Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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Follow up for abnormal biochemical results suggestive of porphyria
Establishing a molecular diagnosis for patients with porphyria
Identifying variants within genes known to be associated with porphyria, allowing for predictive testing of at-risk family members
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 11 genes associated with porphyria: ALAD, ALAS2, CLPX, CPOX, FECH, GATA1, HFE, HMBS, PPOX, UROD, UROS. See Targeted Genes and Methodology Details for Porphyria Comprehensive Gene Panel in Special Instructions and Method Description for additional details.
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for porphyria.
The biochemical testing approach for diagnosis of patients with a suspected porphyria is most effective when done in a thoughtful manner. For recommendations for first-tier biochemical testing, see Porphyria (Acute) Testing Algorithm and Porphyria (Cutaneous) Testing Algorithm in Special Instructions.
The following algorithms are available in Special Instructions:
Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing