Test Code Test Name Gene / Region Examined Analysis Method Sample Type Sample Amount Delivery Time
3300191 Spastic paraplegia 2, X-linked PLP1 - Exon 2, PLP1 - Exon 3, PLP1 - Exon 4, PLP1 - Exon 5, PLP1 - Exon 6, PLP1 - Exon 7 Sequence analysis AS, CVS, EDTA blood 2-3ml 20
3300179 Spastic paraplegia 44 GJC2 - Exon 2 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
331928 Spinal Muscular Atrophy (SMA) - MLPA Analysis SMN1-SMN2 - Deletion/Duplication MLPA Analysis AS, CVS, EDTA blood 2-3ml 21
3332004 Spinal Muscular Atrophy (SMA) - MLPA Analysis (Prenatal - Maternal Contamination included) MLPA Analysis AS, CVS, EDTA blood 2-3ml 15
3300595 Spinal Muscular Atrophy (SMA) - Sequence analysis SMN1 - Exon 1, SMN1 - Exon 2, SMN1 - Exon 3, SMN1 - Exon 4, SMN1 - Exon 5, SMN1 - Exon 6, SMN1 - Exon 7, SMN1 - Exon 8 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
53332006 Spinocerebellar Ataxia Panel CAG, CTA/CTG, SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, SCA-8 Fragment analysis EDTA blood 2-3ml 15
53330820 Spinocerebellar Ataxia Type 28, Spastic Ataxia Type 5 AFG3L2 - Exon 1, AFG3L2 - Exon 10, AFG3L2 - Exon 11, AFG3L2 - Exon 12, AFG3L2 - Exon 13, AFG3L2 - Exon 14, AFG3L2 - Exon 15, AFG3L2 - Exon 16, AFG3L2 - Exon 17, AFG3L2 - Exon 2, AFG3L2 - Exon 3, AFG3L2 - Exon 4, AFG3L2 - Exon 5, AFG3L2 - Exon 6, AFG3L2 - Exon 7, AFG3L2 - Exon 8, AFG3L2 - Exon 9 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
331945 Spondyloarthritis (HLAB27) HLAB27 Gel electrophoresis AS, CVS, EDTA blood 2-3ml 10
3300570 Spondylocostal dysostosis 1, autosomal recessive DLL3 - Exon 1, DLL3 - Exon 2, DLL3 - Exon 3, DLL3 - Exon 4, DLL3 - Exon 5, DLL3 - Exon 6, DLL3 - Exon 7, DLL3 - Exon 8, DLL3 - Exon 9 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
332112 Subtelomeric FISH-16 FISH analysis Blood (Heparin) 15-20ml/-/2-3 ml 10
332113 Subtelomeric FISH-17 FISH analysis Blood (Heparin) 15-20ml/-/2-3 ml 10
330064 Tanatophoric dysplasia Exon 15, FGFR3 - Exon 10 Sequence analysis AS, CVS, EDTA blood 2-3ml 10
3300256 TET2 gene Sequence analysis TET2 - Exon 10, TET2 - Exon 11, TET2 - Exon 3, TET2 - Exon 4, TET2 - Exon 5, TET2 - Exon 6, TET2 - Exon 7, TET2 - Exon 8, TET2 - Exon 9 DNA Analysis Bone marrow (EDTA) 2-3 ml 15
3300514 Thrombophilia panel - 3 Mutation Factor II G20210A / Factor V Leiden / MTHFR C677T Factor II G20210A, Factor V Leiden, MTHFR - C677T Sequence analysis EDTA blood 2-3ml 7
331986 Thrombophilia panel - 4 Mutation Factor II G20210A, Factor V Leiden, MTHFR - A1298C, MTHFR - C677T Sequence analysis EDTA blood 2-3ml 10
3300163 Thrombophilia panel - 6 Mutations Factor II G20210A, Factor V Leiden, Factor V R2, MTHFR - A1298C, MTHFR - C677T, PAI-1 Sequence analysis EDTA blood 2-3ml 10
333198 Transthyretin Amyloidosis TTR - Exon 1, TTR - Exon 2, TTR - Exon 3, TTR - Exon 4 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
5000103 Tuberous Sclerosis Disease Panel TSC1, TSC2 Next Generation Sequence EDTA blood 2-3 ml 45
53331370 Type 2 diabetes mellitus HNF1B - Whole Gene Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
53331240 Tyrosinemia Type 1 FAH - Whole Gene Sequence analysis AS, CVS, EDTA blood 2-3 ml 40

"Life is a chemically readable form of genetic code, showing that humans have the potential to redesign life."

Craig Venter