Product | Type of test | Genes |
---|---|---|
Dystonia-11, myoclonic | Gene NGS | SGCE |
Dystonia-11, myoclonic | Gene NGS | DRD2 |
Dystonia-16 | Gene NGS | PRKRA |
Dystonia-5 | Gene NGS | GCH1 |
Early epileptic encephalopathies | Gene NGS | STXBP1, SCN8A |
Early epileptic encephalopathies | Gene NGS | SCN8A,SCL2A1 |
Early-onset torsion dystonia | Gene NGS | DYT1 |
Ectodermal dysplasia 1, hypohidrotic,... | Gene NGS | EDA |
Ectodermal dysplasia 10A,... | Gene NGS | EDAR |
Ectodermal dysplasia 11B,... | Gene NGS | EDARADD |
Ectodermal dysplasia 2, Clouston type | Gene NGS | GJB6 (Conexina 30) |
Ectodermal dysplasia, ectrodactyly, and... | Gene NGS | CDH3 |
Ectopia lentis, familial | Gene NGS | FBN1 |
Ectrodactyly, ectodermal dysplasia, and... | Gene NGS | TP63 |
Ehlers-Danlos syndrome | Targeted Exome | ADAMTS2, B4GALT7, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469. |
Ehlers-Danlos syndrome type I | Gene NGS | COL5A1 |