Explore our tests
Discover the right genetic test for your patient in our complete list of tests and panels.
Showing 10 out of 402 tests
Septo-optic Dysplasia Spectrum Panel
NGS with CNV (Exome or Genome Platform)
2 - 3 weeks (6 - 12 days STAT)•Test 10211
2 - 3 weeks (6 - 12 days STAT)•Test 102118 Genes
Severe Congenital Neutropenia Panel
NGS with CNV (Exome or Genome Platform)2 - 3 weeks (7 - 16 days STAT)•Test 10257
2 - 3 weeks (7 - 16 days STAT)•Test 1025742 Genes
Severe MTHFR Deficiency via the MTHFR Gene
NGS with CNV (Exome or Genome Platform)2 - 3 weeks (7 - 16 days STAT)•Test 7291
2 - 3 weeks (7 - 16 days STAT)•Test 72911 Gene
Severe Skeletal Conditions Panel
NGS with CNV (Exome or Genome Platform)2 - 3 weeks (7 - 16 days STAT)•Test 15771
2 - 3 weeks (7 - 16 days STAT)•Test 1577185 Genes
Short Chain Acyl-CoA Dehydrogenase Deficiency via the ACADS Gene
NGS with CNV (Exome or Genome Platform)2 - 3 weeks (7 - 16 days STAT)•Test 8461
2 - 3 weeks (7 - 16 days STAT)•Test 84611 Gene
Short Rib Skeletal Dysplasia Panel
NGS with CNV (Exome or Genome Platform)2 - 3 weeks (7 - 16 days STAT)•Test 10347
2 - 3 weeks (7 - 16 days STAT)•Test 1034719 Genes
SHOX-Related Disorders via the SHOX Gene
Sanger Sequencing3 - 4 weeks (12 - 20 days STAT)•Test 626
3 - 4 weeks (12 - 20 days STAT)•Test 6261 Gene
Shwachman-Diamond Syndrome via the SBDS Gene
Sanger Sequencing3 - 4 weeks (12 - 19 days STAT)•Test 1289
3 - 4 weeks (12 - 19 days STAT)•Test 12891 Gene
Spinal Muscular Atrophy (SMA) via MLPA of SMN1 and SMN2
Multiplex Ligation-Dependent Probe Amplification Assay2 - 3 weeks (6 - 11 days STAT)•Test 6064
2 - 3 weeks (6 - 11 days STAT)•Test 60642 Genes
Spinocerebellar Ataxia Type 17 via the TBP CAG/CAA Repeat Expansion
Repeat-Primed PCR & Fragment Length1 - 2 weeks (6 - 10 days STAT)•Test 6059
1 - 2 weeks (6 - 10 days STAT)•Test 60591 Gene