Producto | Tipo de test | Genes |
---|---|---|
Diabetes y sordera mitocondrial | Gen NGS | MT-TL1, MT-TE y MT-TK. |
Diarrea congénita | Exoma Dirigido | EPCAM, SLC26A3, MYO5B, SPINT2, NEUROG3, GUCY2C ,DGAT1 |
Diarrea Congénita con Perdida de Cloro | Gen NGS | SLC26A3 |
Diarrea intratable congénita familiar con... | Gen NGS | EPCAM |
Diarrea tipo 6 | Gen NGS | GUCY2C |
Disautonomía familiar (Síndrome de... | Gen NGS | IKBKAP |
Discapacidad intelectual con retraso en el... | Gen NGS | FOXP1 |
Discinesia familiar y mioquimia facial | Gen NGS | ADCY5 |
Discinesia paroxistina no cinesigenica | Gen NGS | MR1 |
Discondrosteosis de Leri-Weill (LWD) | Gen NGS | SHOX |
Disfunción Inmune - Poliendocrinopatía -... | Gen NGS | FOXP3 |
Disgenesia gonadal | Exoma Dirigido | SRY, NR5A1, DHH |
Disgenesia Gonadal 46 XY | Gen NGS | DHH |
Disgenesia gonadal 46, XY | Gen NGS | SRY |
Disgenesia reticular | Gen NGS | AK2 |
Dishormonogénesis tiroidea familiar tipo 2A | Gen NGS | TPO |
Paneles de Enfermedades Mitocondriales