Endocrinology
None
| Product | Type of test | Genes |
|---|---|---|
| Nudix Hydrolase15 | Gene NGS | NUDT15 |
| Obesity due to melanocortin 4 receptor... | Gene NGS | MC4R |
| Pendred syndrome | Gene NGS | SLC26A4 |
| Peroxisome Proliferator Gamma | Gene NGS | PPARG |
| Persistent hyperinsulinemic hypoglycemia... | Gene NGS | ABCC8 |
| Pituitary hormone deficiency, combined 4 | Gene NGS | LHX4 |
| Predisposition to pituitary adenoma | Gene NGS | AIP |
| Pseudohypoparathyroidism type IA | Gene NGS | GNAS |
| Pseudohypoparathyroidism type IB | Gene NGS | GNAS |
| Pseudohypoparathyroidism type IC | Gene NGS | GNAS |
| Renal coloboma syndrome | Gene NGS | SALL2 |
| Type 2 diabetes | Gene NGS | AKT2 |
| X-linked adrenal hypoplasia congenita | Gene NGS | NR0B1 |
-
- 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