| 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 |