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Tests and Panels

MGME1-Related Mitochondrial DNA Depletion Syndrome via the MGME1 Gene

Test Code

Method

Price

2926

Sanger Sequencing

$580

8891

Sequencing with CNV PGxome

$990
MPZ-Related Neuropathies via the MPZ Gene

Test Code

Method

Price

2046

Sanger Sequencing

$650

8677

Sequencing with CNV PGxome

$990
MUTYH Associated Polyposis (MAP) Syndrome via the MUTYH Gene

Test Code

Method

Price

7505

Sequencing with CNV PG-Select

$990
Macular Corneal Dystrophy (MCD) via the CHST6 Gene

Test Code

Method

Price

1822

Sanger Sequencing

$370

9239

Sequencing with CNV PGxome

$990
Majeed Syndrome via the LPIN2 Gene

Test Code

Method

Price

11453

Sequencing with CNV PGxome

$990

2126

Sanger Sequencing

$1220
Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy via the EFEMP1 Gene

Test Code

Method

Price

2018

Sanger Sequencing

$810

8341

Sequencing with CNV PGxome

$990
Male Infertility Panel

Test Code

Method

Price

4511

Sequencing with CNV PGxome

$1290
Male Infertility via the CATSPER1 Gene

Test Code

Method

Price

1743

Sanger Sequencing

$1060

9875

Sequencing with CNV PGxome

$990
Male Infertility with Globozoospermia via the PICK1 Gene

Test Code

Method

Price

1741

Sanger Sequencing

$870

8243

Sequencing with CNV PGxome

$990
Male Infertility with Large-Headed Spermatozoa via the AURKC Gene

Test Code

Method

Price

731

Sanger Sequencing

$650

8669

Sequencing with CNV PGxome

$990
Male and Female Infertility via the FSHB Gene

Test Code

Method

Price

9241

Sequencing with CNV PGxome

$990

734

Sanger Sequencing

$370
Malignant Hyperthermia Susceptibility Panel

Test Code

Method

Price

10059

Sequencing with CNV PGxome

$990
Malonyl-CoA Decarboxylase Deficiency via the MLYCD Gene

Test Code

Method

Price

3370

Sanger Sequencing

$680

8567

Sequencing with CNV PGxome

$990
Mandibulofacial Dysostosis, Guion-Almeida Type via the EFTUD2 Gene

Test Code

Method

Price

11281

Sequencing with CNV PGxome

$990

873

Sanger Sequencing

$1340
Manitoba Oculotrichoanal Syndrome (MOTA) via the FREM1 Exon 8-23 Deletion

Test Code

Method

Price

3782

Targeted Deletion

$250
Maple Syrup Urine Disease Type IA via the BCKDHA Gene

Test Code

Method

Price

526

Sanger Sequencing

$710

9391

Sequencing with CNV PGxome

$990
Maple Syrup Urine Disease Type IB via the BCKDHB Gene

Test Code

Method

Price

527

Sanger Sequencing

$810

9393

Sequencing with CNV PGxome

$990
Maple Syrup Urine Disease Type II via the DBT Gene

Test Code

Method

Price

528

Sanger Sequencing

$890

9395

Sequencing with CNV PGxome

$990
Marfan Syndrome and Related Aortopathies Panel (Exome)

Test Code

Method

Price

10363

Sequencing with CNV PGxome

$990
Marfan Syndrome via the FBN1 Gene

Test Code

Method

Price

3057

Sequencing with CNV PG-Select

$990
Marinesco-Sjogren Syndrome via the SIL1 Gene

Test Code

Method

Price

11667

Sequencing with CNV PGxome

$990

1674

Sanger Sequencing

$750
Maturity Onset Diabetes of Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the NEUROD1 Gene

Test Code

Method

Price

2061

Sanger Sequencing

$540

9011

Sequencing with CNV PGxome

$990
Maturity Onset Diabetes of Young (MODY) via the KLF11 Gene

Test Code

Method

Price

2163

Sanger Sequencing

$680

8569

Sequencing with CNV PGxome

$990
Maturity Onset Diabetes of Young (MODY) via the PDX1 Gene

Test Code

Method

Price

1832

Sanger Sequencing

$490

9125

Sequencing with CNV PGxome

$990
Maturity Onset Diabetes of the Young (MODY) Panel

Test Code

Method

Price

10305

Sequencing with CNV PGxome

$990
Maturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the INS Gene

Test Code

Method

Price

15167

Sequencing with CNV PG-Select

$990
Maturity Onset Diabetes of the Young (MODY) via the APPL1 Gene

Test Code

Method

Price

9831

Sequencing with CNV PGxome

$990
Maturity Onset Diabetes of the Young (MODY) via the BLK Gene

Test Code

Method

Price

11111

Sequencing with CNV PGxome

$990

2162

Sanger Sequencing

$870
Maturity Onset Diabetes of the Young (MODY) via the HNF1A Gene

Test Code

Method

Price

11375

Sequencing with CNV PGxome

$990

2021

Sanger Sequencing

$940
Maturity Onset Diabetes of the Young (MODY) via the HNF4A Gene

Test Code

Method

Price

11377

Sequencing with CNV PGxome

$990

2022

Sanger Sequencing

$940
Maturity Onset Diabetes of the Young (MODY) via the PAX4 Gene

Test Code

Method

Price

11553

Sequencing with CNV PGxome

$990

2164

Sanger Sequencing

$780
McLeod Syndrome via the XK Gene

Test Code

Method

Price

1716

Sanger Sequencing

$610

8767

Sequencing with CNV PGxome

$990
Meckel-Gruber Syndrome / Joubert Syndrome via the TCTN2 Gene

Test Code

Method

Price

576

Sanger Sequencing

$1010

11041

Sequencing with CNV PGxome

$990
Meckel-Gruber syndrome via the B9D1 Gene

Test Code

Method

Price

577

Sanger Sequencing

$610

8769

Sequencing with CNV PGxome

$990
Medium Chain Acyl-CoA Dehydrogenase Deficiency via the ACADM Gene

Test Code

Method

Price

180

Sanger Sequencing

$750

9505

Sequencing with CNV PGxome

$990
Medullary Cystic Kidney Disease type 2 and Familial Juvenile Hyperuricemic Nephropathy type 1 via the UMOD Gene

Test Code

Method

Price

1681

Sanger Sequencing

$910

8209

Sequencing with CNV PGxome

$990
Medulloblastoma Panel

Test Code

Method

Price

13023

Sequencing with CNV PGxome

$990
Meesmann Corneal Dystrophy (MCD) via the KRT12 Gene

Test Code

Method

Price

2720

Sanger Sequencing

$780

8387

Sequencing with CNV PGxome

$990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 via the PIK3R2 Gene

Test Code

Method

Price

13351

Sequencing with CNV PGxome

$990

5767

Sanger Sequencing

$940
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 via the AKT3 Gene

Test Code

Method

Price

13343

Sequencing with CNV PGxome

$990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 via the CCND2 Gene

Test Code

Method

Price

13331

Sequencing with CNV PGxome

$990
Meier-Gorlin Syndrome Panel

Test Code

Method

Price

10207

Sequencing with CNV PGxome

$990
Meier-Gorlin Syndrome via the CDC6 Gene

Test Code

Method

Price

11163

Sequencing with CNV PGxome

$990

955

Sanger Sequencing

$910
Meier-Gorlin Syndrome via the CDT1 Gene

Test Code

Method

Price

11169

Sequencing with CNV PGxome

$990

954

Sanger Sequencing

$780
Meier-Gorlin Syndrome via the ORC1 Gene

Test Code

Method

Price

11545

Sequencing with CNV PGxome

$990

951

Sanger Sequencing

$990
Meier-Gorlin Syndrome via the ORC4 Gene

Test Code

Method

Price

952

Sanger Sequencing

$810

8343

Sequencing with CNV PGxome

$990
Meier-Gorlin Syndrome via the ORC6 Gene

Test Code

Method

Price

953

Sanger Sequencing

$650

8671

Sequencing with CNV PGxome

$990
Melanoma Predisposition via the CDK4 Gene

Test Code

Method

Price

7395

Sequencing with CNV PG-Select

$990
Melanoma Predisposition via the CDKN2A Gene

Test Code

Method

Price

7397

Sequencing with CNV PG-Select

$990
Mendelian Susceptibility to Mycobacterial Disease Panel

Test Code

Method

Price

13071

Sequencing with CNV PGxome

$990
Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance via the OPHN1 Gene

Test Code

Method

Price

297

Sanger Sequencing

$1190

9857

Sequencing with CNV PGxome

$990
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene

Test Code

Method

Price

11441

Sequencing with CNV PGxome

$990

345

Sanger Sequencing

$2580
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene, Exon 55

Test Code

Method

Price

245

Sanger Sequencing

$250
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction (MSSD) via the BHLHA9 Gene

Test Code

Method

Price

2878

Sanger Sequencing

$490

10041

Sequencing with CNV PGxome

$990
Metabolic Hypoglycemia Panel

Test Code

Method

Price

10365

Sequencing with CNV PGxome

$990
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

Test Code

Method

Price

10049

Sequencing with CNV PGxome

$990
Metaphyseal Chondrodysplasia, Schmid Type (MCDS) via the COL10A1 Gene

Test Code

Method

Price

8771

Sequencing with CNV PGxome

$990

802

Sanger Sequencing

$610
Methionine Adenosyltransferase I/III Deficiency via the MAT1A Gene

Test Code

Method

Price

1239

Sanger Sequencing

$710

8479

Sequencing with CNV PGxome

$990
Methlymalonyl-CoA Epimerase Deficiency via the MCEE Gene

Test Code

Method

Price

2192

Sanger Sequencing

$540

9013

Sequencing with CNV PGxome

$990
Methylmalonate Semialdehyde Dehydrogenase Deficiency via the ALDH6A1 Gene

Test Code

Method

Price

11823

Sequencing with CNV PGxome

$990
Methylmalonic Acidemia Panel

Test Code

Method

Price

10295

Sequencing with CNV PGxome

$990
Methylmalonic Acidemia via the MMUT/MUT Gene

Test Code

Method

Price

311

Sanger Sequencing

$780

9707

Sequencing with CNV PGxome

$990
Methylmalonic Acidemia, cblA type, via the MMAA Gene

Test Code

Method

Price

312

Sanger Sequencing

$580

9695

Sequencing with CNV PGxome

$990
Methylmalonic Acidemia, cblB type, via the MMAB Gene

Test Code

Method

Price

313

Sanger Sequencing

$650

9697

Sequencing with CNV PGxome

$990
Methylmalonic Aciduria and Homocystinuria Panel

Test Code

Method

Price

10245

Sequencing with CNV PGxome

$990
Methylmalonic Aciduria and Homocystinuria, cblC type, via the MMACHC Gene

Test Code

Method

Price

211

Sanger Sequencing

$540

9699

Sequencing with CNV PGxome

$990
Methylmalonic Aciduria and Homocystinuria, cblD Type, via the MMADHC Gene

Test Code

Method

Price

8673

Sequencing with CNV PGxome

$990

212

Sanger Sequencing

$650
Methylmalonic Aciduria and Homocystinuria, cblF type, via the LMBRD1 Gene

Test Code

Method

Price

326

Sanger Sequencing

$990

11837

Sequencing with CNV PGxome

$990
Methylmalonic Aciduria and Homocystinuria, cblJ Type, via the ABCD4 Gene

Test Code

Method

Price

1451

Sanger Sequencing

$1160

11821

Sequencing with CNV PGxome

$990
Methylmalonic Aciduria and/or Homocystinuria via the CD320 Gene

Test Code

Method

Price

1452

Sanger Sequencing

$610

8773

Sequencing with CNV PGxome

$990
Microcephaly, Lymphedema, and Chorioretinal Dysplasia (MLCRD) / Chorioretinal Dysplasia, Microcephaly, and Mental Retardation (CDMMR) / Familial Exudative Vitreoretinopathy (FEVR) via the KIF11 Gene

Test Code

Method

Price

11425

Sequencing with CNV PGxome

$990

780

Sanger Sequencing

$1380
Microform Holoprosencephaly (HPE10) via the DISP1 Gene

Test Code

Method

Price

11231

Sequencing with CNV PGxome

$990

588

Sanger Sequencing

$940
Microphthalmia and Anophthalmia via the RAX Gene

Test Code

Method

Price

2542

Sanger Sequencing

$540

3941

Sequencing with CNV PGxome

$990
Microphthalmia/Anophthalmia/Coloboma Panel

Test Code

Method

Price

10333

Sequencing with CNV PGxome

$990
Miller Syndrome via the DHODH Gene

Test Code

Method

Price

11229

Sequencing with CNV PGxome

$990

1019

Sanger Sequencing

$750
Miller-Dieker Lissencephaly Syndrome via the YWHAE Gene

Test Code

Method

Price

8893

Sequencing with CNV PGxome

$990

505

Sanger Sequencing

$580
Milroy Disease (Lymphedema Type I) via the FLT4 Gene

Test Code

Method

Price

11339

Sequencing with CNV PGxome

$990

287

Sanger Sequencing

$1620
Mitochondrial Combined Oxidative Phosphorylation Deficiency via the MTFMT Gene

Test Code

Method

Price

3325

Sanger Sequencing

$810

9929

Sequencing with CNV PGxome

$990
Mitochondrial Complex I Deficiency Panel (Nuclear Genes)

Test Code

Method

Price

3455

Sequencing with CNV PGxome

$990
Mitochondrial Complex I Deficiency via the NDUFA1 Gene

Test Code

Method

Price

3304

Sanger Sequencing

$490

9127

Sequencing with CNV PGxome

$990
Mitochondrial Complex I Deficiency via the NDUFA11 Gene

Test Code

Method

Price

3328

Sanger Sequencing

$580

8895

Sequencing with CNV PGxome

$990
Mitochondrial Complex I Deficiency via the NDUFAF1 Gene

Test Code

Method

Price

3345

Sanger Sequencing

$610

8775

Sequencing with CNV PGxome

$990
Mitochondrial Complex I Deficiency via the NDUFAF4 Gene

Test Code

Method

Price

3339

Sanger Sequencing

$540

9015

Sequencing with CNV PGxome

$990
Mitochondrial Complex I Deficiency via the NDUFB3 Gene

Test Code

Method

Price

3334

Sanger Sequencing

$490

9129

Sequencing with CNV PGxome

$990
Mitochondrial Complex I Deficiency via the NDUFB9 Gene

Test Code

Method

Price

3340

Sanger Sequencing

$580

8897

Sequencing with CNV PGxome

$990
Mitochondrial Complex I Deficiency via the NDUFS4 Gene

Test Code

Method

Price

3317

Sanger Sequencing

$650

8675

Sequencing with CNV PGxome

$990
Mitochondrial Complex I Deficiency via the NDUFS6 Gene

Test Code

Method

Price

3336

Sanger Sequencing

$580

8899

Sequencing with CNV PGxome

$990
Mitochondrial Complex I Deficiency via the NDUFV1 Gene

Test Code

Method

Price

3319

Sanger Sequencing

$710

8481

Sequencing with CNV PGxome

$990
Mitochondrial Complex I Deficiency via the NDUFV2 Gene

Test Code

Method

Price

3324

Sanger Sequencing

$750

8431

Sequencing with CNV PGxome

$990
Mitochondrial Complex I Deficiency via the NUBPL Gene

Test Code

Method

Price

3344

Sanger Sequencing

$870

8245

Sequencing with CNV PGxome

$990
Mitochondrial Complex II Deficiency Panel

Test Code

Method

Price

3457

Sequencing with CNV PGxome

$990
Mitochondrial Complex III Deficiency Panel (Nuclear Genes)

Test Code

Method

Price

3459

Sequencing with CNV PGxome

$990
Mitochondrial Complex III Deficiency via the CYC1 Gene

Test Code

Method

Price

3502

Sanger Sequencing

$750

8433

Sequencing with CNV PGxome

$990
Mitochondrial Complex III Deficiency via the LYRM7 Gene

Test Code

Method

Price

3396

Sanger Sequencing

$610

10013

Sequencing with CNV PGxome

$990
Mitochondrial Complex III Deficiency via the TTC19 Gene

Test Code

Method

Price

3321

Sanger Sequencing

$870

9903

Sequencing with CNV PGxome

$990
Mitochondrial Complex III Deficiency via the UQCC2 Gene

Test Code

Method

Price

3398

Sanger Sequencing

$580

8901

Sequencing with CNV PGxome

$990
Mitochondrial Complex III Deficiency via the UQCC3 Gene

Test Code

Method

Price

3399

Sanger Sequencing

$440

9197

Sequencing with CNV PGxome

$990
Mitochondrial Complex III Deficiency via the UQCRB Gene

Test Code

Method

Price

3397

Sanger Sequencing

$610

8777

Sequencing with CNV PGxome

$990
Mitochondrial Complex III Deficiency via the UQCRC2 Gene

Test Code

Method

Price

3501

Sanger Sequencing

$970

8147

Sequencing with CNV PGxome

$990
Mitochondrial Complex III Deficiency via the UQCRQ Gene

Test Code

Method

Price

3322

Sanger Sequencing

$440

9199

Sequencing with CNV PGxome

$990
Mitochondrial Complex IV Deficiency Panel (Nuclear Genes)

Test Code

Method

Price

3461

Sequencing with CNV PGxome

$990
Mitochondrial Complex IV Deficiency via the COA3 Gene

Test Code

Method

Price

9201

Sequencing with CNV PGxome

$990

3508

Sanger Sequencing

$440
Mitochondrial Complex IV Deficiency via the COA5 Gene

Test Code

Method

Price

3509

Sanger Sequencing

$540

9017

Sequencing with CNV PGxome

$990
Mitochondrial Complex IV Deficiency via the COA6 Gene

Test Code

Method

Price

3471

Sequencing with CNV PGxome

$990

3510

Sanger Sequencing

$490
Mitochondrial Complex IV Deficiency via the COA8/APOPT1 Gene

Test Code

Method

Price

3505

Sanger Sequencing

$680

8571

Sequencing with CNV PGxome

$990
Mitochondrial Complex IV Deficiency via the COX10 Gene

Test Code

Method

Price

12669

Sequencing with CNV PGxome

$990

3301

Sanger Sequencing

$680
Mitochondrial Complex IV Deficiency via the COX14 Gene

Test Code

Method

Price

9243

Sequencing with CNV PGxome

$990

3504

Sanger Sequencing

$370
Mitochondrial Complex IV Deficiency via the COX15 Gene

Test Code

Method

Price

5233

Sequencing with CNV PGxome

$990
Mitochondrial Complex IV Deficiency via the COX20 Gene

Test Code

Method

Price

3503

Sanger Sequencing

$610

10015

Sequencing with CNV PGxome

$990
Mitochondrial Complex IV Deficiency via the COX6B1 Gene

Test Code

Method

Price

3507

Sanger Sequencing

$540

9019

Sequencing with CNV PGxome

$990
Mitochondrial Complex IV Deficiency via the FASTKD2 Gene

Test Code

Method

Price

5235

Sequencing with CNV PGxome

$990
Mitochondrial Complex IV Deficiency via the SCO1 Gene

Test Code

Method

Price

3506

Sanger Sequencing

$680

8573

Sequencing with CNV PGxome

$990
Mitochondrial Complex IV Deficiency via the SCO2 Gene

Test Code

Method

Price

2824

Sanger Sequencing

$540

9021

Sequencing with CNV PGxome

$990
Mitochondrial Complex V Deficiency Panel (Nuclear Genes)

Test Code

Method

Price

3463

Sequencing with CNV PGxome

$990
Mitochondrial Complex V Deficiency via the ATP5F1A (ATP5A1) Gene

Test Code

Method

Price

3395

Sanger Sequencing

$940

8173

Sequencing with CNV PGxome

$990
Mitochondrial Complex V Deficiency via the ATP5F1E (ATP5E) Gene

Test Code

Method

Price

9203

Sequencing with CNV PGxome

$990

3394

Sanger Sequencing

$440
Mitochondrial Complex V Deficiency via the ATPAF2 Gene

Test Code

Method

Price

3393

Sanger Sequencing

$710

8483

Sequencing with CNV PGxome

$990
Mitochondrial Complex V Deficiency via the TMEM70 Gene

Test Code

Method

Price

3377

Sanger Sequencing

$580

8903

Sequencing with CNV PGxome

$990
Mitochondrial DNA Depletion Syndrome via the FBXL4 Gene

Test Code

Method

Price

2913

Sanger Sequencing

$680

4153

Sequencing with CNV PGxome

$990
Mitochondrial Disorders Panel (Nuclear Genes Only)

Test Code

Method

Price

5077

Sequencing with CNV PGxome

$1490
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Panel

Test Code

Method

Price

10367

Sequencing with CNV PGxome

$990
Mitochondrial Hypomagnesemia via the SARS2 Gene

Test Code

Method

Price

4977

Sequencing with CNV PGxome

$990
Mitochondrial Membrane Protein-Associated Neurodegeneration via the C19orf12 Gene

Test Code

Method

Price

2172

Sanger Sequencing

$490

9131

Sequencing with CNV PGxome

$990
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease via the TYMP Gene

Test Code

Method

Price

11783

Sequencing with CNV PGxome

$990

1242

Sanger Sequencing

$710
Mitochondrial Phosphate Carrier Deficiency via the SLC25A3 Gene

Test Code

Method

Price

1252

Sanger Sequencing

$710

8485

Sequencing with CNV PGxome

$990
Mitochondrial Phosphoenolpyruvate Carboxykinase 2 Deficiency via the PCK2 Gene

Test Code

Method

Price

8247

Sequencing with CNV PGxome

$990

1433

Sanger Sequencing

$870
Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency Panel

Test Code

Method

Price

10635

Sequencing with CNV PGxome

$990
Molybdenum Cofactor Deficiency Type A via the MOCS1 Gene

Test Code

Method

Price

1856

Sanger Sequencing

$1100

8073

Sequencing with CNV PGxome

$990
Molybdenum Cofactor Deficiency Type B via the MOCS2 Gene

Test Code

Method

Price

1857

Sanger Sequencing

$780

8389

Sequencing with CNV PGxome

$990
Molybdenum Cofactor Deficiency via the GPHN Gene

Test Code

Method

Price

1873

Sanger Sequencing

$1470

11883

Sequencing with CNV PGxome

$990
Monogenic Diabetes Panel

Test Code

Method

Price

4303

Sequencing with CNV PGxome

$990
Monogenic Obesity via the MC4R Gene

Test Code

Method

Price

15181

Sequencing with CNV PG-Select

$990
Monogenic Obesity via the SIM1 Gene

Test Code

Method

Price

15199

Sequencing with CNV PG-Select

$990
Mosaic Variegated Aneuploidy Syndrome via the BUB1B Gene

Test Code

Method

Price

11115

Sequencing with CNV PGxome

$990

1290

Sanger Sequencing

$1560
Mosaic Variegated Aneuploidy Syndrome via the CEP57 Gene

Test Code

Method

Price

1707

Sanger Sequencing

$970

8149

Sequencing with CNV PGxome

$990
Mucopolysaccharidosis Type IVA / Morquio Type A Disease via the GALNS Gene

Test Code

Method

Price

455

Sanger Sequencing

$840

8305

Sequencing with CNV PGxome

$990
Mucopolysaccharidosis Type IX via the HYAL1 Gene

Test Code

Method

Price

8781

Sequencing with CNV PGxome

$990

485

Sanger Sequencing

$610
Mucopolysaccharidosis Type VII/Sly Syndrome via the GUSB Gene

Test Code

Method

Price

457

Sanger Sequencing

$780

9941

Sequencing with CNV PGxome

$990
Mucopolysaccharidosis-Plus Syndrome via the VPS33A Gene

Test Code

Method

Price

13325

Sequencing with CNV PGxome

$990
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 via the PIGA Gene

Test Code

Method

Price

5761

Sanger Sequencing

$610
Multiple Endocrine Neoplasia Type 1 via the MEN1 Gene

Test Code

Method

Price

7503

Sequencing with CNV PG-Select

$990
Multiple Endocrine Neoplasia Type 2A (MEN2A), Type 2B (MEN2B), and Familial Medullary Thyroid Carcinoma (FMTC) via the RET Gene

Test Code

Method

Price

4673

Sequencing with CNV PG-Select

$990
Multiple Epiphyseal Dysplasia Panel

Test Code

Method

Price

10247

Sequencing with CNV PGxome

$990
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via the COL9A1 Gene

Test Code

Method

Price

11203

Sequencing with CNV PGxome

$990

805

Sanger Sequencing

$1830
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive, via the COL9A2 Gene

Test Code

Method

Price

11205

Sequencing with CNV PGxome

$990

817

Sanger Sequencing

$1290
Multiple Epiphyseal Dysplasia via the COL9A3 Gene

Test Code

Method

Price

11207

Sequencing with CNV PGxome

$990

818

Sanger Sequencing

$1460
Multiple Epiphyseal Dysplasia via the MATN3 Gene

Test Code

Method

Price

11465

Sequencing with CNV PGxome

$990

816

Sanger Sequencing

$770
Multiple Pterygium Syndrome via the CHRNG Gene

Test Code

Method

Price

11177

Sequencing with CNV PGxome

$990

405

Sanger Sequencing

$750
Myofibrillar Myopathy via the CRYAB Gene

Test Code

Method

Price

9207

Sequencing with CNV PGxome

$990

362

Sanger Sequencing

$440
Myofibrillar Myopathy via the DES Gene

Test Code

Method

Price

8575

Sequencing with CNV PGxome

$990

363

Sanger Sequencing

$680
Myofibrillar Myopathy via the FLNC Gene

Test Code

Method

Price

11337

Sequencing with CNV PGxome

$990

364

Sanger Sequencing

$2370
Myofibrillar Myopathy via the LDB3 (ZASP) Gene

Test Code

Method

Price

11447

Sequencing with CNV PGxome

$990

365

Sanger Sequencing

$940
Myofibrillar Myopathy, Childhood Onset via the BAG3 Gene

Test Code

Method

Price

596

Sanger Sequencing

$680

8577

Sequencing with CNV PGxome

$990
Myopathy with Lactic Acidosis via the ISCU Gene

Test Code

Method

Price

2974

Sanger Sequencing

$610

8783

Sequencing with CNV PGxome

$990
Myopathy, Congenital via the TPM3 Gene

Test Code

Method

Price

8785

Sequencing with CNV PGxome

$990

357

Sanger Sequencing

$610
Myotilinopathy via the MYOT Gene

Test Code

Method

Price

366

Sanger Sequencing

$680

8579

Sequencing with CNV PGxome

$990
Myotonia Congenita via the CLCN1 Gene

Test Code

Method

Price

11179

Sequencing with CNV PGxome

$990

3776

Sanger Sequencing

$1400