Invitae Acute Hepatic Porphyrias Panel
Use
The Invitae Acute Hepatic Porphyrias panel analyzes up to 4 genes associated with acute hepatic porphyria, which includes delta aminolevulinic acid dehydratase deficiency porphyria, hereditary coproporphyria, acute intermittent porphyria, and variegate porphyria. This panel is useful for individuals showing signs and symptoms of acute hepatic porphyria, with or without cutaneous manifestations, or those suspected of porphyria due to abnormal porphyrin excretion. Genetic testing can confirm diagnosis, guide treatment and management, identify at-risk family members, and facilitate clinical trial enrollment. The panel analyzes ALAD, CPOX, HMBS, and PPOX genes.
Special Instructions
Contact Client Services for questions. Please note that the panel does not include testing for specific types of porphyria such as XLP, EPP, EPP2, PCT, CEP, and HEP. Genes cannot be combined with others at this time.
Limitations
The assay achieves >99% analytical sensitivity and specificity for SNVs, insertions, and deletions <15bp, and exon-level deletions and duplications. Larger indels and certain structural variants or complex sequences may have reduced sensitivity. Variants outside the covered regions, as well as some specific variant types, may not be detected. Coverage details and limitations are specified in the test definition on the website. Consult client services for any questions on limitations.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)