Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Molecular Genetics Laboratory Acute Intermittent Porphyria

Acute Intermittent Porphyria

Test Description:
AIP is a deficiency of the enzyme hydroxymethylbilane synthase (also known as porphobilinogen deaminase), due to a mutation, or change, in the HMBS gene. The disorder is autosomal dominant. The enzyme deficiency alone is not sufficient to produce the symptoms of AIP, and other activating factors, such as drugs, hormones, and dietary changes, must be present. Sometimes activating factors cannot be identified. Most people who have a mutation in the gene for AIP never develop symptoms; this is referred to as “latent” AIP. Symptoms may develop after puberty, especially in women.

Acute attacks almost always start with severe pain in the abdomen but sometimes in the chest, back, or thighs, and are often accompanied by nausea, vomiting, and constipation. Heart rate and blood pressure are commonly increased. These symptoms and signs are all due to the effects of the disease on the nervous system. Confusion, convulsions, and muscular weakness, due to impairment of the nerves controlling the muscles, may lead to paralysis. An acute attack usually lasts for days or weeks. Recovery from severe paralysis is generally slow.

DNA analysis of the HMBS gene is performed by full gene sequencing of all exons (coding regions), 20-30 base pairs into the introns (including splice sites), and the promoter region. This methodology should identify >99% of mutations listed in the Human Gene Mutation Database as well as novel mutations.

Specimen Requirements: Two 10 mL EDTA (lavendar top) tubes and one 10 mL ACD (yellow top) tube. Two to three confluent T-25 flasks of cultured cells and one control flask are required for prenatal samples.

Shipping: Ship at room temperature.

Turnaround Time: 14 days

CPT Codes: 83891, 83898x6, 83904x8, 83912

Consent Form: Porphyria Genetic Testing Consent [PDF]

Requisition Form: Porphyria Testing Requisition [PDF]

Related Tests: Acute Porphyrias Panel (AIP, HCP & VP)

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.