Product | Type of test | Genes |
---|---|---|
Holoprosencephaly 2 | Gene NGS | SIX3 |
Holoprosencephaly 3 | Gene NGS | SHH |
Holoprosencephaly 4 | Gene NGS | TGIF |
Holoprosencephaly 5 | Gene NGS | ZIC2 |
Holoprosencephaly 8 | Gene NGS | FGF8 |
Holoprosencephaly 9 | Gene NGS | GLI2 |
Holt-Oram syndrome | Gene NGS | TBX5 |
Homocystinuria due to MTHFR deficiency | Gene NGS | MTHFR |
Huntington chorea | Detection of expansions | HTT |
Huntington disease-like 1 | Gene NGS | PRNP |
Hyaline fibromatosis syndrome | Gene NGS | ANTXR2 |
Hypercholesterolemia | NGS Panel | APOB, LDLR, PCSK9, GHR, LDRAP1 |
Hypercholesterolemia 3 | Gene NGS | PCSK9 |
Hypercholesterolemia familial | Gene NGS | LDLRAP1 |
Hyperekplexia 3 (HKPX3) | Gene NGS | SLC6A5 |
Hyperferritinemia-cataract syndrome | Gene NGS | FTL |