Product | Type of test | Genes |
---|---|---|
Diarrhea congenital | Targeted Exome | EPCAM, SLC26A3, MYO5B, SPINT2, NEUROG3, GUCY2C ,DGAT1 |
Familial Hypercholesterolemia | Gene NGS | LDLR |
Hipotiroidismo congénito sin bocio | Detección de deleciones/duplicaciones | False |
Neurofibromatosis, type 1 | Detección de deleciones/duplicaciones | NF1 |
Usher syndrome type IIA | Detección de deleciones/duplicaciones | USH2A |
11-beta-hydroxysteroid dehydrogenase | Gene NGS | HSD11B2 |
17-alpha-hydroxylase deficiency | Gene NGS | CYP17A1 |
22q11.2 microdeletion | Gene NGS | Región genómica22q11.2 |
3-hydroxyacyl-CoA dehydrogenase deficiency | Gene NGS | HADH |
3-M syndrome 2 | Gene NGS | OBSL1 |
3-Methylcrotonyl-CoA carboxylase deficiency | Gene NGS | MCCC1 / MCCA |
3MC syndrome | Gene NGS | MASP1, COLEC11 |
46XY partial gonadal dysgenesis | Gene NGS | DHH |
46XY partial gonadal dysgenesis | Gene NGS | SRY |
Aarskog-Scott syndrome | Gene NGS | FGD1 |
Abetalipoproteinemia | Gene NGS | MTTP |