Endocrinology
None
| Product | Type of test | Genes |
|---|---|---|
| Hypomyelination - hypogonadotropic... | Gene NGS | POLR3B |
| Hypophosphatasia, childhood | Gene NGS | ALPL |
| Lactose intolerance, adult | Gene NGS | MCM6 |
| Leptin receptor-related monogenic obesity | Gene NGS | LEPR |
| Lipodystrophy, congenital , type 2 | Gene NGS | AGPAT2 |
| Major hypertriglyceridemia | Gene NGS | GPIHBP1 |
| Major hypertriglyceridemia | Gene NGS | LIPI |
| Major hypertriglyceridemia | Gene NGS | APOA5 |
| Major Hypertriglyceridemia | Targeted Exome | LPL, APOA5, APOC2, LIPI, GPIHBP1, LMF1 |
| Mucolipidosis III | Gene NGS | GNPTAB |
| Mucopolysaccharidosis type 1H | Gene NGS | IDUA |
| Mucopolysaccharidosis type II | Gene NGS | IDS |
| Mucopolysaccharidosis type IIIA | Gene NGS | SGSH |
| Mucopolysaccharidosis type IIIC | Gene NGS | HGSNAT |
| Mucopolysaccharidosis type IIID | Gene NGS | GNS |
| Mucopolysaccharidosis type IV B | Gene NGS | GLB1 |
-
- Cytoarray (Ige, serum)
- Cytoarray 400K Autismo
- Cytoarray CGH 60k
- Cytoarray Parental (180k)
- Cytoarray Parental (60k)
- Cytoarray + SNP
- Cytoarray Plus + SNP ( 400k)
- Cytoarray Plus 180k
- Cytoarray Plus 1M
- Cytoarray Plus 400k
- Cytoarray Prenatal
- Cytoarray Prenatal 60K with Karyotype
- Cytoarray Prenatal - without bioinformatic analysis
-
PGS and PGD using NGSPrenatal DiagnosisNGS Carrier Screening PanelRecurrent Miscarriage TestingWhole Exome Sequencing