List of diseases covered by
Porphyria NGS panel
Gene | Condition |
ALAD | Porphyria, acute hepatic |
ALAS2 | Protoporphyria, erythropoietic, X-linked; Anemia, sideroblastic, 1 |
CPOX | Coproporphyria |
FECH | Protoporphyria, erythropoietic, 1 |
HFE | Hemochromatosis; Porphyria cutanea tarda, susceptibility to; Porphyria variegata, susceptibility to |
HMBS | Porphyria, acute intermittent |
PPOX | Porphyria variegata |
UROD | Porphyria cutanea tarda |
UROS | Porphyria, congenital erythropoietic |