| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Porphyrias are a group of metabolic disorders caused by defects in the heme biosynthetic pathway, a disruption that causes enzymatic deficiencies. These deficiencies result in a spectrum of symptoms, including abdominal pain, weakness, neuropathy, seizures, anxiety, cutaneous photosensitivity, and many others. Unlike most other metabolic disorders, external factors can upregulate the heme biosynthetic pathway and exacerbate symptoms. These disorders are classified into cutaneous and acute categories.
Because specific medications are contraindicated as they upregulate the heme biosynthetic pathway, accurate diagnosis of porphyrias is important. In addition to guiding treatment selection, diagnosis can support lifestyle modifications and help other family members understand their risk for the illness.
Our comprehensive menu of genetic testing for porphyrias includes biochemical assays that can assist in diagnosis and differentiation and help guide treatment decisions. In addition, molecular genetic testing for the porphyrias is available through our custom gene ordering tool.
Porphyrias test menu
Including acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and aminolevulinic dehydratase deficiency porphyria (ALAD), acute hepatic porphyrias are clinically similar. Patients affected by HCP and VP can also experience skin sun-sensitivity. Porphyrin profiles and molecular testing can assist in distinguishing one type from another.
Biochemical testing
Molecular testing
Among cutaneous porphyrias, the most common form is porphyria cutanea tarda (PCT), which is oftentimes environmentally induced. Congenital erythropoietic porphyria (CEP), erythropoietic protoporphyria (EPP), and X-linked protoporphyria (XLDPP) are other forms of cutaneous porphyria. These conditions are associated with cutaneous involvement, such as chronic blistering from sun or mild trauma (PCT and CEP) or non-blistering, painful photosensitivity (EPP and XLDPP) and hepatic involvement.
Biochemical testing
Molecular testing
Our custom gene ordering allows the creation of a custom gene list to tailor molecular testing to a patient’s exact need. After selection of the inborn errors of metabolism disease state, the custom gene panel can be modified to add or remove genes. Through this option, single-gene testing or a custom gene panel can be performed.
Key testing