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Tests and Panels

CADASIL and CARASIL Panel

Test Code

Method

Price

10073

Sequencing with CNV PGxome

$890
CADASIL1 via the NOTCH3 Gene

Test Code

Method

Price

11525

Sequencing with CNV PGxome

$890

1210

Sanger Sequencing

$1840
CADASIL2 and CARASIL via the HTRA1 Gene

Test Code

Method

Price

11381

Sequencing with CNV PGxome

$890

3727

Sanger Sequencing

$810
CANDLE Syndrome via the PSMB4 Gene

Test Code

Method

Price

13019

Sequencing with CNV PGxome

$890
CANDLE Syndrome via the PSMB8 Gene

Test Code

Method

Price

4421

Sanger Sequencing

$650

8629

Sequencing with CNV PGxome

$890
CHOPS Syndrome via the AFF4 Gene

Test Code

Method

Price

15141

Sequencing with CNV PG-Select

$640
COASY Protein-Associated Neurodegeneration via the COASY Gene

Test Code

Method

Price

5267

Sequencing with CNV PGxome

$890
Cabezas X-Linked Mental Retardation Syndrome via the CUL4B Gene

Test Code

Method

Price

15155

Sequencing with CNV PG-Select

$640
Campomelic Dysplasia and Pierre Robin Sequence via the SOX9 Gene

Test Code

Method

Price

12635

Sequencing with CNV PGxome

$890

2374

Sanger Sequencing

$680
Camurati-Engelmann Disease (CED) via the TGFB1 Gene

Test Code

Method

Price

787

Sanger Sequencing

$690

8507

Sequencing with CNV PGxome

$890
Canavan Disease (Aspartoacylase Deficiency) via the ASPA Gene

Test Code

Method

Price

1559

Sanger Sequencing

$680

9533

Sequencing with CNV PGxome

$890
Cancer Panel

Test Code

Method

Price

5471

Sequencing with CNV PG-Select

$690
Cantu Syndrome via the ABCC9 Gene

Test Code

Method

Price

11051

Sequencing with CNV PGxome

$890

147

Sanger Sequencing

$1590
Carbamoylphosphate Synthetase I Deficiency via the CPS1 Gene

Test Code

Method

Price

554

Sanger Sequencing

$1750

11829

Sequencing with CNV PGxome

$890
Carnitine Palmitoyltransferase 1A Deficiency via the CPT1A Gene

Test Code

Method

Price

1087

Sanger Sequencing

$1100

9297

Sequencing with CNV PGxome

$890
Carnitine Palmitoyltransferase II Deficiency via the CPT2 Gene

Test Code

Method

Price

869

Sanger Sequencing

$680

9563

Sequencing with CNV PGxome

$890
Carnitine-Acylcarnitine Translocase Deficiency via the SLC25A20 Gene

Test Code

Method

Price

2183

Sanger Sequencing

$710

11859

Sequencing with CNV PGxome

$890
Cataract 10, Multiple Types (CTRCT10) via the CRYBA1 Gene

Test Code

Method

Price

11213

Sequencing with CNV PGxome

$890

2902

Sanger Sequencing

$610
Cataract 17, Multiple Types (CTRCT17) via the CRYBB1 Gene

Test Code

Method

Price

2903

Sanger Sequencing

$580

3885

Sequencing with CNV PGxome

$890
Cataract 19 (CTRCT19) via the LIM2 Gene

Test Code

Method

Price

2922

Sanger Sequencing

$540

3921

Sequencing with CNV PGxome

$890
Cataract 22, Multiple Types (CTRCT22) via the CRYBB3 Gene

Test Code

Method

Price

2905

Sanger Sequencing

$610

3889

Sequencing with CNV PGxome

$890
Cataract 23 (CTRCT23) via the CRYBA4 Gene

Test Code

Method

Price

2547

Sanger Sequencing

$580

3883

Sequencing with CNV PGxome

$890
Cataract 3, Multiple Types (CTRCT3) via the CRYBB2 Gene

Test Code

Method

Price

2904

Sanger Sequencing

$610

3887

Sequencing with CNV PGxome

$890
Cataract 9, Multiple Types (CTRCT9) via the CRYAA Gene

Test Code

Method

Price

2901

Sanger Sequencing

$490

3879

Sequencing with CNV PGxome

$890
Cataract Type 11 via the PITX3 Gene

Test Code

Method

Price

2117

Sanger Sequencing

$580

8847

Sequencing with CNV PGxome

$890
Cataract Type 14 via the GJA3 Gene

Test Code

Method

Price

3911

Sequencing with CNV PGxome

$890

2915

Sanger Sequencing

$540
Cataract Type 2 (CTRCT2) via the CRYGC Gene

Test Code

Method

Price

2211

Sanger Sequencing

$490

3891

Sequencing with CNV PGxome

$890
Cataract Type 39 via the CRYGB Gene

Test Code

Method

Price

11215

Sequencing with CNV PGxome

$890
Catecholaminergic Polymorphic Ventricular Tachycardia Panel

Test Code

Method

Price

10249

Sequencing with CNV PGxome

$890
Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome via the CALM1 Gene

Test Code

Method

Price

2133

Sanger Sequencing

$650

3963

Sequencing with CNV PGxome

$890
Catecholaminergic Polymorphic Ventricular Tachycardia via the CASQ2 Gene

Test Code

Method

Price

11139

Sequencing with CNV PGxome

$890

941

Sanger Sequencing

$770
Catecholaminergic Polymorphic Ventricular Tachycardia via the RYR2 Gene

Test Code

Method

Price

11633

Sequencing with CNV PGxome

$890

810

Sanger Sequencing

$3920
Catecholaminergic Polymorphic Ventricular Tachycardia via the TRDN Gene

Test Code

Method

Price

11765

Sequencing with CNV PGxome

$890
Caveolinopathy via the CAV3 Gene

Test Code

Method

Price

467

Sanger Sequencing

$440

9169

Sequencing with CNV PGxome

$890
Centronuclear Myopathy-2, Autosomal Recessive via the BIN1 Gene

Test Code

Method

Price

11109

Sequencing with CNV PGxome

$890

1036

Sanger Sequencing

$1160
Centronuclear Myopathy-3, Autosomal Dominant via the MYF6 Gene

Test Code

Method

Price

924

Sanger Sequencing

$540

8955

Sequencing with CNV PGxome

$890
Centronuclear Myopathy-4, Autosomal Dominant (CNM4) via the CCDC78 Gene

Test Code

Method

Price

11155

Sequencing with CNV PGxome

$890

923

Sanger Sequencing

$750
Cerebral Cavernous Malformations Panel

Test Code

Method

Price

1943

Sequencing with CNV PG-Select

$640
Cerebral Cavernous Malformations via the CCM2 Gene, Exons 2-10 Deletion

Test Code

Method

Price

124

Targeted Deletion

$250
Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene, Exon 10

Test Code

Method

Price

125

Sanger Sequencing

$250
Cerebral Palsy via the GAD1 Gene

Test Code

Method

Price

13045

Sequencing with CNV PGxome

$890
Cerebral Small Vessel Disease Panel

Test Code

Method

Price

12637

Sequencing with CNV PGxome

$890
Cerebroretinal Microangiopathy with Calcifications and Cysts (Coats plus syndrome) via the CTC1 Gene

Test Code

Method

Price

2007

Sanger Sequencing

$1220

8043

Sequencing with CNV PGxome

$890
Char Syndrome via the TFAP2B Gene

Test Code

Method

Price

942

Sanger Sequencing

$710

9957

Sequencing with CNV PGxome

$890
Charcot-Marie-Tooth (CMT) - Axonal Neuropathy Panel

Test Code

Method

Price

10409

Sequencing with CNV PGxome

$890
Charcot-Marie-Tooth (CMT) - Comprehensive Panel

Test Code

Method

Price

10419

Sequencing with CNV PGxome

$890
Charcot-Marie-Tooth (CMT) - Demyelinating Neuropathy Panel

Test Code

Method

Price

10375

Sequencing with CNV PGxome

$890
Charcot-Marie-Tooth 1C via the LITAF Gene

Test Code

Method

Price

2142

Sanger Sequencing

$490

9077

Sequencing with CNV PGxome

$890
Charcot-Marie-Tooth Autosomal Dominant Intermediate C via the YARS1/YARS Gene

Test Code

Method

Price

11817

Sequencing with CNV PGxome

$890
Charcot-Marie-Tooth Autosomal Dominant Intermediate F via the GNB4 Gene

Test Code

Method

Price

11361

Sequencing with CNV PGxome

$890

2174

Sanger Sequencing

$750
Charcot-Marie-Tooth Disease and Distal Motor Neuropathy via the GBF1 Gene

Test Code

Method

Price

15431

Sequencing with CNV PGxome

$890
Charcot-Marie-Tooth Disease via the COX6A1 Gene

Test Code

Method

Price

2136

Sanger Sequencing

$490

9075

Sequencing with CNV PGxome

$890
Charcot-Marie-Tooth Type 2E/1F via the NEFL Gene

Test Code

Method

Price

2143

Sanger Sequencing

$750

8413

Sequencing with CNV PGxome

$890
Charcot-Marie-Tooth Type 2R via the TRIM2 Gene

Test Code

Method

Price

11767

Sequencing with CNV PGxome

$890
Charcot-Marie-Tooth Type 2U via the MARS1/MARS Gene

Test Code

Method

Price

11461

Sequencing with CNV PGxome

$890

2504

Sanger Sequencing

$1130
Charcot-Marie-Tooth Type 4B1 via the MTMR2 Gene

Test Code

Method

Price

11473

Sequencing with CNV PGxome

$890

2772

Sanger Sequencing

$990
Charcot-Marie-Tooth Type 4B2 via the SBF2 Gene

Test Code

Method

Price

11637

Sequencing with CNV PGxome

$890
Charcot-Marie-Tooth Type 4B3 via the SBF1 Gene

Test Code

Method

Price

11635

Sequencing with CNV PGxome

$890

2138

Sanger Sequencing

$1800
Charcot-Marie-Tooth Type 4C via the SH3TC2 Gene

Test Code

Method

Price

11665

Sequencing with CNV PGxome

$890
Charcot-Marie-Tooth Type 4D via the NDRG1 Gene

Test Code

Method

Price

2964

Sanger Sequencing

$990

8119

Sequencing with CNV PGxome

$890
Charcot-Marie-Tooth Type 4J via the FIG4 Gene

Test Code

Method

Price

11335

Sequencing with CNV PGxome

$890

157

Sanger Sequencing

$1320
Charcot-Marie-Tooth Type X-linked Dominant 6 via the PDK3 Gene

Test Code

Method

Price

11565

Sequencing with CNV PGxome

$890

2965

Sanger Sequencing

$870
Charcot-Marie-Tooth disease, axonal, type 20, Spinal muscular atrophy with lower extremity predominance and Mental retardation, autosomal dominant type 13 via the DYNC1H1 Gene

Test Code

Method

Price

11273

Sequencing with CNV PGxome

$890

1038

Sanger Sequencing

$3660
Cherubism via the SH3BP2 Gene

Test Code

Method

Price

1288

Sanger Sequencing

$840

8275

Sequencing with CNV PGxome

$890
Cholestasis Panel

Test Code

Method

Price

10319

Sequencing with CNV PGxome

$990
Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1) via the ARSL/ARSE Gene

Test Code

Method

Price

9935

Sequencing with CNV PGxome

$890

813

Sanger Sequencing

$790
Chondrodysplasia with Joint Dislocations/Catel–Manzke Syndrome via the BPNT2/IMPAD1 Gene

Test Code

Method

Price

2338

Sanger Sequencing

$750

9945

Sequencing with CNV PGxome

$890
Chromosomal Instability Syndromes Panel

Test Code

Method

Price

10251

Sequencing with CNV PGxome

$890
Chronic Granulomatous Disease Panel

Test Code

Method

Price

10153

Sequencing with CNV PGxome

$890
Chronic Granulomatous Disease via the CYBA Gene

Test Code

Method

Price

9987

Sequencing with CNV PGxome

$890

1762

Sanger Sequencing

$650
Chronic Granulomatous Disease via the CYBB Gene

Test Code

Method

Price

11223

Sequencing with CNV PGxome

$890

1651

Sanger Sequencing

$870
Chronic Granulomatous Disease via the NCF2 Gene

Test Code

Method

Price

1715

Sanger Sequencing

$940

8167

Sequencing with CNV PGxome

$890
Chronic Granulomatous Disease via the NCF4 Gene

Test Code

Method

Price

11509

Sequencing with CNV PGxome

$890
Chronic Hereditary Pancreatitis via the CPA1 Gene

Test Code

Method

Price

1442

Sanger Sequencing

$750

8415

Sequencing with CNV PGxome

$890
Chronic Hereditary Pancreatitis via the PRSS1 Gene

Test Code

Method

Price

1285

Sanger Sequencing

$650

8631

Sequencing with CNV PGxome

$990
Chronic Hereditary Pancreatitis via the SPINK1 Gene

Test Code

Method

Price

1401

Sanger Sequencing

$540

8957

Sequencing with CNV PGxome

$890
Chronic Joint Pain and Dysfunction via the MMP13 Gene

Test Code

Method

Price

1792

Sanger Sequencing

$750

8417

Sequencing with CNV PGxome

$890
Chronic Pancreatitis Panel

Test Code

Method

Price

10191

Sequencing with CNV PGxome

$1100
Chronic Pancreatitis via the Chymotrypsin C (CTRC) Gene

Test Code

Method

Price

1402

Sanger Sequencing

$710

8465

Sequencing with CNV PGxome

$890
Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel

Test Code

Method

Price

10507

Sequencing with CNV PGxome

$890
Chronic/Cutaneous Porphyria Panel

Test Code

Method

Price

10219

Sequencing with CNV PGxome

$890
Chudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via the GPSM2 Gene

Test Code

Method

Price

11365

Sequencing with CNV PGxome

$890

1618

Sanger Sequencing

$1020
Ciliopathy Panel

Test Code

Method

Price

10431

Sequencing with CNV PGxome

$1240
Citrullinemia, Type I via ASS1 Gene

Test Code

Method

Price

553

Sanger Sequencing

$840

9535

Sequencing with CNV PGxome

$890
Cleft Lip with or without Cleft Palate via the ARHGAP29 Gene

Test Code

Method

Price

12641

Sequencing with CNV PGxome

$890
Cleft Lip/Cleft Palate Panel

Test Code

Method

Price

10657

Sequencing with CNV PGxome

$1240
Cleidocranial Dysplasia (CCD) via the RUNX2 Gene

Test Code

Method

Price

8267

Sequencing with CNV PGxome

$890

786

Sanger Sequencing

$860
Coagulation Factor Deficiency Panel

Test Code

Method

Price

10351

Sequencing with CNV PGxome

$890
Cockayne Syndrome via the ERCC6 Gene

Test Code

Method

Price

11297

Sequencing with CNV PGxome

$890

1008

Sanger Sequencing

$1310
Cockayne Syndrome via the ERCC8 Gene

Test Code

Method

Price

11299

Sequencing with CNV PGxome

$890

1009

Sanger Sequencing

$840
Coenzyme Q10 Ubiquinone Deficiency Panel

Test Code

Method

Price

10297

Sequencing with CNV PGxome

$890
Coffin-Siris Syndrome Panel

Test Code

Method

Price

10221

Sequencing with CNV PGxome

$890
Cohen Syndrome via the VPS13B (COH1) Gene

Test Code

Method

Price

15211

Sequencing with CNV PG-Select

$640
Colobomatous Microphthalmia and Skeletal Dysplasia Syndrome via the MAB21L2 Gene

Test Code

Method

Price

5711

Sanger Sequencing

$490

10633

Sequencing with CNV PGxome

$890
Colorectal Cancer Panel

Test Code

Method

Price

5467

Sequencing with CNV PG-Select

$540
Colorectal Cancer Predisposition via the POLD1 Gene

Test Code

Method

Price

7509

Sequencing with CNV PG-Select

$540
Colorectal Cancer Predisposition via the POLE Gene

Test Code

Method

Price

7511

Sequencing with CNV PG-Select

$540
Combined Factor V and Factor VIII Deficiency via the LMAN1 Gene

Test Code

Method

Price

11449

Sequencing with CNV PGxome

$890

2015

Sanger Sequencing

$990
Combined Factor V and Factor VIII Deficiency via the MCFD2 Gene

Test Code

Method

Price

2924

Sanger Sequencing

$540

4185

Sequencing with CNV PGxome

$890
Combined Malonic and Methylmalonic Aciduria (CMAMMA) via the ACSF3 Gene

Test Code

Method

Price

314

Sanger Sequencing

$810

8327

Sequencing with CNV PGxome

$890
Combined Pituitary Hormone Deficiency (CPHD) Panel

Test Code

Method

Price

5287

Sequencing with CNV PGxome

$890
Combined Pituitary Hormone Deficiency-2 (CPHD2) via the PROP1 Gene

Test Code

Method

Price

1226

Sanger Sequencing

$490

9079

Sequencing with CNV PGxome

$890
Combined Pituitary Hormone Deficiency-4 (CPHD-4) via the LHX4 Gene

Test Code

Method

Price

629

Sanger Sequencing

$610

8729

Sequencing with CNV PGxome

$890
Common Hereditary Cancer Screening Panel

Test Code

Method

Price

15723

Sequencing with CNV PG-Select

$590
Common Variable Immune Deficiency (CVID) Panel

Test Code

Method

Price

2693

Sequencing with CNV PGxome

$890
Common Variable Immune Deficiency/IgA Deficiency via the TNFRSF13B Gene

Test Code

Method

Price

1692

Sanger Sequencing

$610

8731

Sequencing with CNV PGxome

$890
Complex Hereditary Spastic Paraplegia Panel

Test Code

Method

Price

2677

Sequencing with CNV PGxome

$1100
Comprehensive Brain Malformation Panel

Test Code

Method

Price

12619

Sequencing with CNV PGxome

$1490
Comprehensive Cardiac Arrhythmia Panel

Test Code

Method

Price

10423

Sequencing with CNV PGxome

$990
Comprehensive Cardiology Panel

Test Code

Method

Price

2663

Sequencing with CNV PGxome

$1310
Comprehensive Cataracts Panel

Test Code

Method

Price

12001

Sequencing with CNV PGxome

$1240
Comprehensive Congenital Heart Disease Panel

Test Code

Method

Price

13008

Sequencing with CNV PGxome

$1490
Comprehensive Epilepsy and Seizure Panel

Test Code

Method

Price

16005

Sequencing with CNV PGxome

$1540
Comprehensive Inherited Kidney Diseases Panel

Test Code

Method

Price

13990

Sequencing with CNV PGxome

$1490
Comprehensive Inherited Metabolic Disorders and Mitochondrial Disorders (Nuclear Genes only) Panel

Test Code

Method

Price

16006

Sequencing with CNV PGxome

$1540
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Panel

Test Code

Method

Price

4379

Sequencing with CNV PGxome

$1740
Comprehensive Monogenic Obesity Panel

Test Code

Method

Price

15185

Sequencing with CNV PG-Select

$790
Comprehensive Movement Disorders Panel

Test Code

Method

Price

16004

Sequencing with CNV PGxome

$1490
Comprehensive Neuromuscular Panel

Test Code

Method

Price

10433

Sequencing with CNV PGxome

$1310
Comprehensive Neuropathy Panel

Test Code

Method

Price

10427

Sequencing with CNV PGxome

$990
Comprehensive Ocular Disorders Panel

Test Code

Method

Price

12005

Sequencing with CNV PGxome

$1190
Comprehensive Vitreoretinopathy Panel

Test Code

Method

Price

7941

Sequencing with CNV PGxome

$890
Compton-North Congenital Myopathy via the CNTN1 Gene

Test Code

Method

Price

11183

Sequencing with CNV PGxome

$890

919

Sanger Sequencing

$1280
Cone-Rod Dystrophy (CORDX3) via the CACNA1F Gene

Test Code

Method

Price

11125

Sequencing with CNV PGxome

$890

1496

Sanger Sequencing

$2050
Cone-Rod Dystrophy (CRD11) via the RAX2 (Qrx) Gene

Test Code

Method

Price

1607

Sanger Sequencing

$540

8959

Sequencing with CNV PGxome

$890
Cone-Rod Dystrophy 20 via the POC1B Gene

Test Code

Method

Price

10637

Sequencing with CNV PGxome

$890
Cone-Rod Dystrophy Panel

Test Code

Method

Price

10403

Sequencing with CNV PGxome

$890
Cone-Rod Dystrophy and Retinitis Pigmentosa via the CFAP418/C8orf37 Gene

Test Code

Method

Price

15151

Sequencing with CNV PG-Select

$640
Cone-Rod Dystrophy via the ADAM9 Gene

Test Code

Method

Price

11069

Sequencing with CNV PGxome

$890
Cone-Rod Dystrophy via the CABP4 Gene

Test Code

Method

Price

1501

Sanger Sequencing

$610

4109

Sequencing with CNV PGxome

$890
Cone-Rod Dystrophy via the CACNA2D4 Gene

Test Code

Method

Price

11129

Sequencing with CNV PGxome

$890

2239

Sanger Sequencing

$1870
Cone-Rod Dystrophy via the CDHR1 Gene

Test Code

Method

Price

11165

Sequencing with CNV PGxome

$890

826

Sanger Sequencing

$1100
Cone-Rod Dystrophy via the CNNM4 Gene

Test Code

Method

Price

4127

Sequencing with CNV PGxome

$890

2247

Sanger Sequencing

$780
Cone-Rod Dystrophy via the DRAM2 Gene

Test Code

Method

Price

4446

Sanger Sequencing

$610

10443

Sequencing with CNV PGxome

$890
Cone-Rod Dystrophy via the KCNV2 Gene

Test Code

Method

Price

2106

Sanger Sequencing

$580

8849

Sequencing with CNV PGxome

$890
Cone-Rod Dystrophy via the PITPNM3 Gene

Test Code

Method

Price

11589

Sequencing with CNV PGxome

$890
Cone-Rod Dystrophy via the UNC119 Gene

Test Code

Method

Price

2226

Sanger Sequencing

$610

4283

Sequencing with CNV PGxome

$890
Congenital Abnormalities of Kidney and Urinary Tract (CAKUT) and VACTERL Association via the TRAP1 Gene

Test Code

Method

Price

1632

Sanger Sequencing

$1100

8067

Sequencing with CNV PGxome

$890
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel

Test Code

Method

Price

2667

Sequencing with CNV PGxome

$990
Congenital Adrenal Hyperplasia (CAH) Panel

Test Code

Method

Price

12053

Sequencing with CNV PGxome

$1940
Congenital Adrenal Hyperplasia (CAH) due to 11-β-Hydroxylase Deficiency (11-OHD) via the CYP11B1 Gene

Test Code

Method

Price

1268

Sanger Sequencing

$870
Congenital Adrenal Hyperplasia (CAH) via the CYP21A2 Gene

Test Code

Method

Price

1419

Sanger Sequencing

$970
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via the DSTYK Gene

Test Code

Method

Price

495

Sanger Sequencing

$1020

9879

Sequencing with CNV PGxome

$890
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via the FGF20 Gene

Test Code

Method

Price

1686

Sanger Sequencing

$540

8961

Sequencing with CNV PGxome

$890
Congenital Anomalies of the Gastrointestinal Tract Panel

Test Code

Method

Price

13377

Sequencing with CNV PGxome

$1350
Congenital Bile Acid Synthesis Defect Type 1 via the HSD3B7 Gene

Test Code

Method

Price

15249

Sequencing with CNV PG-Select

$640
Congenital Bile Acid Synthesis Defect Type 2 via the AKR1D1 Gene

Test Code

Method

Price

15223

Sequencing with CNV PG-Select

$640
Congenital Bile Acid Synthesis Defect-5 via the ABCD3 Gene

Test Code

Method

Price

11053

Sequencing with CNV PGxome

$890

2892

Sanger Sequencing

$1590
Congenital Cataract, Microcornea, and Corneal Opacity (CCMCO) via the PXDN Gene

Test Code

Method

Price

2935

Sanger Sequencing

$1440

3933

Sequencing with CNV PGxome

$890
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) Syndrome via the CTDP1 Gene

Test Code

Method

Price

11217

Sequencing with CNV PGxome

$890

1737

Sanger Sequencing

$1220
Congenital Cataracts Panel

Test Code

Method

Price

10413

Sequencing with CNV PGxome

$890
Congenital Cataracts and Ayme-Gripp Syndrome via the MAF Gene

Test Code

Method

Price

603

Sanger Sequencing

$650

3925

Sequencing with CNV PGxome

$890
Congenital Cataracts via the BFSP1 Gene

Test Code

Method

Price

11107

Sequencing with CNV PGxome

$890

2267

Sanger Sequencing

$780
Congenital Cataracts via the CHMP4B Gene

Test Code

Method

Price

2898

Sanger Sequencing

$580

3877

Sequencing with CNV PGxome

$890
Congenital Central Hypoventilation Syndrome (CCHS) Panel

Test Code

Method

Price

10239

Sequencing with CNV PGxome

$990
Congenital Central Hypoventilation Syndrome (CCHS) via the ASCL1 Gene

Test Code

Method

Price

777

Sanger Sequencing

$540

8963

Sequencing with CNV PGxome

$890
Congenital Central Hypoventilation Syndrome (CCHS) via the BDNF Gene

Test Code

Method

Price

15149

Sequencing with CNV PG-Select

$640
Congenital Central Hypoventilation Syndrome (CCHS) via the BMP2 Gene

Test Code

Method

Price

2161

Sanger Sequencing

$610

8733

Sequencing with CNV PGxome

$890
Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2A Gene

Test Code

Method

Price

1834

Sanger Sequencing

$540

8965

Sequencing with CNV PGxome

$890
Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2B Gene

Test Code

Method

Price

8967

Sequencing with CNV PG-Select

$540
Congenital Contractural Arachnodactyly (Beals Syndrome) via the FBN2 Gene

Test Code

Method

Price

3151

Sequencing with CNV PG-Select

$640
Congenital Diaphragmatic Hernia Panel

Test Code

Method

Price

13359

Sequencing with CNV PGxome

$990
Congenital Diarrhea and Enteropathies Panel

Test Code

Method

Price

12647

Sequencing with CNV PGxome

$1290
Congenital Disorder of Glycosylation, Type Iu and Secondary Dystroglycanopathy via the DPM2 Gene

Test Code

Method

Price

2269

Sanger Sequencing

$490

9083

Sequencing with CNV PGxome

$890
Congenital Disorders of Glycosylation (CDG) Panel

Test Code

Method

Price

10625

Sequencing with CNV PGxome

$990
Congenital Disorders of Glycosylation (CDG) Panel (Types Ia, Ib, and Ic)

Test Code

Method

Price

10601

Sequencing with CNV PGxome

$890
Congenital Disorders of Glycosylation (CDG) Panel (Types Id, Ie, If, Ig, Ih, Ii)

Test Code

Method

Price

10603

Sequencing with CNV PGxome

$890
Congenital Disorders of Glycosylation, Type IIj via the COG4 Gene

Test Code

Method

Price

1453

Sanger Sequencing

$1100

8069

Sequencing with CNV PGxome

$890
Congenital Disorders of Glycosylation, Type Id (CDG Id) via the ALG3 Gene

Test Code

Method

Price

539

Sanger Sequencing

$680

8533

Sequencing with CNV PGxome

$890
Congenital Disorders of Glycosylation, Type Ie (CDG Ie) via the DPM1 Gene

Test Code

Method

Price

535

Sanger Sequencing

$650

8633

Sequencing with CNV PGxome

$890
Congenital Disorders of Glycosylation, Type If (CDG If) via the MPDU1 Gene

Test Code

Method

Price

538

Sanger Sequencing

$610

8735

Sequencing with CNV PGxome

$890
Congenital Disorders of Glycosylation, Type Ig (CDG Ig) via the ALG12 Gene

Test Code

Method

Price

534

Sanger Sequencing

$680

8535

Sequencing with CNV PGxome

$890
Congenital Disorders of Glycosylation, Type Ih (CDG Ih) via the ALG8 Gene

Test Code

Method

Price

9923

Sequencing with CNV PGxome

$890

537

Sanger Sequencing

$810
Congenital Disorders of Glycosylation, Type Ii (CDG Ii) via the ALG2 Gene

Test Code

Method

Price

536

Sanger Sequencing

$540

8969

Sequencing with CNV PGxome

$890
Congenital Disorders of Glycosylation, Type Io Plus Secondary Dystroglycanopathy via the DPM3 Gene

Test Code

Method

Price

543

Sanger Sequencing

$490

9085

Sequencing with CNV PGxome

$890
Congenital Dyserythropoietic Anemia Panel

Test Code

Method

Price

10193

Sequencing with CNV PGxome

$890
Congenital Dyserythropoietic Anemia Type I via the CDAN1 Gene

Test Code

Method

Price

11161

Sequencing with CNV PGxome

$890

1841

Sanger Sequencing

$1530
Congenital Dyserythropoietic Anemia Type I via the CDIN1/C15orf41 Gene

Test Code

Method

Price

11119

Sequencing with CNV PGxome

$890

2145

Sanger Sequencing

$810
Congenital Dyserythropoietic Anemia Type II via the SEC23B Gene

Test Code

Method

Price

11653

Sequencing with CNV PGxome

$890

1770

Sanger Sequencing

$1310
Congenital Dyserythropoietic Anemia Type IV via the KLF1 Gene

Test Code

Method

Price

11429

Sequencing with CNV PGxome

$890
Congenital Erythropoietic Porphyria via the UROS Gene

Test Code

Method

Price

11789

Sequencing with CNV PGxome

$890

2037

Sanger Sequencing

$750
Congenital Factor XIII Deficiency via the F13B Gene

Test Code

Method

Price

2912

Sanger Sequencing

$970

4147

Sequencing with CNV PGxome

$890
Congenital Factor XIII deficiency via the F13A1 Gene

Test Code

Method

Price

11315

Sequencing with CNV PGxome

$890

2911

Sanger Sequencing

$970
Congenital Fibrinogen Deficiency Panel

Test Code

Method

Price

10119

Sequencing with CNV PGxome

$890
Congenital Fibrinogen Deficiency via the FGA Gene

Test Code

Method

Price

1404

Sanger Sequencing

$810

8329

Sequencing with CNV PGxome

$890
Congenital Fibrinogen Deficiency via the FGB Gene

Test Code

Method

Price

11327

Sequencing with CNV PGxome

$890

2075

Sanger Sequencing

$810
Congenital Fibrinogen Deficiency via the FGG Gene

Test Code

Method

Price

11333

Sequencing with CNV PGxome

$890

1893

Sanger Sequencing

$780
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Type 3A via the TUBB3 Gene

Test Code

Method

Price

2019

Sanger Sequencing

$540

8971

Sequencing with CNV PGxome

$890
Congenital Generalized Lipodystrophy (CGL) Panel

Test Code

Method

Price

10157

Sequencing with CNV PGxome

$890
Congenital Generalized Lipodystrophy (CGL) via the AGPAT2 Gene

Test Code

Method

Price

462

Sanger Sequencing

$640

8709

Sequencing with CNV PGxome

$890
Congenital Generalized Lipodystrophy (CGL) via the CAVIN1 (PTRF) Gene

Test Code

Method

Price

11141

Sequencing with CNV PGxome

$890

4425

Sanger Sequencing

$540
Congenital Hyperinsulinism Panel

Test Code

Method

Price

10265

Sequencing with CNV PGxome

$890
Congenital Hypothyroidism (Central Hypothyroidism and Testicular Enlargement) via the IGSF1 Gene

Test Code

Method

Price

11389

Sequencing with CNV PGxome

$890

1510

Sanger Sequencing

$1130
Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene

Test Code

Method

Price

1583

Sanger Sequencing

$680

8537

Sequencing with CNV PGxome

$890
Congenital Hypothyroidism (Thyroid Dysgenesis) via the PAX8 Gene

Test Code

Method

Price

11555

Sequencing with CNV PGxome

$890

1581

Sanger Sequencing

$870
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOX2 Gene

Test Code

Method

Price

11271

Sequencing with CNV PGxome

$1070

1646

Sanger Sequencing

$1500
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOXA2 Gene

Test Code

Method

Price

1644

Sanger Sequencing

$610

8737

Sequencing with CNV PGxome

$890
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the IYD/DEHAL1 Gene

Test Code

Method

Price

1645

Sanger Sequencing

$650

8635

Sequencing with CNV PGxome

$890
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the SLC5A5/NIS Gene

Test Code

Method

Price

11687

Sequencing with CNV PGxome

$890

1641

Sanger Sequencing

$1130
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TG Gene

Test Code

Method

Price

11741

Sequencing with CNV PGxome

$890

1642

Sanger Sequencing

$2520
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TPO Gene

Test Code

Method

Price

11761

Sequencing with CNV PGxome

$890

1643

Sanger Sequencing

$1100
Congenital Hypothyroidism (Thyroid Hormone Resistance) via the THRA Gene

Test Code

Method

Price

11743

Sequencing with CNV PGxome

$890

1585

Sanger Sequencing

$780
Congenital Hypothyroidism (Thyroid Stimulating Hormone Deficiency) via the TSHB Gene

Test Code

Method

Price

1587

Sanger Sequencing

$440

9173

Sequencing with CNV PGxome

$890
Congenital Hypothyroidism (Thyrotropin-Releasing Hormone Deficiency) via the TRH Gene

Test Code

Method

Price

1588

Sanger Sequencing

$540

4277

Sequencing with CNV PGxome

$890
Congenital Hypothyroidism and Neonatal Diabetes Mellitus via the GLIS3 Gene

Test Code

Method

Price

11357

Sequencing with CNV PGxome

$890

1586

Sanger Sequencing

$1060
Congenital Hypothyroidism and Thyroid Hormone Resistance Panel

Test Code

Method

Price

1989

Sequencing with CNV PGxome

$890
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies (CHEDDA) via the ATN1 Gene

Test Code

Method

Price

13017

Sequencing with CNV PGxome

$890
Congenital Ichthyosis and Related Disorders Panel

Test Code

Method

Price

4929

Sequencing with CNV PGxome

$890
Congenital Interstitial Lung Disease with Nephrotic Syndrome and Epidermolysis Bullosa (ILNEB) via the ITGA3 Gene

Test Code

Method

Price

11399

Sequencing with CNV PGxome

$890

1683

Sanger Sequencing

$1280
Congenital Limb Malformation Panel

Test Code

Method

Price

5065

Sequencing with CNV PGxome

$1030
Congenital Methemoglobinemia via the CYB5R3 Gene

Test Code

Method

Price

9947

Sequencing with CNV PGxome

$890

1714

Sanger Sequencing

$750
Congenital Muscular Dystrophy (CMD) Panel

Test Code

Method

Price

10379

Sequencing with CNV PGxome

$890
Congenital Muscular Dystrophy, Megaconial Type via the CHKB Gene

Test Code

Method

Price

11171

Sequencing with CNV PGxome

$890

912

Sanger Sequencing

$710
Congenital Myasthenic Syndrome 21 via the SLC18A3 Gene

Test Code

Method

Price

5229

Sequencing with CNV PGxome

$890

5935

Sanger Sequencing

$580
Congenital Myasthenic Syndrome 24 via the MYO9A Gene

Test Code

Method

Price

13333

Sequencing with CNV PGxome

$890
Congenital Myasthenic Syndrome Panel

Test Code

Method

Price

10321

Sequencing with CNV PGxome

$890
Congenital Myasthenic Syndrome via the MUSK Gene

Test Code

Method

Price

11477

Sequencing with CNV PGxome

$890

406

Sanger Sequencing

$930
Congenital Myasthenic Syndrome via the SYT2 Gene

Test Code

Method

Price

4419

Sanger Sequencing

$780

8373

Sequencing with CNV PGxome

$890
Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome via the CHRNA1 Gene

Test Code

Method

Price

401

Sanger Sequencing

$680

8539

Sequencing with CNV PGxome

$890
Congenital Myasthenic Syndromes and Multiple Pterygium Syndrome via the CHRND Gene

Test Code

Method

Price

11175

Sequencing with CNV PGxome

$890

403

Sanger Sequencing

$770
Congenital Myasthenic Syndromes via the CHRNB1 Gene

Test Code

Method

Price

11173

Sequencing with CNV PGxome

$890

402

Sanger Sequencing

$710
Congenital Myopathy (Native American Myopathy) via the STAC3 Gene

Test Code

Method

Price

11717

Sequencing with CNV PGxome

$890

2112

Sanger Sequencing

$780
Congenital Myopathy Panel

Test Code

Method

Price

10389

Sequencing with CNV PGxome

$930
Congenital Myopathy via the HACD1 Gene

Test Code

Method

Price

15421

Sequencing with CNV PGxome

$890
Congenital Myopathy via the MYO18B Gene

Test Code

Method

Price

7229

Sequencing with CNV PGxome

$890
Congenital Myopathy with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facies via the MYOD1 Gene

Test Code

Method

Price

13307

Sequencing with CNV PGxome

$890
Congenital Stationary Night Blindness Panel

Test Code

Method

Price

4319

Sequencing with CNV PGxome

$890
Congenital Stationary Night Blindness and Retinal Degeneration via the SLC24A1 Gene

Test Code

Method

Price

11671

Sequencing with CNV PGxome

$890

1503

Sanger Sequencing

$990
Congenital Stationary Night Blindness via the LRIT3 Gene

Test Code

Method

Price

2434

Sanger Sequencing

$710

8467

Sequencing with CNV PGxome

$890
Connective Tissue Disorders Panel

Test Code

Method

Price

7947

Sequencing with CNV PGxome

$1310
Conradi-Hunermann syndrome via the EBP Gene

Test Code

Method

Price

8935

Sequencing with CNV PGxome

$890

781

Sanger Sequencing

$560
Corneal Dystrophies Panel

Test Code

Method

Price

3029

Sequencing with CNV PGxome

$890
Cornelia de Lange Syndrome (CdLS) Panel

Test Code

Method

Price

10253

Sequencing with CNV PGxome

$890
Cornelia de Lange Syndrome (CdLS) and Cornelia de Lange Syndrome-Related Disorders Panel

Test Code

Method

Price

10399

Sequencing with CNV PGxome

$890
Cornelia de Lange Syndrome and Wiedemann-Steiner Syndrome via the KMT2A Gene

Test Code

Method

Price

11437

Sequencing with CNV PGxome

$890

2591

Sanger Sequencing

$2670
Cornelia de Lange Syndrome via the HDAC8 Gene

Test Code

Method

Price

15245

Sequencing with CNV PG-Select

$640
Cornelia de Lange Syndrome via the NIPBL Gene

Test Code

Method

Price

11515

Sequencing with CNV PGxome

$890

891

Sanger Sequencing

$2270
Cornelia de Lange Syndrome via the RAD21 Gene

Test Code

Method

Price

11611

Sequencing with CNV PGxome

$890

894

Sanger Sequencing

$1090
Cornelia de Lange Syndrome via the SMC3 Gene

Test Code

Method

Price

11699

Sequencing with CNV PGxome

$890

893

Sanger Sequencing

$1530
Cortical Dysplasia, Complex, with Other Brain Malformations 3 via the KIF2A Gene

Test Code

Method

Price

4257

Sequencing with CNV PGxome

$890
Cortical Dysplasia, Complex, with Other Brain Malformations 4 via the TUBG1 Gene

Test Code

Method

Price

5898

Sanger Sequencing

$750
Cowden and Cowden-like Syndromes via the PIK3CA Gene

Test Code

Method

Price

1699

Sanger Sequencing

$1100

9863

Sequencing with CNV PGxome

$890
Cranioectodermal Dysplasia 1 (CED1) via the IFT122 Gene

Test Code

Method

Price

11385

Sequencing with CNV PGxome

$890

623

Sanger Sequencing

$1430
Cranioectodermal Dysplasia 2 (CED2) / Short-Rib Polydactyly Syndromes Type 5 (SRP5) via the WDR35 Gene

Test Code

Method

Price

11803

Sequencing with CNV PGxome

$890

292

Sanger Sequencing

$1360
Craniofrontonasal Syndrome via the EFNB1 Gene

Test Code

Method

Price

2297

Sanger Sequencing

$580

8851

Sequencing with CNV PGxome

$890
Craniosynostosis and Dental Anomalies, Autosomal Recessive Crouzon-like Craniosynostosis via the IL11RA Gene

Test Code

Method

Price

8237

Sequencing with CNV PGxome

$890

2956

Sanger Sequencing

$870
Craniosynostosis and Related Disorders Panel

Test Code

Method

Price

10197

Sequencing with CNV PGxome

$890
Craniosynostosis via the MSX2 Gene

Test Code

Method

Price

959

Sanger Sequencing

$490

9087

Sequencing with CNV PGxome

$890
Craniosynostosis via the TCF12 Gene

Test Code

Method

Price

11735

Sequencing with CNV PGxome

$890

2514

Sanger Sequencing

$1280
Creatine Deficiency Syndrome via the GAMT Gene

Test Code

Method

Price

242

Sanger Sequencing

$610

9615

Sequencing with CNV PGxome

$890
Creatine Deficiency Syndrome via the GATM Gene

Test Code

Method

Price

241

Sanger Sequencing

$690

11881

Sequencing with CNV PGxome

$890
Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene

Test Code

Method

Price

11519

Sequencing with CNV PGxome

$890

1638

Sanger Sequencing

$1060
Currarino Syndrome via the MNX1 Gene

Test Code

Method

Price

2736

Sanger Sequencing

$650

9829

Sequencing with CNV PGxome

$890
Cutis Laxa via the LTBP4 Gene

Test Code

Method

Price

2101

Sanger Sequencing

$1440

8015

Sequencing with CNV PGxome

$890
Cystathioninuria via the CTH Gene

Test Code

Method

Price

8331

Sequencing with CNV PGxome

$890

879

Sanger Sequencing

$810
Cystic Fibrosis and CF-Related Disorders via the CFTR Gene

Test Code

Method

Price

3035

Sequencing with CNV PG-Select

$640
Cystinosis via the CTNS Gene

Test Code

Method

Price

1561

Sanger Sequencing

$810

9565

Sequencing with CNV PGxome

$890
Cystinosis via the CTNS Gene, 57-kb Deletion

Test Code

Method

Price

1636

Targeted Deletion

$250
Cystinuria Panel

Test Code

Method

Price

10075

Sequencing with CNV PGxome

$890
Cystinuria via the SLC3A1 Gene

Test Code

Method

Price

11677

Sequencing with CNV PGxome

$890

1862

Sanger Sequencing

$780
Cystinuria via the SLC7A9 Gene

Test Code

Method

Price

11691

Sequencing with CNV PGxome

$890

1863

Sanger Sequencing

$810
Cytosolic Phosphoenolpyruvate Carboxykinase 1 Deficiency via the PCK1 Gene

Test Code

Method

Price

1432

Sanger Sequencing

$840

11849

Sequencing with CNV PGxome

$890