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Tests and Panels

S-Adenosylhomocysteine Hydrolase Deficiency via the AHCY Gene

Test Code

Method

Price

2189

Sanger Sequencing

$940

8183

Sequencing with CNV PGxome

$890
SLC26A2-Related Disorders via the SLC26A2 Gene

Test Code

Method

Price

7827

Sequencing with CNV PG-Select

$640
SOX2-Related Ocular Disorders via the SOX2 Gene

Test Code

Method

Price

15297

Sequencing with CNV PG-Select

$640
Saethre-Chotzen Syndrome via the TWIST1 Gene

Test Code

Method

Price

2103

Sanger Sequencing

$440

9213

Sequencing with CNV PGxome

$890
Sandhoff Disease via the HEXB Gene

Test Code

Method

Price

7891

Sequencing with CNV PG-Select

$640
Schaaf-Yang Syndrome via the MAGEL2 Gene

Test Code

Method

Price

15179

Sequencing with CNV PG-Select

$640
Schimke Immunoosseous Dysplasia via the SMARCAL1 Gene

Test Code

Method

Price

11697

Sequencing with CNV PGxome

$890

1031

Sanger Sequencing

$1120
Schnyder Crystalline Corneal Dystrophy (SCCD) via the UBIAD1 Gene

Test Code

Method

Price

1820

Sanger Sequencing

$580

8925

Sequencing with CNV PGxome

$890
Schwannomatosis Panel

Test Code

Method

Price

10107

Sequencing with CNV PGxome

$890
Scott Syndrome via the ANO6 Gene

Test Code

Method

Price

11089

Sequencing with CNV PGxome

$890

2252

Sanger Sequencing

$1400
Seckel Syndrome, Primary Microcephaly and Familial Cutaneous Telangiectasia and Cancer Syndrome via the ATR Gene

Test Code

Method

Price

7979

Sequencing with CNV PGxome

$890

1291

Sanger Sequencing

$2450
Seipin-Related Disorders via the BSCL2 Gene

Test Code

Method

Price

11113

Sequencing with CNV PGxome

$890

461

Sanger Sequencing

$780
Seizures, Cortical Blindness, Microcephaly Syndrome and Deafness, Autosomal Dominant 1 (DFNA1) via the DIAPH1 Gene

Test Code

Method

Price

3999

Sequencing with CNV PG-Select

$640
Sengers Syndrome via the AGK Gene

Test Code

Method

Price

1727

Sanger Sequencing

$990

8133

Sequencing with CNV PGxome

$890
Sepiapterin Reductase (SR) Deficiency via the SPR Gene

Test Code

Method

Price

1871

Sanger Sequencing

$540

9043

Sequencing with CNV PGxome

$890
Septo-optic Dysplasia Spectrum Panel

Test Code

Method

Price

10211

Sequencing with CNV PGxome

$890
Severe Combined Immunodeficiency (SCID) Panel

Test Code

Method

Price

5209

Sequencing with CNV PGxome

$890
Severe Combined Immunodeficiency/Omenn Syndrome via the DCLRE1C (ARTEMIS) Gene

Test Code

Method

Price

4589

Sequencing with CNV PG-Select

$640
Severe Combined Immunodeficiency/Omenn Syndrome via the IL7R Gene

Test Code

Method

Price

11393

Sequencing with CNV PGxome

$890

189

Sanger Sequencing

$780
Severe Combined Immunodeficiency/Omenn Syndrome via the RAG1 Gene

Test Code

Method

Price

7287

Sequencing with CNV PG-Select

$640
Severe Combined Immunodeficiency/Omenn Syndrome via the RAG2 Gene

Test Code

Method

Price

7799

Sequencing with CNV PG-Select

$640
Severe Congenital Neutropenia (Dursun Syndrome) via the G6PC3 Gene

Test Code

Method

Price

8795

Sequencing with CNV PGxome

$890

443

Sanger Sequencing

$610
Severe Congenital Neutropenia (Kostmann Disease) via the HAX1 Gene

Test Code

Method

Price

7691

Sequencing with CNV PG-Select

$640
Severe Congenital Neutropenia Panel

Test Code

Method

Price

10257

Sequencing with CNV PGxome

$890
Severe Congenital Neutropenia and Cyclic Neutropenia via the ELANE Gene

Test Code

Method

Price

444

Sanger Sequencing

$560

8943

Sequencing with CNV PGxome

$890
Severe Congenital Neutropenia and Neutrophilia via the CSF3R Gene

Test Code

Method

Price

774

Sanger Sequencing

$990

8135

Sequencing with CNV PGxome

$890
Severe Congenital Neutropenia via the GFI1 Gene

Test Code

Method

Price

8623

Sequencing with CNV PGxome

$890

447

Sanger Sequencing

$670
Severe Congenital Neutropenia via the VPS45 Gene

Test Code

Method

Price

11799

Sequencing with CNV PGxome

$890

773

Sanger Sequencing

$970
Severe MTHFR Deficiency via the MTHFR Gene

Test Code

Method

Price

7291

Sequencing with CNV PG-Select

$640
Short Chain Acyl-CoA Dehydrogenase Deficiency via the ACADS Gene

Test Code

Method

Price

183

Sanger Sequencing

$730

8461

Sequencing with CNV PGxome

$890
Short QT Syndrome Panel

Test Code

Method

Price

10231

Sequencing with CNV PGxome

$890
Short Rib Skeletal Dysplasia Panel

Test Code

Method

Price

10347

Sequencing with CNV PGxome

$990
Short Stature with or without Partial Isolated Growth Hormone Deficiency via the GHSR Gene

Test Code

Method

Price

628

Sanger Sequencing

$540

9045

Sequencing with CNV PGxome

$890
Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX Gene

Test Code

Method

Price

626

Sanger Sequencing

$520
Short-Rib-Polydactyly Syndrome via the DYNC2H1 Gene

Test Code

Method

Price

11275

Sequencing with CNV PGxome

$890
Shprintzen-Goldberg Syndrome via the SKI Gene

Test Code

Method

Price

7293

Sequencing with CNV PG-Select

$680
Shwachman-Diamond Syndrome via the SBDS Gene

Test Code

Method

Price

1289

Sanger Sequencing

$690
Sialic Acid Storage Disorder (Salla Disease) via the SLC17A5 Gene

Test Code

Method

Price

7823

Sequencing with CNV PG-Select

$640
Sialuria via the GNE Gene, Exon 5

Test Code

Method

Price

368

Sanger Sequencing

$250
Sick Sinus Syndrome and Brugada Syndrome via the HCN4 Gene

Test Code

Method

Price

11369

Sequencing with CNV PGxome

$890

947

Sanger Sequencing

$960
Simpson-Golabi-Behmel Syndrome via the GPC3 Gene

Test Code

Method

Price

9981

Sequencing with CNV PG-Select

$640
Sitosterolemia Panel

Test Code

Method

Price

10109

Sequencing with CNV PGxome

$890
Sitosterolemia via the ABCG5 Gene

Test Code

Method

Price

15219

Sequencing with CNV PG-Select

$640
Sitosterolemia via the ABCG8 Gene

Test Code

Method

Price

15221

Sequencing with CNV PG-Select

$640
Sjogren-Larsson Syndrome via the ALDH3A2 Gene

Test Code

Method

Price

7861

Sequencing with CNV PG-Select

$640
Skeletal Disorders and Joint Problems Panel

Test Code

Method

Price

10631

Sequencing with CNV PGxome

$1790
Skin and Connective Tissue Disorders Panel

Test Code

Method

Price

12027

Sequencing with CNV PGxome

$990
Small Patella Syndrome via the TBX4 Gene

Test Code

Method

Price

8595

Sequencing with CNV PGxome

$890

859

Sanger Sequencing

$680
Smith-Lemli-Opitz Syndrome via the DHCR7 Gene

Test Code

Method

Price

410

Sanger Sequencing

$710

9573

Sequencing with CNV PGxome

$890
Smith-Magenis and Potocki-Lupski syndromes via the RAI1 Gene

Test Code

Method

Price

15195

Sequencing with CNV PG-Select

$640
Snyder-Robinson Syndrome, Spermine Synthase Deficiency via the SMS Gene

Test Code

Method

Price

9909

Sequencing with CNV PG-Select

$640
Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit Disorders via the SCN9A Gene

Test Code

Method

Price

3067

Sequencing with CNV PG-Select

$640
Sorsby Fundus Dystrophy via the TIMP3 Gene

Test Code

Method

Price

699

Sanger Sequencing

$540

9047

Sequencing with CNV PGxome

$890
Sotos Syndrome via the NSD1 Gene

Test Code

Method

Price

11529

Sequencing with CNV PGxome

$890

132

Sanger Sequencing

$1540
Spastic Ataxia with Optic Atrophy (SPAX4) via the MTPAP Gene

Test Code

Method

Price

11475

Sequencing with CNV PGxome

$890

2254

Sanger Sequencing

$840
Spastic Paraplegia 10 via the KIF5A Gene

Test Code

Method

Price

5247

Sequencing with CNV PG-Select

$640
Spastic Paraplegia 11 via the SPG11 Gene

Test Code

Method

Price

15299

Sequencing with CNV PG-Select

$640
Spastic Paraplegia 12 via the RTN2 Gene

Test Code

Method

Price

2853

Sanger Sequencing

$780

4917

Sequencing with CNV PGxome

$890
Spastic Paraplegia 13 via the HSPD1 Gene

Test Code

Method

Price

2842

Sanger Sequencing

$840

9919

Sequencing with CNV PGxome

$890
Spastic Paraplegia 15 via the ZFYVE26 Gene

Test Code

Method

Price

5477

Sequencing with CNV PG-Select

$640
Spastic Paraplegia 18 via the ERLIN2 Gene

Test Code

Method

Price

4903

Sequencing with CNV PGxome

$890
Spastic Paraplegia 20 (Troyer Syndrome) via the SPART (SPG20) Gene

Test Code

Method

Price

4539

Sequencing with CNV PGxome

$890
Spastic Paraplegia 21 (Mast Syndrome) via the SPG21(ACP33) Gene

Test Code

Method

Price

2855

Sanger Sequencing

$750

8445

Sequencing with CNV PGxome

$890
Spastic Paraplegia 26 via the B4GALNT1 Gene

Test Code

Method

Price

5281

Sequencing with CNV PGxome

$890

2499

Sanger Sequencing

$810
Spastic Paraplegia 28 via the DDHD1 Gene

Test Code

Method

Price

2834

Sanger Sequencing

$1220

4893

Sequencing with CNV PGxome

$890
Spastic Paraplegia 35 via the FA2H Gene

Test Code

Method

Price

2159

Sanger Sequencing

$710

8497

Sequencing with CNV PGxome

$890
Spastic Paraplegia 3A via the ATL1 Gene

Test Code

Method

Price

15227

Sequencing with CNV PG-Select

$640
Spastic Paraplegia 4 via the SPAST Gene

Test Code

Method

Price

2165

Sanger Sequencing

$1100

8079

Sequencing with CNV PGxome

$890
Spastic Paraplegia 46 via the GBA2 Gene

Test Code

Method

Price

5425

Sequencing with CNV PGxome

$890

2841

Sanger Sequencing

$970
Spastic Paraplegia 47 via the AP4B1 Gene

Test Code

Method

Price

5401

Sequencing with CNV PGxome

$890
Spastic Paraplegia 48 via the AP5Z1 Gene

Test Code

Method

Price

5279

Sequencing with CNV PGxome

$890

2495

Sanger Sequencing

$1060
Spastic Paraplegia 49 via the TECPR2 Gene

Test Code

Method

Price

5039

Sequencing with CNV PG-Select

$640
Spastic Paraplegia 50 via the AP4M1 Gene

Test Code

Method

Price

5405

Sequencing with CNV PGxome

$890
Spastic Paraplegia 51 via the AP4E1 Gene

Test Code

Method

Price

5403

Sequencing with CNV PGxome

$890
Spastic Paraplegia 52 via the AP4S1 Gene

Test Code

Method

Price

2494

Sanger Sequencing

$610

8799

Sequencing with CNV PGxome

$890
Spastic Paraplegia 53 via the VPS37A Gene

Test Code

Method

Price

2859

Sanger Sequencing

$870

4373

Sequencing with CNV PGxome

$890
Spastic Paraplegia 54 via the DDHD2 Gene

Test Code

Method

Price

4895

Sequencing with CNV PGxome

$890
Spastic Paraplegia 56 via the CYP2U1 Gene

Test Code

Method

Price

2832

Sanger Sequencing

$750

8447

Sequencing with CNV PGxome

$890
Spastic Paraplegia 58 via the KIF1C Gene

Test Code

Method

Price

2845

Sanger Sequencing

$1310

5407

Sequencing with CNV PGxome

$890
Spastic Paraplegia 59 via the USP8 Gene

Test Code

Method

Price

15409

Sequencing with CNV PG-Select

$640
Spastic Paraplegia 5A via the CYP7B1 Gene

Test Code

Method

Price

15239

Sequencing with CNV PG-Select

$640
Spastic Paraplegia 6 via the NIPA1 Gene

Test Code

Method

Price

2847

Sanger Sequencing

$610

8801

Sequencing with CNV PGxome

$890
Spastic Paraplegia 61 via the ARL6IP1 Gene

Test Code

Method

Price

2496

Sanger Sequencing

$680

4347

Sequencing with CNV PGxome

$890
Spastic Paraplegia 62 via the ERLIN1 Gene

Test Code

Method

Price

4901

Sequencing with CNV PGxome

$890
Spastic Paraplegia 72 via the REEP2 Gene

Test Code

Method

Price

2852

Sanger Sequencing

$680

4349

Sequencing with CNV PGxome

$890
Spastic Paraplegia 73 via the CPT1C Gene

Test Code

Method

Price

13321

Sequencing with CNV PGxome

$890
Spastic Paraplegia 75 via the MAG Gene

Test Code

Method

Price

2846

Sanger Sequencing

$840

8315

Sequencing with CNV PGxome

$890
Spastic Paraplegia 76 via the CAPN1 Gene

Test Code

Method

Price

10063

Sequencing with CNV PGxome

$890
Spastic Paraplegia 8 via the WASHC5/KIAA0196 Gene

Test Code

Method

Price

2843

Sanger Sequencing

$1470

8013

Sequencing with CNV PGxome

$890
Spastic Paraplegia and Psychomotor Retardation with or without Seizures (SPPRS) via the HACE1 Gene

Test Code

Method

Price

15243

Sequencing with CNV PG-Select

$640
Specialized Sequencing of the Mutational Hotspot RPGR (isoform C) ORF15 Region

Test Code

Method

Price

2085

Sanger Sequencing

$440
Spherocytosis/Elliptocytosis Panel

Test Code

Method

Price

10233

Sequencing with CNV PGxome

$890
Spinal Muscular Atrophy (SMA) via MLPA of SMN1 and SMN2

Test Code

Method

Price

6064

MLPA

$540
Spinal Muscular Atrophy with Respiratory Distress Type 1 via the IGHMBP2 Gene

Test Code

Method

Price

11387

Sequencing with CNV PGxome

$890

339

Sanger Sequencing

$910
Spinal Muscular Atrophy, Autosomal Dominant, Adult-Onset and Amyotrophic Lateral Sclerosis-8 via the VAPB Gene

Test Code

Method

Price

8927

Sequencing with CNV PG-Select

$640
Spinocerebellar Ataxia 21 via the TMEM240 Gene

Test Code

Method

Price

3753

Sanger Sequencing

$680

8597

Sequencing with CNV PGxome

$890
Spinocerebellar Ataxia Type 17 via the TBP CAG/CAA Repeat Expansion

Test Code

Method

Price

6059

Repeat-Primed PCR & Fragment Length

$250
Spinocerebellar Ataxia Type 2 via the ATXN2 CAG Repeat Expansion

Test Code

Method

Price

12976

Repeat-Primed PCR & Fragment Length

$250
Spinocerebellar Ataxia, Autosomal Recessive-8 via the SYNE1 Gene Exons 2-146

Test Code

Method

Price

11729

Sequencing with CNV PGxome

$890

246

Sanger Sequencing

$6200
Spinocerebellar Ataxia-12 via the WWOX Gene

Test Code

Method

Price

7303

Sequencing with CNV PG-Select

$640
Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Hand Type (SMED-SL) via the DDR2 Gene

Test Code

Method

Price

8189

Sequencing with CNV PGxome

$890

625

Sanger Sequencing

$930
Spondylocostal Dysostosis Panel

Test Code

Method

Price

10213

Sequencing with CNV PGxome

$890
Spondylocostal Dysostosis and Spondylothoracic Dysostosis via the MESP2 Gene

Test Code

Method

Price

423

Sanger Sequencing

$540

9049

Sequencing with CNV PGxome

$890
Spondylocostal Dysostosis via the DLL3 Gene

Test Code

Method

Price

421

Sanger Sequencing

$680

8599

Sequencing with CNV PGxome

$890
Spondylocostal Dysostosis via the HES7 Gene

Test Code

Method

Price

1422

Sanger Sequencing

$650

9995

Sequencing with CNV PGxome

$890
Spondylocostal Dysostosis via the LFNG Gene

Test Code

Method

Price

422

Sanger Sequencing

$670

9983

Sequencing with CNV PGxome

$890
Spondylocostal Dysostosis via the TBX6 Gene

Test Code

Method

Price

11733

Sequencing with CNV PGxome

$890

1421

Sanger Sequencing

$750
Spondyloenchondrodysplasia with Immune Dysregulation via the ACP5 Gene

Test Code

Method

Price

9151

Sequencing with CNV PGxome

$890

1151

Sanger Sequencing

$490
Stargardt Disease (STGD) and Macular Dystrophies Panel

Test Code

Method

Price

4315

Sequencing with CNV PGxome

$890
Stargardt disease, Fundus Flavimaculatus or Retinal Dystrophy, Early-Onset Severe via the ABCA4 Gene

Test Code

Method

Price

11047

Sequencing with CNV PGxome

$890

696

Sanger Sequencing

$1950
Steroid-Resistant Nephrotic Syndrome (SRNS) via the AVIL Gene

Test Code

Method

Price

13303

Sequencing with CNV PGxome

$890
Steroid-Resistant Nephrotic Syndrome (SRNS) via the PLCE1 Gene

Test Code

Method

Price

11593

Sequencing with CNV PGxome

$890

557

Sanger Sequencing

$1720
Steroid-Resistant Nephrotic Syndrome (SRNS)/ Focal Segmental Glomerulosclerosis (FSGS) via the TRPC6 Gene

Test Code

Method

Price

11771

Sequencing with CNV PGxome

$890

2041

Sanger Sequencing

$940
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ2 Gene

Test Code

Method

Price

2039

Sanger Sequencing

$680

8601

Sequencing with CNV PGxome

$890
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ6 Gene

Test Code

Method

Price

1621

Sanger Sequencing

$840

8317

Sequencing with CNV PGxome

$890
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ8B/ADCK4 Gene

Test Code

Method

Price

1682

Sanger Sequencing

$940

8185

Sequencing with CNV PGxome

$890
Steroid-Resistant Nephrotic Syndrome and XX Female Gonadal Dysgenesis via the NUP107 Gene

Test Code

Method

Price

11531

Sequencing with CNV PGxome

$890
Steroid-Resistant Nephrotic Syndrome via the NPHS2 Gene

Test Code

Method

Price

7765

Sequencing with CNV PG-Select

$640
Steroid-Resistant Nephrotic Syndrome via the NUP205 Gene

Test Code

Method

Price

11533

Sequencing with CNV PGxome

$890
Steroid-Resistant Nephrotic Syndrome via the NUP93 Gene

Test Code

Method

Price

11535

Sequencing with CNV PGxome

$890
Steroid-Resistant Nephrotic Syndrome via the XPO5 Gene

Test Code

Method

Price

11815

Sequencing with CNV PGxome

$890
Steroid-Resistant Nephrotic syndrome via the WT1 Gene

Test Code

Method

Price

10677

Sequencing with CNV PG-Select

$540
Sterol Disorders Panel

Test Code

Method

Price

13319

Sequencing with CNV PGxome

$890
Stickler Syndrome Panel

Test Code

Method

Price

10271

Sequencing with CNV PGxome

$890
Stickler Syndrome Type II, Marshall Syndrome, and Fibrochondrogenesis via the COL11A1 Gene

Test Code

Method

Price

11187

Sequencing with CNV PGxome

$890

831

Sanger Sequencing

$2490
Stickler Syndrome Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via the COL11A2 Gene

Test Code

Method

Price

11189

Sequencing with CNV PGxome

$890

829

Sanger Sequencing

$2040
Strabismus Syndrome or Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Panel

Test Code

Method

Price

2685

Sequencing with CNV PGxome

$890
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

Test Code

Method

Price

15423

Sequencing with CNV PGxome

$1380
Stuttering Panel

Test Code

Method

Price

10143

Sequencing with CNV PGxome

$890
Stuttering via the NAGPA Gene

Test Code

Method

Price

11503

Sequencing with CNV PGxome

$890

318

Sanger Sequencing

$710
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency via the OXCT1 Gene

Test Code

Method

Price

987

Sanger Sequencing

$1160

11845

Sequencing with CNV PGxome

$890
Sudden Cardiac Arrest Panel

Test Code

Method

Price

2609

Sequencing with CNV PGxome

$890
Sulfite Oxidase Deficiency via the SUOX Gene

Test Code

Method

Price

1872

Sanger Sequencing

$680

8603

Sequencing with CNV PGxome

$890
Supravalvular Aortic Stenosis (SVAS) and Cutis Laxa via the ELN Gene

Test Code

Method

Price

4393

Sequencing with CNV PG-Select

$640
Surfactant Deficiency via the ABCA3 Gene

Test Code

Method

Price

11045

Sequencing with CNV PGxome

$890

1887

Sanger Sequencing

$1800
Surfactant Protein B Deficiency via the SFTPB Gene

Test Code

Method

Price

11663

Sequencing with CNV PGxome

$890

1885

Sanger Sequencing

$810
Surfactant Protein C Deficiency via the SFTPC Gene

Test Code

Method

Price

1886

Sanger Sequencing

$650

8697

Sequencing with CNV PGxome

$890
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via the NOG Gene

Test Code

Method

Price

1620

Sanger Sequencing

$440

9219

Sequencing with CNV PGxome

$890
Syndactyly Panel

Test Code

Method

Price

12683

Sequencing with CNV PGxome

$1450
Syndromic Intellectual Disability via the PIGY Gene

Test Code

Method

Price

5766

Sanger Sequencing

$250

9253

Sequencing with CNV PGxome

$890
Syndromic Intellectual Disability via the PURA Gene

Test Code

Method

Price

8605

Sequencing with CNV PG-Select

$640
Syndromic Intellectual Disability/Autism Spectrum Disorder via the DYRK1A Gene

Test Code

Method

Price

8137

Sequencing with CNV PG-Select

$640
Syndromic Microphthalmia via the OTX2 Gene

Test Code

Method

Price

1823

Sanger Sequencing

$490

9153

Sequencing with CNV PGxome

$890
Syndromic X-linked intellectual Disability Type 34, via the NONO Gene

Test Code

Method

Price

10695

Sequencing with CNV PGxome

$890
Systemic Primary Carnitine Deficiency via the SLC22A5 Gene

Test Code

Method

Price

1187

Sanger Sequencing

$780

9477

Sequencing with CNV PGxome

$890