| | 3300533 | MPL DNA Analysis (Including W515L/W515K and S505N) | MPL Exon 10 | DNA Analysis | Blood (EDTA), Bone marrow (EDTA) | 2-3 ml | 10 |
| | 331931 | MTHFR Mutation Analysis - A1298C | MTHFR - A1298C | Sequence analysis | EDTA blood | 2-3ml | 7 |
| | 330054 | MTHFR mutation analysis - C677T | MTHFR - C677T | Sequence analysis | EDTA blood | 2-3ml | 7 |
| | 3300609 | Mucolipidosis II / III alpha/beta | GNPTAB - Exon 1, GNPTAB - Exon 10, GNPTAB - Exon 11, GNPTAB - Exon 12, GNPTAB - Exon 13, GNPTAB - Exon 14, GNPTAB - Exon 15, GNPTAB - Exon 16, GNPTAB - Exon 17, GNPTAB - Exon 18, GNPTAB - Exon 19, GNPTAB - Exon 2, GNPTAB - Exon 20, GNPTAB - Exon 21, GNPTAB - Exon 3, GNPTAB - Exon 4, GNPTAB - Exon 5, GNPTAB - Exon 6, GNPTAB - Exon 7, GNPTAB - Exon 8, GNPTAB - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 333164 | Mucopolysaccharidosis Type 3B (Sanfilippo B) | NAGLU - Exon 1, NAGLU - Exon 2, NAGLU - Exon 3, NAGLU - Exon 4, NAGLU - Exon 5, NAGLU - Exon 6 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 333130 | Mucopolysaccharidosis Type 4B | GLB1 - Exon 1, GLB1 - Exon 10, GLB1 - Exon 11, GLB1 - Exon 12, GLB1 - Exon 13, GLB1 - Exon 14, GLB1 - Exon 15, GLB1 - Exon 16, GLB1 - Exon 2, GLB1 - Exon 3, GLB1 - Exon 4, GLB1 - Exon 5, GLB1 - Exon 6, GLB1 - Exon 7, GLB1 - Exon 8, GLB1 - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53330910 | Mucopolysaccharidosis Type 6 | ARSB - Exon 1, ARSB - Exon 2, ARSB - Exon 3, ARSB - Exon 4, ARSB - Exon 5, ARSB - Exon 6, ARSB - Exon 7, ARSB - Exon 8 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53331330 | Mucopolysaccharidosis Type 7 | GUSB - Whole Gene | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 332019 | Mucopolysaccharidosis Type Ih/s (Hunler Syndrome) | IDUA- Exon 1, IDUA- Exon 10, IDUA- Exon 11, IDUA- Exon 12, IDUA- Exon 13, IDUA- Exon 14, IDUA- Exon 2, IDUA- Exon 3, IDUA- Exon 4, IDUA- Exon 5, IDUA- Exon 6, IDUA- Exon 7, IDUA- Exon 8, IDUA- Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3ml | 30 |
| | 332069 | Mucopolysaccharidosis Type II (MPS Type II) Hunter Syndrome | IDS - Exon 1, IDS - Exon 2, IDS - Exon 3, IDS - Exon 4, IDS - Exon 5, IDS - Exon 6, IDS - Exon 7, IDS - Exon 8, IDS - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3ml | 30 |
| | 3300213 | Mucopolysaccharidosis Type IVA - (MPS Type IVA) | GALNS - Exon 1, GALNS - Exon 10, GALNS - Exon 11, GALNS - Exon 12, GALNS - Exon 13, GALNS - Exon 14, GALNS - Exon 2, GALNS - Exon 3, GALNS - Exon 4, GALNS - Exon 5, GALNS - Exon 6, GALNS - Exon 7, GALNS - Exon 8, GALNS - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53330960 | Multifocal Epilepsy Syndrome | BRAT1 - Exon 1, BRAT1 - Exon 10, BRAT1 - Exon 11, BRAT1 - Exon 12, BRAT1 - Exon 13, BRAT1 - Exon 14, BRAT1 - Exon 2, BRAT1 - Exon 3, BRAT1 - Exon 4, BRAT1 - Exon 5, BRAT1 - Exon 6, BRAT1 - Exon 7, BRAT1 - Exon 8, BRAT1 - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 332110 | Multiple endocrine neoplasia 1 | MEN1 - Exon 10, MEN1 - Exon 2, MEN1 - Exon 3, MEN1 - Exon 4, MEN1 - Exon 5, MEN1 - Exon 6, MEN1 - Exon 7, MEN1 - Exon 8, MEN1 - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53331200 | Multiple Exocytosis Type 1 | EXT1 - Whole Gene | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53331210 | Multiple Exocytosis Type 2 | EXT2 - Whole Gene | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 3300575 | Multiple synostoses syndrome 3 | FGF9 - Exon 1, FGF9 - Exon 2, FGF9 - Exon 3 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 3300483 | Mutation Verification-1 Region | Targeted Analysis | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 3300482 | Mutation Verification-2 Regions | Targeted Analysis | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 3300568 | Myasthenic syndrome, congenetal, 5 | COLQ - Exon 1, COLQ - Exon 10, COLQ - Exon 11, COLQ - Exon 12, COLQ - Exon 13, COLQ - Exon 14, COLQ - Exon 15, COLQ - Exon 16, COLQ - Exon 17, COLQ - Exon 2, COLQ - Exon 3, COLQ - Exon 4, COLQ - Exon 5, COLQ - Exon 6, COLQ - Exon 7, COLQ - Exon 8, COLQ - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 331961 | Myotonic Dystrophy type 1 (DM1) | DMPK - CTG repat extension | Fragment analysis | AS, CVS, EDTA blood | 2-3ml | 15 |