome via the KCNE5 Gene

Test Code

Method

Price

11419

Sequencing with CNV PGxome

$890

2920

Sanger Sequencing

$440
Atrial Fibrillation Syndrome via the MYL4 Gene

Test Code

Method

Price

5117

Sanger Sequencing

$710

8463

Sequencing with CNV PGxome

$890
Atrial Fibrillation Syndrome via the NPPA Gene

Test Code

Method

Price

2201

Sanger Sequencing

$490

3975

Sequencing with CNV PGxome

$890
Atrial Fibrillation via the GJA5 Gene

Test Code

Method

Price

9063

Sequencing with CNV PGxome

$890

2194

Sanger Sequencing

$490
Atrial Fibrillation via the SCN2B Gene

Test Code

Method

Price

11643

Sequencing with CNV PGxome

$890

2489

Sanger Sequencing

$580
Atypical Hemolytic-Uremic Syndrome and Nephrotic Syndrome via the DGKE Gene

Test Code

Method

Price

11227

Sequencing with CNV PGxome

$890

1507

Sanger Sequencing

$910
Autism Spectrum Disorders (ASD) Panel

Test Code

Method

Price

5061

Sequencing with CNV PGxome

$1280
Autism Spectrum Disorders (ASD) via the NLGN4X Gene

Test Code

Method

Price

2214

Sanger Sequencing

$910

9893

Sequencing with CNV PGxome

$890
Autism Spectrum Disorders and CTNND2-Related Disorders via the CTNND2 Gene

Test Code

Method

Price

9809

Sequencing with CNV PGxome

$890
Autism Spectrum Disorders via the CACNA2D3 Gene

Test Code

Method

Price

9807

Sequencing with CNV PGxome

$890
Autism Spectrum Disorders via the CHD8 Gene

Test Code

Method

Price

5411

Sequencing with CNV PGxome

$890

3760

Sanger Sequencing

$2080
Autism Spectrum Disorders via the DSCAM Gene

Test Code

Method

Price

5409

Sequencing with CNV PGxome

$890

3762

Sanger Sequencing

$1800
Autism Spectrum Disorders via the FOXP1 Gene

Test Code

Method

Price

3763

Sanger Sequencing

$970

8139

Sequencing with CNV PGxome

$890
Autism Spectrum Disorders via the KATNAL2 Gene

Test Code

Method

Price

9817

Sequencing with CNV PGxome

$890
Autism Spectrum Disorders via the KMT5B (SUV420H1) Gene

Test Code

Method

Price

3770

Sanger Sequencing

$970

8141

Sequencing with CNV PGxome

$890
Autism Spectrum Disorders via the TRIP12 Gene

Test Code

Method

Price

15403

Sequencing with CNV PG-Select

$640
Autism Spectrum Disorders/Intellectual Disability via the ASH1L Gene

Test Code

Method

Price

5249

Sequencing with CNV PGxome

$890

3757

Sanger Sequencing

$2170
Autism Spectrum Disorders/Intellectual Disability via the IRF2BPL Gene

Test Code

Method

Price

12085

Sequencing with CNV PGxome

$890

6441

Sanger Sequencing

$840
Autism Spectrum Disorders/Intellectual Disability via the MED13 Gene

Test Code

Method

Price

12083

Sequencing with CNV PGxome

$890
Autism Spectrum Disorders/Intellectual Disability via the NAA15 Gene

Test Code

Method

Price

12091

Sequencing with CNV PGxome

$890
Autoimmune Lymphoproliferative Syndrome via the FAS Gene

Test Code

Method

Price

1648

Sanger Sequencing

$810

8323

Sequencing with CNV PGxome

$890
Autoimmune Lymphoproliferative Syndrome/ALPS Panel

Test Code

Method

Price

4921

Sequencing with CNV PGxome

$890
Autoimmune Polyendocrinopathy Syndrome Type 1 via the AIRE Gene

Test Code

Method

Price

7569

Sequencing with CNV PG-Select

$640
Autosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via the GUCA1A Gene

Test Code

Method

Price

678

Sanger Sequencing

$490

9065

Sequencing with CNV PGxome

$890
Autosomal Dominant Cone-Rod Dystrophy via the RIMS1 Gene

Test Code

Method

Price

11621

Sequencing with CNV PGxome

$890

2227

Sanger Sequencing

$1870
Autosomal Dominant Congenital Cataracts via the MIP Gene

Test Code

Method

Price

2927

Sanger Sequencing

$580

3929

Sequencing with CNV PGxome

$890
Autosomal Dominant DOPA-Responsive Dystonia via the GCH1 Gene

Test Code

Method

Price

8517

Sequencing with CNV PG-Select

$640
Autosomal Dominant Hyper IgE Syndrome via the STAT3 Gene

Test Code

Method

Price

11719

Sequencing with CNV PGxome

$890

1613

Sanger Sequencing

$1310
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E (LGMD1E) via the DNAJB6 Gene

Test Code

Method

Price

11247

Sequencing with CNV PGxome

$890

899

Sanger Sequencing

$770
Autosomal Dominant Lower Extremity-Predominant Spinal Muscular Atrophy Type 2 via the BICD2 Gene

Test Code

Method

Price

12633

Sequencing with CNV PGxome

$890

2501

Sanger Sequencing

$810
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the CHRNA4 Gene

Test Code

Method

Price

2681

Sequencing with CNV PG-Select

$640
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the CHRNB2 Gene

Test Code

Method

Price

8627

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

Test Code

Method

Price

11543

Sequencing with CNV PGxome

$890

566

Sanger Sequencing

$1750
Autosomal Dominant Optic Atrophy with Cataract (ADOAC) and Costeff Syndrome or 3-Methylglutaconic Aciduria, Type III (MGA3) via the OPA3 Gene

Test Code

Method

Price

7769

Sequencing with CNV PG-Select

$640
Autosomal Dominant Polycystic Kidney Disease (ADPKD) Panel

Test Code

Method

Price

10149

Sequencing with CNV PGxome

$890
Autosomal Dominant Polycystic Kidney Disease (ADPKD) via the DNAJB11 Gene

Test Code

Method

Price

10473

Sequencing with CNV PGxome

$890
Autosomal Dominant Polycystic Kidney Disease (ADPKD) via the GANAB Gene

Test Code

Method

Price

10459

Sequencing with CNV PGxome

$890
Autosomal Dominant Polycystic Kidney Disease via MLPA of PKD1

Test Code

Method

Price

2058

MLPA

$540
Autosomal Dominant Polycystic Kidney Disease via the PKD1 Gene

Test Code

Method

Price

10453

Sequencing with CNV PGxome

$890

186

Sanger Sequencing

$2490
Autosomal Dominant Polycystic Kidney Disease via the PKD2 Gene

Test Code

Method

Price

10455

Sequencing with CNV PGxome

$890

187

Sanger Sequencing

$1130
Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via the SLC25A4 Gene

Test Code

Method

Price

1250

Sanger Sequencing

$580

8831

Sequencing with CNV PGxome

$890
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-Related Disorders via the TWNK/C10orf2 Gene

Test Code

Method

Price

1255

Sanger Sequencing

$680

8519

Sequencing with CNV PGxome

$890
Autosomal Dominant Progressive External Ophthalmoplegia via the DNA2 Gene

Test Code

Method

Price

11233

Sequencing with CNV PGxome

$890

1253

Sanger Sequencing

$1340
Autosomal Dominant Progressive External Ophthalmoplegia via the POLG2 Gene

Test Code

Method

Price

11597

Sequencing with CNV PGxome

$890

1248

Sanger Sequencing

$710
Autosomal Dominant Pseudohypoaldosteronism Type 1 via the NR3C2 Gene

Test Code

Method

Price

11527

Sequencing with CNV PGxome

$890

1271

Sanger Sequencing

$910
Autosomal Dominant Retinitis Pigmentosa (RP) Panel

Test Code

Method

Price

4309

Sequencing with CNV PGxome

$890
Autosomal Dominant Retinitis Pigmentosa 17 (RP17) via the CA4 Gene

Test Code

Method

Price

8521

Sequencing with CNV PGxome

$890

675

Sanger Sequencing

$680
Autosomal Dominant Retinitis Pigmentosa 27 (RP27) and Autosomal Recessive Retinal Degeneration, Clumped Pigment Type via the NRL Gene

Test Code

Method

Price

689

Sanger Sequencing

$490

9067

Sequencing with CNV PGxome

$890
Autosomal Dominant Retinitis Pigmentosa 31 (RP31) via the TOPORS Gene

Test Code

Method

Price

674

Sanger Sequencing

$810

8325

Sequencing with CNV PGxome

$890
Autosomal Dominant Retinitis Pigmentosa 48 (RP48) via the GUCA1B Gene

Test Code

Method

Price

1571

Sanger Sequencing

$490

9069

Sequencing with CNV PGxome

$890
Autosomal Dominant Retinitis Pigmentosa via the PRPF6 Gene

Test Code

Method

Price

4915

Sequencing with CNV PGxome

$890
Autosomal Dominant Retinitis Pigmentosa via the SNRNP200 Gene

Test Code

Method

Price

4927

Sequencing with CNV PGxome

$890
Autosomal Dominant Stargardt disease (STGD3) via the ELOVL4 Gene

Test Code

Method

Price

1848

Sanger Sequencing

$610

8715

Sequencing with CNV PGxome

$890
Autosomal Dominant Vitelliform Macular Dystrophy via the IMPG1 Gene

Test Code

Method

Price

10659

Sequencing with CNV PGxome

$890
Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Panel

Test Code

Method

Price

10189

Sequencing with CNV PGxome

$890
Autosomal Dominant, Non-Syndromic Holoprosencephaly via the GAS1 Gene

Test Code

Method

Price

587

Sanger Sequencing

$440

10043

Sequencing with CNV PGxome

$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ABCA12 Gene

Test Code

Method

Price

9833

Sequencing with CNV PGxome

$890

1165

Sanger Sequencing

2,670
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ALOX12B Gene

Test Code

Method

Price

8115

Sequencing with CNV PGxome

$890

1162

Sanger Sequencing

$990
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ALOXE3 Gene

Test Code

Method

Price

1164

Sanger Sequencing

$940

8163

Sequencing with CNV PGxome

$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via the CYP4F22 Gene

Test Code

Method

Price

8165

Sequencing with CNV PGxome

$890

1163

Sanger Sequencing

$940
Autosomal Recessive Congenital Ichthyosis (ARCI) via the NIPAL4 Gene

Test Code

Method

Price

1166

Sanger Sequencing

$610

8717

Sequencing with CNV PGxome

$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via the PNPLA1 Gene

Test Code

Method

Price

1167

Sanger Sequencing

$750

8405

Sequencing with CNV PGxome

$890
Autosomal Recessive Congenital Ichthyosis (ARCI) via the TGM1 Gene

Test Code

Method

Price

7843

Sequencing with CNV PG-Select

$640
Autosomal Recessive Cutis Laxa Type 3A (ARCL3A) via the ALDH18A1 Gene

Test Code

Method

Price

8099

Sequencing with CNV PG-Select

$640
Autosomal Recessive Cutis Laxa Type IIA (ARCL2A) and Wrinkly Skin Syndrome (WSS) via the ATP6V0A2 Gene

Test Code

Method

Price

8031

Sequencing with CNV PG-Select

$640
Autosomal Recessive DOPA-Responsive Dystonia via the TH Gene

Test Code

Method

Price

7845

Sequencing with CNV PG-Select

$640
Autosomal Recessive Hyper IgE Syndrome via the DOCK8 Gene

Test Code

Method

Price

11257

Sequencing with CNV PGxome

$890

2590

Sanger Sequencing

$2450
Autosomal Recessive Isolated Ectopia Lentis-2 via the ADAMTSL4 Gene

Test Code

Method

Price

1542

Sanger Sequencing

$1190

8051

Sequencing with CNV PGxome

$890
Autosomal Recessive Mitochondrial Pyruvate Carrier Deficiency (MPYCD) via the MPC1 (BRP44L) Gene

Test Code

Method

Price

2955

Sanger Sequencing

$610

8719

Sequencing with CNV PGxome

$890
Autosomal Recessive Neurodevelopmental Disorder with Structural Brain Anomalies via the PTPN23 Gene

Test Code

Method

Price

13085

Sequencing with CNV PGxome

$890
Autosomal Recessive Polycystic Kidney Disease (ARPKD) Panel

Test Code

Method

Price

10463

Sequencing with CNV PGxome

$890
Autosomal Recessive Polycystic Kidney Disease (ARPKD) via the DZIP1L Gene

Test Code

Method

Price

10461

Sequencing with CNV PGxome

$890
Autosomal Recessive Polycystic Kidney Disease (ARPKD) via the PKHD1 Gene

Test Code

Method

Price

1917

Sequencing with CNV PG-Select

$640
Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1A Gene

Test Code

Method

Price

11647

Sequencing with CNV PGxome

$890

1272

Sanger Sequencing

$780
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Panel

Test Code

Method

Price

10151

Sequencing with CNV PGxome

$890
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the ACE Gene

Test Code

Method

Price

11057

Sequencing with CNV PGxome

$890

1622

Sanger Sequencing

$1400
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the AGT Gene

Test Code

Method

Price

1623

Sanger Sequencing

$680

8523

Sequencing with CNV PGxome

$890
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the AGTR1 Gene

Test Code

Method

Price

1624

Sanger Sequencing

$540

8953

Sequencing with CNV PGxome

$890
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the REN Gene

Test Code

Method

Price

11617

Sequencing with CNV PGxome

$890

1625

Sanger Sequencing

$750
Autosomal Recessive Retinitis Pigmentosa (RP) Panel

Test Code

Method

Price

4311

Sequencing with CNV PGxome

$990
Autosomal Recessive Retinitis Pigmentosa (RP28) via the FAM161A Gene

Test Code

Method

Price

7645

Sequencing with CNV PG-Select

$640
Autosomal Recessive Retinitis Pigmentosa 26 (RP26) via the CERKL Gene

Test Code

Method

Price

6953

Sequencing with CNV PG-Select

$640
Autosomal Recessive Retinitis Pigmentosa 36 (RP36) via the PRCD Gene

Test Code

Method

Price

2440

Sanger Sequencing

$490

9071

Sequencing with CNV PGxome

$890
Autosomal Recessive Retinitis Pigmentosa 59 (RP59) via the DHDDS Gene

Test Code

Method

Price

7625

Sequencing with CNV PG-Select

$640
Autosomal Recessive Retinitis Pigmentosa 66 (RP66) via the RBP3 Gene

Test Code

Method

Price

13079

Sequencing with CNV PGxome

$890

2443

Sanger Sequencing

$910
Autosomal Recessive Retinitis Pigmentosa 69 (RP69) via the IMPG2 Gene

Test Code

Method

Price

2431

Sanger Sequencing

$990

10643

Sequencing with CNV PGxome

$890
Autosomal Recessive Retinitis Pigmentosa 69 (RP69) via the KIZ Gene

Test Code

Method

Price

10609

Sequencing with CNV PGxome

$890
Autosomal Recessive Retinitis Pigmentosa 77 (RP77) via the REEP6 Gene

Test Code

Method

Price

10487

Sequencing with CNV PGxome

$890
Autosomal Recessive Retinitis Pigmentosa via the EYS Gene

Test Code

Method

Price

4913

Sequencing with CNV PG-Select

$640
Autosomal Recessive Retinitis Pigmentosa via the FLVCR1 Gene

Test Code

Method

Price

2425

Sanger Sequencing

$990

4897

Sequencing with CNV PGxome

$890
Autosomal Recessive Retinitis Pigmentosa via the SLC7A14 Gene

Test Code

Method

Price

2447

Sanger Sequencing

$750

8407

Sequencing with CNV PGxome

$890
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) via the SACS Gene

Test Code

Method

Price

7915

Sequencing with CNV PG-Select

$640
Autosomal Recessive Spinocerebellar Ataxia Type 4 (SCAR4) via the VPS13D Gene

Test Code

Method

Price

15131

Sequencing with CNV PGxome

$890
Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via the SETX Gene

Test Code

Method

Price

3227

Sequencing with CNV PG-Select

$640
Autosomal Recessive Spinocerebellar Ataxia-10 via the ANO10 Gene

Test Code

Method

Price

9911

Sequencing with CNV PGxome

$890

916

Sanger Sequencing

$860
Autosomal Recessive Transient Infantile Liver Failure (LFIT) via the TRMU Gene

Test Code

Method

Price

15405

Sequencing with CNV PG-Select

$640
Autosomal-Recessive Intellectual Disability via the NRXN1 Gene

Test Code

Method

Price

4849

Sequencing with CNV PG-Select

$640
Axenfeld-Rieger Syndrome Panel

Test Code

Method

Price

10263

Sequencing with CNV PGxome

$890