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Acute Porphyria, Multi-Gene Panel
MessageThis test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.
Test Code
ACUTE PORPHYRIA(O)
Alias/See Also
Acute Intermittant Porphyria, Variegate Porphyria, Hereditary Coproprophyria
Preferred Specimen
Whole blood lavender EDTA
Minimum Volume
3 mL
Transport Temperature
Room temperature
Methodology
Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing
Report Available
14 to 20 days
Reference Range
Provided with patient report in CPRS.
Clinical Significance
Useful for: Confirmation of acute porphyria for patients with clinical features of the disease.
Clinical Information: Acute porphyria is caused by autosomal dominant mutations in 1 of 3 genes: HMBS, associated with acute intermittent porphyria (AIP); CPOX, associated with hereditary coproporphyria (HCP); and PPOX, associated with variegate porphyria (VP). Mutations in these genes show incomplete penetrance, and patients with a confirmed deleterious mutation may be asymptomatic.
Clinical Information: Acute porphyria is caused by autosomal dominant mutations in 1 of 3 genes: HMBS, associated with acute intermittent porphyria (AIP); CPOX, associated with hereditary coproporphyria (HCP); and PPOX, associated with variegate porphyria (VP). Mutations in these genes show incomplete penetrance, and patients with a confirmed deleterious mutation may be asymptomatic.
Performing Laboratory
Mayo Clinic
Additional Information
Link to test information on Mayo Clinic website
Last Updated: October 28, 2015
