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Tests and Panels

Early Infantile Epilepsies and Autism via the SCN2A Gene

Test Code

Method

Price

4227

Sequencing with CNV PG-Select

$990
Early Infantile Epileptic Encephalopathy 24 via the HCN1 Gene

Test Code

Method

Price

8199

Sequencing with CNV PG-Select

$990
Early Infantile Epileptic Encephalopathy Panel

Test Code

Method

Price

10429

Sequencing with CNV PGxome

$1290
Early Infantile Epileptic Encephalopathy and Benign Familial Neonatal Seizures via the KCNQ2 Gene

Test Code

Method

Price

4695

Sequencing with CNV PG-Select

$990
Early Infantile Epileptic Encephalopathy and Intellectual Disability via the SPTAN1 Gene

Test Code

Method

Price

4249

Sequencing with CNV PG-Select

$990
Early Infantile Epileptic Encephalopathy and Rett-like Syndrome via the CDKL5 Gene

Test Code

Method

Price

4121

Sequencing with CNV PG-Select

$990
Early Infantile Epileptic Encephalopathy or Kohlschütter-Tönz Syndrome via the SLC13A5 Gene

Test Code

Method

Price

8283

Sequencing with CNV PG-Select

$990
Early Infantile Epileptic Encephalopathy via the KCNA2 Gene

Test Code

Method

Price

8859

Sequencing with CNV PG-Select

$990
Early Infantile Epileptic Encephalopathy via the SCN8A Gene

Test Code

Method

Price

4229

Sequencing with CNV PG-Select

$990
Early Infantile Epileptic Encephalopathy via the SLC25A22 Gene

Test Code

Method

Price

4241

Sequencing with CNV PG-Select

$990
Early Infantile Epileptic Encephalopathy via the SZT2 Gene

Test Code

Method

Price

4259

Sequencing with CNV PG-Select

$990
Early Infantile Epileptic Encephalopathy-12 via the PLCB1 Gene

Test Code

Method

Price

4215

Sequencing with CNV PG-Select

$990
Early Infantile Epileptic Encephalopathy-15 and Intellectual Disability via the ST3GAL3 Gene

Test Code

Method

Price

4253

Sequencing with CNV PG-Select

$990
Early-Onset Ataxia with Oculomotor Apraxia Type 1 via the APTX Gene

Test Code

Method

Price

11091

Sequencing with CNV PGxome

$990

1732

Sanger Sequencing

$750
Early-Onset High Myopia Panel

Test Code

Method

Price

15487

Sequencing with CNV PGxome

$1290
Early-Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia (EMARDD) via the MEGF10 Gene

Test Code

Method

Price

11467

Sequencing with CNV PGxome

$990

922

Sanger Sequencing

$1210
Ectodermal Dysplasia Panel

Test Code

Method

Price

10223

Sequencing with CNV PGxome

$990
Ectodermal Dysplasia via the EDA Gene

Test Code

Method

Price

7631

Sequencing with CNV PG-Select

$990
Ectodermal Dysplasia via the EDAR Gene

Test Code

Method

Price

7033

Sequencing with CNV PG-Select

$990
Ectodermal Dysplasia via the EDARADD Gene

Test Code

Method

Price

618

Sanger Sequencing

$650

8647

Sequencing with CNV PGxome

$990
Ectodermal Dysplasia via the KRT85 Gene

Test Code

Method

Price

11439

Sequencing with CNV PGxome

$990

985

Sanger Sequencing

$780
Ectodermal Dysplasia via the NECTIN1 Gene

Test Code

Method

Price

3383

Sanger Sequencing

$750

8421

Sequencing with CNV PGxome

$990
Ectodermal Dysplasia via the WNT10A Gene

Test Code

Method

Price

8861

Sequencing with CNV PGxome

$990

2293

Sanger Sequencing

$580
Ectodermal Dysplasia/Short Stature Syndrome and Deafness, Autosomal Dominant 28 (DFNA28) via the GRHL2 Gene

Test Code

Method

Price

11367

Sequencing with CNV PGxome

$990
Ectodermal Dysplasia/Skin Fragility Syndrome via the PKP1 Gene

Test Code

Method

Price

968

Sanger Sequencing

$840

8285

Sequencing with CNV PGxome

$990
Ectodermal Dysplasia/Tooth Agenesis via the MSX1 Gene

Test Code

Method

Price

2732

Sanger Sequencing

$580

8863

Sequencing with CNV PGxome

$990
Ehlers-Danlos Syndrome with Progressive Kyphosis, Myopathy, and Hearing Loss (EDSKMH) via the FKBP14 Gene

Test Code

Method

Price

8865

Sequencing with CNV PG-Select

$990
Ehlers-Danlos Syndrome, Classic Type via the COL5A1 Gene

Test Code

Method

Price

3217

Sequencing with CNV PG-Select

$990
Ehlers-Danlos Syndrome, Classic Type via the COL5A2 Gene

Test Code

Method

Price

3167

Sequencing with CNV PG-Select

$990
Ehlers-Danlos Syndrome, Kyphoscoliotic Form via the PLOD1 Gene

Test Code

Method

Price

4815

Sequencing with CNV PG-Select

$990
Ehlers-Danlos Syndrome, Type IV via the COL3A1 Gene

Test Code

Method

Price

3095

Sequencing with CNV PG-Select

$990
Ehlers-Danlos Syndromes (EDS) Panel

Test Code

Method

Price

10383

Sequencing with CNV PGxome

$1290
Ehlers-Danlos syndrome Musculocontractural Type 1 via the CHST14 Gene

Test Code

Method

Price

12055

Sequencing with CNV PGxome

$990

2507

Sanger Sequencing

$490
Elevated Arginine/Argininemia via the ARG1 Gene

Test Code

Method

Price

552

Sanger Sequencing

$710

11825

Sequencing with CNV PGxome

$990
Elevated C5-DC Acylcarnitine via the GCDH Gene

Test Code

Method

Price

16037

Sequencing with CNV PGxome

$990
Elevated Levels of C0/(C16+C18) Acylcarnitine via the CPT1A Gene

Test Code

Method

Price

16041

Sequencing with CNV PGxome

$990
Elevated Levels of C14 and C14:1 Acylcarnitine via the ACADVL Gene

Test Code

Method

Price

16043

Sequencing with CNV PGxome

$990
Elevated Levels of C5-hydroxyacylcarnitine (C5-OH) Panel

Test Code

Method

Price

4999

Sequencing with CNV PGxome

$990
Elevated Levels of C6, C8 and C10 Acylcarnitine via the ACADM Gene

Test Code

Method

Price

16045

Sequencing with CNV PGxome

$990
Elevated Tyrosine and Succinylacetone/Tyrosinemia Type I via the FAH Gene

Test Code

Method

Price

541

Sanger Sequencing

$580

9591

Sequencing with CNV PGxome

$990
Ellis-van Creveld Syndrome (EVC) Panel

Test Code

Method

Price

10079

Sequencing with CNV PGxome

$990
Ellis-van Creveld Syndrome via the EVC Gene

Test Code

Method

Price

11305

Sequencing with CNV PGxome

$990

988

Sanger Sequencing

$1190
Ellis-van Creveld Syndrome via the EVC2 Gene

Test Code

Method

Price

11307

Sequencing with CNV PGxome

$990

989

Sanger Sequencing

$1490
Emery-Dreifuss Muscular Dystrophy (EDMD1) via the EMD Gene

Test Code

Method

Price

7633

Sequencing with CNV PG-Select

$990
Epidermolysis Bullosa (EBS) and Related Disorders Panel

Test Code

Method

Price

3003

Sequencing with CNV PGxome

$990
Epidermolysis Bullosa Simplex (EBS) via the KRT14 Gene

Test Code

Method

Price

979

Sanger Sequencing

$780

8375

Sequencing with CNV PGxome

$990
Epidermolysis Bullosa Simplex (EBS) via the KRT5 Gene

Test Code

Method

Price

8377

Sequencing with CNV PGxome

$990

978

Sanger Sequencing

$780
Epidermolysis Bullosa with Pyloric Atresia and Plectinopathy via the PLEC Gene

Test Code

Method

Price

12009

Sequencing with CNV PGxome

$990

970

Sanger Sequencing

$2420
Epidermolysis Bullosa with Pyloric Atresia via the ITGA6 Gene

Test Code

Method

Price

977

Sanger Sequencing

$1250

8033

Sequencing with CNV PGxome

$990
Epidermolysis Bullosa with Pyloric Atresia via the ITGB4 Gene

Test Code

Method

Price

11405

Sequencing with CNV PGxome

$990

976

Sanger Sequencing

$1690
Epidermolytic Hyperkeratosis via the KRT1 Gene

Test Code

Method

Price

2097

Sanger Sequencing

$910

8201

Sequencing with CNV PGxome

$990
Epilepsy and Intellectual Disability in Females via the PCDH19 Gene

Test Code

Method

Price

4207

Sequencing with CNV PG-Select

$990
Epilepsy and Seizure Panel

Test Code

Method

Price

7347

Sequencing with CNV PGxome

$1490
Epilepsy, X-linked, with Variable Learning Disabilities and Behavior Disorders via the SYN1 Gene

Test Code

Method

Price

8287

Sequencing with CNV PG-Select

$990
Epilepsy: ALG13-Related Early Infantile Epileptic Encephalopathy via the ALG13 Gene

Test Code

Method

Price

7355

Sequencing with CNV PG-Select

$990
Epilepsy: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, Type 4 via the CHRNA2 Gene

Test Code

Method

Price

7945

Sequencing with CNV PG-Select

$990
Epilepsy: Benign Familial Neonatal Seizures Type 2 via the KCNQ3 Gene

Test Code

Method

Price

4305

Sequencing with CNV PG-Select

$990
Epilepsy: Early Infantile Epileptic Encephalopathy via the ARHGEF9 Gene

Test Code

Method

Price

4095

Sequencing with CNV PG-Select

$990
Epilepsy: Focal Epilepsy and Focal Cortical Dysplasia via the NPRL2 Gene

Test Code

Method

Price

7529

Sequencing with CNV PG-Select

$990
Epilepsy: GNAO1-Related Early Infantile Epileptic Encephalopathy and Neurodevelopmental Disorder with Involuntary Movement via the GNAO1 Gene

Test Code

Method

Price

5489

Sequencing with CNV PG-Select

$990
Epilepsy: Generalized Epilepsy with Febrile Seizures Plus, Type 9 via the STX1B Gene

Test Code

Method

Price

10495

Sequencing with CNV PG-Select

$990
Epilepsy: SCN3A-Related Epilepsy via the SCN3A Gene

Test Code

Method

Price

7993

Sequencing with CNV PG-Select

$990
Epilepsy: Unverricht-Lundborg Disease via the CSTB Gene

Test Code

Method

Price

9095

Sequencing with CNV PG-Select

$990
Epileptic Encephalopathy and Intellectual Disability via the CHD2 Gene

Test Code

Method

Price

4123

Sequencing with CNV PG-Select

$990
Epilespy, Autosomal Dominant Lateral Temporal, via the LGI1 Gene

Test Code

Method

Price

7037

Sequencing with CNV PG-Select

$990
Epimerase Deficiency Galactosemia via the GALE Gene

Test Code

Method

Price

1449

Sanger Sequencing

$810

8335

Sequencing with CNV PGxome

$990
Episodic Ataxia Panel

Test Code

Method

Price

13383

Sequencing with CNV PGxome

$990
Episodic Ataxia Type 1 or Hypomagnesemia via the KCNA1 Gene

Test Code

Method

Price

9249

Sequencing with CNV PG-Select

$990
Episodic Pain Syndrome Panel

Test Code

Method

Price

10123

Sequencing with CNV PGxome

$990
Erythropoietic Protoporphyria via the FECH Gene

Test Code

Method

Price

1691

Sanger Sequencing

$840

8289

Sequencing with CNV PGxome

$990
Ethylmalonic Encephalopathy via the ETHE1 Gene

Test Code

Method

Price

7637

Sequencing with CNV PG-Select

$990
Exome-Wide CNV Analysis

Test Code

Method

Price

99

Exome-Wide CNV Analysis

$650