Get Mount Sinai Genetic Testing Laboratory Porphyria Dna Testing Form

23andme does not specifically test for porphyria. While it provides insights into various genetic traits and conditions, it does not offer a focused analysis on porphyria-related genes. For a comprehensive evaluation, consider using the Mount Sinai Genetic Testing Laboratory Porphyria DNA Testing Form, which is designed to identify specific genetic variations associated with porphyria.

Mutation analysis of genes encoding UROD is considered the criterion standard for diagnosis of familial porphyria cutanea tarda. It is most often available at specialized porphyria research centers and is commercially available in the United States.

Porphobilinogen. PBG measurement is the initial test recommended when AIP, HCP, or VP is suspected on the basis of clinical symptoms, particularly during an acute attack. If PBG is increased, acute porphyria is diagnosed and treatment should begin immediately.

The specific names of the eight types of porphyrias are: Delta-aminolevulinate-dehydratase deficiency porphyria. Acute intermittent porphyria. Hereditary coproporphyria. Variegate porphyria. Congenital erythropoietic porphyria. Porphyria cutanea tarda. Hepatoerythropoietic porphyria. Erythropoietic protoporphyria.

Lab tests are required to make a definitive diagnosis of porphyria and to determine which form of the disease you have. Different tests are performed depending on the type of porphyria your doctor suspects. Tests include a combination of blood, urine or stool testing.

In contrast, DNA testing is the most accurate and reliable method for determining if a person has a specific Porphyria and is considered the "gold standard" for the diagnosis of genetic disorders.

The diagnosis of acute intermittent porphyria results from finding elevated PBG in urine in a random sample kept protected from light. Diagnostic confirmation should include quantitative measurement of PBG, ALA, and total porphyrins from the same urine sample.

Laboratory Studies A spot urine test for porphobilinogen can rapidly provide the diagnosis; these tests detect porphobilinogen at levels greater than 6 mg/L. A common error is to order a urine porphyrin screen.

Each form of porphyria results from mutations in one of these genes: ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, or UROS.