| | 53331550 | Lynch Syndrome | MLH1 - Whole Gene | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53331570 | Lynch Syndrome | MSH2 - Whole Gene | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53331580 | Lynch Syndrome | MSH6 - Whole Gene | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53331750 | Lynch Syndrome | PMS2 - Whole Gene | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 5000104 | Lynch Syndrome Panel | EpCAM, MLH1, MLH3, MSH2, MSH6, PMS1, PMS2 | Next Generation Sequence | EDTA blood | 2-3 ml | 45 |
| | 53330930 | Maple syrup urine disease, type 1a (MSUD) | BCKDHA - Exon 1, BCKDHA - Exon 2, BCKDHA - Exon 3, BCKDHA - Exon 4, BCKDHA - Exon 5, BCKDHA - Exon 6, BCKDHA - Exon 7, BCKDHA - Exon 8, BCKDHA - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53330940 | Maple syrup urine disease, type 1b (MSUD) | BCKDHB - Exon 1, BCKDHB - Exon 10, BCKDHB - Exon 2, BCKDHB - Exon 3, BCKDHB - Exon 4, BCKDHB - Exon 5, BCKDHB - Exon 6, BCKDHB - Exon 7, BCKDHB - Exon 8, BCKDHB - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53331160 | Maple syrup urine disease, type 2 (MSUD) | DBT - Whole Gene | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 331943 | Maternal contamination test | STR Analysis | Fragment analysis | EDTA blood | 2-3ml | 15 |
| | 332031 | Metachromatic Leukodystrophy | ARSA - Exon 1, ARSA - Exon 2, ARSA - Exon 3, ARSA - Exon 4, ARSA - Exon 5, ARSA - Exon 6, ARSA - Exon 7, ARSA - Exon 8 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53331560 | Methylmalonic aciduria | MMAB - Whole Gene | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53331590 | Methylmalonic aciduria | MUT - Whole Gene | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 3300582 | Mevalonate kinase deficiency / Hyper-IgD Syndrome | MVK - Exon 1, MVK - Exon 10, MVK - Exon 11, MVK - Exon 2, MVK - Exon 3, MVK - Exon 4, MVK - Exon 5, MVK - Exon 6, MVK - Exon 7, MVK - Exon 8, MVK - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 3300573 | Microdeletion FISH - Langer Giedion Syndrome (8q24.1) | | FISH analysis | Amnion, Chorioic villus, Cord Blood | 15-20ml/-/2-3 ml | 7 |
| | 332111 | Microdeletion FISH - Miller-Dieker
(17p13.3) | | FISH analysis | Amnion, Chorioic villus, Cord Blood | 15-20ml/-/2-3 ml | 7 |
| | 332089 | Microdeletion FISH - Neurofibromatosis | | FISH analysis | Amnion, Chorioic villus, Cord Blood | 15-20ml/-/2-3 ml | 7 |
| | 333016 | Microdeletion FISH - Prader-Willi/Angelman | | FISH analysis | Amnion, Chorioic villus, Cord Blood | 15-20ml/-/2-3 ml | 7 |
| | 333055 | Microdeletion FISH - Smith-Magenes | | FISH analysis | Amnion, Chorioic villus, Cord Blood | 15-20ml/-/2-3 ml | 7 |
| | 332107 | Microdeletion FISH - SRY
SRY - ( Yp11.31 ) | | FISH analysis | Amnion, Chorioic villus, Cord Blood | 15-20ml/-/2-3 ml | 7 |
| | 3300571 | Microdeletion FISH - Williams-Beuren Syndrome (7q11.23) | | FISH analysis | Amnion, Chorioic villus, Cord Blood | 15-20ml/-/2-3 ml | 7 |