Acute Intermittent Porphyria (HMBS ) Gene Panel by NGS, EDTA Blood**

Acute Intermittent Porphyria (HMBS) - Gene Analysis Overview

Acute intermittent porphyria HMBS gene analysis is a genetic test that examines the hydroxymethylbilane synthase (HMBS) gene to identify mutations responsible for causing acute intermittent porphyria (AIP). AIP is an autosomal dominant genetic disorder characterised by a partial deficiency of the HMBS enzyme, which plays a crucial role in the heme biosynthesis pathway. The HMBS gene, located on chromosome 11q23.3, consists of 14 exons and encodes 361 amino acids.

Mutations in the HMBS gene lead to the accumulation of heme precursors such as δ-aminolevulinic acid (δ-ALA) and porphobilinogen (PBG), resulting in various clinical symptoms associated with AIP. 

The acute intermittent porphyria HMBS gene analysis is essential for confirming the diagnosis of AIP, identifying carriers within families, and guiding genetic counselling and management strategies for individuals affected by this disorder.

Your body produces a chemical called HMBS, crucial for normal cell function. Mutations in the HMBS gene can lead to Acute Intermittent Porphyria (AIP). This condition disrupts haemoglobin production, causing a build-up of porphyrins. Porphyrins are essential for haemoglobin synthesis and play a role in oxygen transport.