Neuropediatrics
None
| Product | Type of test | Genes |
|---|---|---|
| Thoracic aortic aneurysm VI | Gene NGS | ACTA2 |
| Thrombophilia due to thrombomodulin defect | Gene NGS | THBD |
| Thyroid dyshormonogenesis 2A | Gene NGS | TPO |
| Thyroid dyshormonogenesis 3 | Gene NGS | TG |
| Thyroid hormone resistance | Gene NGS | THRB |
| Townes-Brocks syndrome | Gene NGS | SALL1 |
| Treacher-Collins syndrome | Gene NGS | TCOF |
| Trichohepatoenteric (syndromic diarrhea),... | Gene NGS | SKIV2L |
| Trichorhinophalangeal syndrome, type I | Gene NGS | TRPS1 |
| Tuberous Sclerosis | Gene NGS | TSC1,TSC2 |
| Tuberous Sclerosis 1 |
Detección de deleciones/duplicaciones |
TSC1 |
| Tuberous sclerosis-2 | Gene NGS | TSC2 |
| Tubulinopathies | Targeted Exome | TUBA1A, TUBB, TUBB2A, TUB2B, TUBB4A, POMPT1, POMT2, POMGnT1, FKNT, FKRP, LARGE, GTDC2, G3GALNT2, GMPPB, B3GNT1, TMEM5. |
| Type 38 autosomal recessive mental... | Targeted Exome | False |
| Tyrosinemia, type I | Gene NGS | FAH |
| Ullrich congenital muscular dystrophy | NGS Panel | COL6A1, COL6A2, COL6A3 |
-
- 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