Dermatology
None
| Product | Type of test | Genes |
|---|---|---|
| Monilethrix | Gene NGS | KRT81 |
| Monilethrix | Gene NGS | KRT86 |
| Naegeli-Franceschetti-Jadassohn syndrome | Gene NGS | KRT14 |
| Osler-Weber-Rendu syndrome | Gene NGS | ENG, ACVRL1 |
| Pachyonychia Congenita type 1 | Gene NGS | KRT6A |
| Pachyonychia Congenita type 1 | Gene NGS | KRT16 |
| Pachyonychia Congenita type 2 | Gene NGS | KRT6B |
| Pachyonychia Congenita type 2 | Gene NGS | KRT17 |
| Palmoplantar keratoderma,... | Gene NGS | KRT16 |
| Pigmentation abnormalities | Targeted Exome | ADAR, AP3B1, BLOC1S3, BLOC1S6, BRAF, CBL, DTNBP1, EDN3, EDNRB, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, KITLG, KRAS, LYST, MAP2K1, MAP2K2, MITF, MLPH, MYO5A, NF1, NRAS, OCA2, PAX3, PRKAR1A, PTPN11, RAB27A, RAF1, SHOC2, SLC45A2, SNAI2, SOS1, SOX10, SPRED1, STK11, TYR, TYRP1 |
| Proteus syndrome | Gene NGS | AKT1 |
| Pseudoxanthoma elasticum | Gene NGS | ABCC6 |
| Sebocystomatosis | Gene NGS | KRT17 |
| Severe atopic dermatitis | NGS Panel | ADAM17, CLEC7A |
| Síndrome de Papillon-Lefèvre | Gene NGS | CTSC |
| Sjögren-Larsson syndrome | Gene NGS | ALDH3A2 |
-
- 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