Product | Type of test | Genes |
---|---|---|
Noonan syndrome type 4 | Gene NGS | SOS1 |
Norrie disease | Gene NGS | NDP |
Nudix Hydrolase15 | Gene NGS | NUDT15 |
Obesity due to melanocortin 4 receptor... | Gene NGS | MC4R |
Obesity, morbid, due to leptin deficiency | Gene NGS | LEP |
Ocular albinism type 1 | Gene NGS | TYR |
Oculocutaneous albinism. Type 2 | Gene NGS | OCA2 |
Oculocutaneous albinism. Type 2 | Detección de deleciones/duplicaciones | OCA2 |
oculodentodigital dysplasia | Gene NGS | SCNN1B |
Oculopharyngeal muscular dystrophy | Gene NGS | PABPN1 |
Oculopharyngeal muscular dystrophy | Detection of expansions | PABPN1 |
Ogden syndrome | Gene NGS | NAA10 |
Ohtahara syndrome | Targeted Exome | ARX, CACNA2D2, KCNQ2, PLCB1, SCN2A, SCN8A, SLC25A22, SPTAN1, STXBP1 |
Ohtahara syndrome | Gene NGS | ARX, STXBP1. |
Opitz syndrome | Gene NGS | MID1 |
Optic atrophy type 1 | Gene NGS | OPA1 |