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Tests and Panels

Bamforth-Lazarus Syndrome via the FOXE1 Gene

Test Code

Method

Price

1582

Sanger Sequencing

$580

8833

Sequencing with CNV PGxome

$990
Baraitser-Winter Syndrome Type 1 via the ACTB Gene

Test Code

Method

Price

8835

Sequencing with CNV PGxome

$990

2008

Sanger Sequencing

$580
Bardet-Biedl Syndrome (BBS) Panel

Test Code

Method

Price

10349

Sequencing with CNV PGxome

$990
Bardet-Biedl Syndrome via the ARL6/BBS3 Gene

Test Code

Method

Price

15145

Sequencing with CNV PG-Select

$990
Bardet-Biedl Syndrome via the BBS1 Gene

Test Code

Method

Price

7585

Sequencing with CNV PG-Select

$990
Bardet-Biedl Syndrome via the BBS10 Gene

Test Code

Method

Price

7587

Sequencing with CNV PG-Select

$990
Bardet-Biedl Syndrome via the BBS12 Gene

Test Code

Method

Price

7589

Sequencing with CNV PG-Select

$990
Bardet-Biedl Syndrome via the BBS2 Gene

Test Code

Method

Price

6955

Sequencing with CNV PG-Select

$990
Bardet-Biedl Syndrome via the BBS4 Gene

Test Code

Method

Price

6957

Sequencing with CNV PG-Select

$990
Bardet-Biedl Syndrome via the BBS5 Gene

Test Code

Method

Price

15147

Sequencing with CNV PG-Select

$990
Bardet-Biedl Syndrome via the BBS7 Gene

Test Code

Method

Price

7591

Sequencing with CNV PG-Select

$990
Bardet-Biedl Syndrome via the BBS9 Gene

Test Code

Method

Price

4561

Sequencing with CNV PG-Select

$990
Bardet-Biedl Syndrome via the MKKS/BBS6 Gene

Test Code

Method

Price

7741

Sequencing with CNV PG-Select

$990
Bardet-Biedl Syndrome via the TRIM32/BBS11 Gene

Test Code

Method

Price

15209

Sequencing with CNV PG-Select

$990
Bardet-Biedl Syndrome via the TTC8/BBS8 Gene

Test Code

Method

Price

6961

Sequencing with CNV PG-Select

$990
Barth Syndrome via the TAFAZZIN/TAZ Gene

Test Code

Method

Price

149

Sanger Sequencing

$680

8525

Sequencing with CNV PGxome

$990
Bartter Syndrome Type 1 via the SLC12A1 Gene

Test Code

Method

Price

11669

Sequencing with CNV PGxome

$990

1264

Sanger Sequencing

$1400
Bartter Syndrome Type 2 via the KCNJ1 Gene

Test Code

Method

Price

1266

Sanger Sequencing

$610

8723

Sequencing with CNV PGxome

$990
Bartter Syndrome Type 4 via the BSND Gene

Test Code

Method

Price

7595

Sequencing with CNV PG-Select

$990
Beckwith-Wiedemann Syndrome via the CDKN1C Gene

Test Code

Method

Price

10005

Sequencing with CNV PG-Select

$990
Benign Flecked Retina Disorder via the PLA2G5 Gene

Test Code

Method

Price

2439

Sanger Sequencing

$580

8839

Sequencing with CNV PGxome

$990
Bernard-Soulier Syndrome via the GP1BA Gene

Test Code

Method

Price

433

Sanger Sequencing

$580

8841

Sequencing with CNV PGxome

$990
Bernard-Soulier Syndrome via the GP1BB Gene

Test Code

Method

Price

434

Sanger Sequencing

$490

9073

Sequencing with CNV PGxome

$990
Bernard-Soulier Syndrome via the GP9 Gene

Test Code

Method

Price

435

Sanger Sequencing

$370

9227

Sequencing with CNV PGxome

$990
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via the BEST1 Gene

Test Code

Method

Price

671

Sanger Sequencing

$840

8273

Sequencing with CNV PGxome

$990
Beta-Thalassemia and Hemoglobinopathy via the HBB Gene

Test Code

Method

Price

7693

Sequencing with CNV PG-Select

$990
Beta-propeller Protein-Associated Neurodegeneration (BPAN) via the WDR45 Gene

Test Code

Method

Price

8527

Sequencing with CNV PG-Select

$990
Bietti Crystalline Corneoretinal Dystrophy via the CYP4V2 Gene

Test Code

Method

Price

1541

Sanger Sequencing

$870

8235

Sequencing with CNV PGxome

$990
Bilateral frontoparietal polymicrogyria (BFPP) via the ADGRG1 (GPR56) Gene

Test Code

Method

Price

7567

Sequencing with CNV PG-Select

$990
Biotin-Thiamine-Responsive Basal Ganglia Disease via the SLC19A3 Gene

Test Code

Method

Price

4235

Sequencing with CNV PG-Select

$990
Biotinidase Deficiency via the BTD Gene

Test Code

Method

Price

520

Sanger Sequencing

$580

9551

Sequencing with CNV PGxome

$990
Birt-Hogg-Dube Syndrome via the FLCN Gene

Test Code

Method

Price

8409

Sequencing with CNV PG-Select

$990
Bleeding Disorders Panel

Test Code

Method

Price

10425

Sequencing with CNV PGxome

$990
Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES) via the FOXL2 Gene

Test Code

Method

Price

1673

Sanger Sequencing

$610
Bloom's Syndrome via the BLM Gene

Test Code

Method

Price

3089

Sequencing with CNV PG-Select

$990
Bohring-Opitz Syndrome via the ASXL1 Gene

Test Code

Method

Price

2298

Sanger Sequencing

$1280

9827

Sequencing with CNV PGxome

$990
Bone Fragility and Fracture Panel

Test Code

Method

Price

12679

Sequencing with CNV PGxome

$990
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via the NR2F1 Gene

Test Code

Method

Price

496

Sanger Sequencing

$580

8843

Sequencing with CNV PGxome

$990
Brachydactyly via the CHSY1 Gene

Test Code

Method

Price

9895

Sequencing with CNV PGxome

$990

2885

Sanger Sequencing

$910
Bradyopsia (Retinal Dysfunction) via the RGS9 Gene

Test Code

Method

Price

13029

Sequencing with CNV PGxome

$990
Bradyopsia (Retinal Dysfunction) via the RGS9BP Gene

Test Code

Method

Price

13031

Sequencing with CNV PGxome

$990

3733

Sanger Sequencing

$490
Brain Malformation Panel

Test Code

Method

Price

12613

Sequencing with CNV PGxome

$990
Brain Small Vessel Disease 2 via the COL4A2 Gene

Test Code

Method

Price

15129

Sequencing with CNV PGxome

$990
Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency via the BCKDK Gene

Test Code

Method

Price

4101

Sequencing with CNV PG-Select

$990
Branchio-Oculo-Facial Syndrome (BOFS) via the TFAP2A Gene

Test Code

Method

Price

1672

Sanger Sequencing

$680

8529

Sequencing with CNV PGxome

$990
Branchiootorenal Syndrome Panel

Test Code

Method

Price

10115

Sequencing with CNV PGxome

$990
Branchiootorenal Syndrome via the SIX1 Gene

Test Code

Method

Price

1474

Sanger Sequencing

$440

9165

Sequencing with CNV PGxome

$990
Branchiootorenal Syndrome via the SIX5 Gene

Test Code

Method

Price

8531

Sequencing with CNV PGxome

$990

1476

Sanger Sequencing

$680
Branchiootorenal syndrome via the EYA1 Gene

Test Code

Method

Price

11309

Sequencing with CNV PGxome

$990

1473

Sanger Sequencing

$870
Breast Cancer - Expanded Risk Panel

Test Code

Method

Price

5435

Sequencing with CNV PG-Select

$990
Breast Cancer - High / Moderate Risk Panel

Test Code

Method

Price

5433

Sequencing with CNV PG-Select

$990
Breast Cancer - High Risk Panel

Test Code

Method

Price

5431

Sequencing with CNV PG-Select

$990
Brittle Cornea Syndrome Panel

Test Code

Method

Price

2683

Sequencing with CNV PGxome

$990
Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A3 Gene

Test Code

Method

Price

8711

Sequencing with CNV PGxome

$990

417

Sanger Sequencing

$630
Brown-Vialetto-Van Laere Syndrome 2 and Fazio-Londe Disease (Progressive Bulbar Palsy with or without Sensorineural Deafness) via the SLC52A2 Gene

Test Code

Method

Price

920

Sanger Sequencing

$440

9167

Sequencing with CNV PGxome

$990
Brown-Vialetto-van Laere Syndrome and Fazio-Londe Disease Panel

Test Code

Method

Price

12087

Sequencing with CNV PGxome

$990
Brugada Syndrome 1 via the SCN5A Gene

Test Code

Method

Price

3113

Sequencing with CNV PG-Select

$990
Brugada Syndrome Panel

Test Code

Method

Price

10329

Sequencing with CNV PGxome

$990
Brugada Syndrome via the CACNA2D1 Gene

Test Code

Method

Price

11127

Sequencing with CNV PGxome

$990
Brugada Syndrome via the CACNB2 Gene

Test Code

Method

Price

11131

Sequencing with CNV PGxome

$990

1013

Sanger Sequencing

$1020
Brugada Syndrome via the GPD1L Gene

Test Code

Method

Price

1011

Sanger Sequencing

$710

9955

Sequencing with CNV PGxome

$990
Brugada Syndrome via the KCND3 Gene

Test Code

Method

Price

11417

Sequencing with CNV PGxome

$990
Brugada Syndrome via the KCNE3 Gene

Test Code

Method

Price

1016

Sanger Sequencing

$350

9247

Sequencing with CNV PGxome

$990
Brugada Syndrome via the RANGRF Gene

Test Code

Method

Price

2488

Sanger Sequencing

$540

3977

Sequencing with CNV PGxome

$990
Brugada Syndrome via the SCN3B Gene

Test Code

Method

Price

1017

Sanger Sequencing

$580

8845

Sequencing with CNV PGxome

$990
Brugada Syndrome via the SLMAP Gene

Test Code

Method

Price

11693

Sequencing with CNV PGxome

$990
Brunner Syndrome via the MAOA Gene

Test Code

Method

Price

10697

Sequencing with CNV PGxome

$990

1875

Sanger Sequencing

$870
Butyrylcholinesterase Deficiency via the BCHE Gene

Test Code

Method

Price

7873

Sequencing with CNV PG-Select

$990