Neonatology
None
| Product | Type of test | Genes |
|---|---|---|
| Acrofacial dysostosis | Gene NGS | POLR1A |
| CANDLE syndrome | Gene NGS | PSMB8 |
| Cherubism. | Gene NGS | SH3BP2 |
| Craneosinostosis | Targeted Exome | ASXL1, CDC45, COLEC11, FGFR1, IHH, IL11RA, MEGF8, MSX2, POR, RAB23, RUNX2, SK1, WDR35, ZIC1 |
| Early epileptic encephalopathies | Gene NGS | STXBP1, SCN8A |
| Early epileptic encephalopathies | Gene NGS | SCN8A,SCL2A1 |
| Fraser syndrome | Gene NGS | FREM2 |
| Fructosemia | Gene NGS | ALDOB |
| Hereditary hypophosphatemic rickets | Gene NGS | PHEX |
| Heterotaxy | Gene NGS | ZIC3 |
| Holt-Oram syndrome | Gene NGS | TBX5 |
| Hyperekplexia 3 (HKPX3) | Gene NGS | SLC6A5 |
| Leukoencephalopathy with brainstem and... | Gene NGS | DARS2 |
| Male pseudohermaphroditism due to... | Gene NGS | SRD5A2 |
| Metachromatic leukodystrophy | Gene NGS | ARSA |
| Nail-patella syndrome | Gene NGS | LMX1B |
Showing 1 - 16 of 26 items
- 1
- 2
-
- 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