HEREDITARY PORPHYRIAS: CLINICAL EXOME PANEL (Sec. & CNVs) – 11 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Hereditary Porphyrias panel analyzes 11 genes involved in congenital disorders of heme biosynthesis, a group of metabolic diseases that cause the accumulation of porphyrin precursors and lead to neurovisceral crises, photosensitivity, liver abnormalities, or hemolytic anemia, depending on the type of porphyria. It includes genes related to the main clinical forms: HMBS (acute intermittent porphyria), PPOX (variegate porphyria), CPOX (hereditary coproporphyria), UROD (porphyria cutanea tarda), UROS (congenital erythropoietic porphyria), and FECH (erythropoietic protoporphyria). In addition, ALAD and ALAS2 are implicated in specific hepatic or erythropoietic forms. Next-generation sequencing (NGS) allows for the identification of pathogenic variants responsible for the different porphyrias, facilitating accurate diagnosis and clinical guidance. Some of the genes included in this panel are: HMBS, PPOX, CPOX, UROD, UROS, FECH, and ALAS2. You can consult the complete list of genes by contacting Genotica.
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