Acute Porphyria Gene Panel, Varies
Use
This test is used for establishing a molecular diagnosis for patients with acute porphyria. It helps in identifying variants within genes known to be associated with acute porphyria, which is crucial for predictive testing of at-risk family members. The detection of a disease-causing variant aids in diagnosis, prognosis, clinical management, familial screening, and genetic counseling for acute porphyria.
Special Instructions
When analyzing prenatal specimens (amniotic fluid, chorionic villi), additional culture tests will be performed with an extra charge if necessary. Similarly, for skin biopsy or cultured fibroblast specimens, fibroblast culture testing will be performed with an additional charge if viable cells are not obtained. For cord blood specimens with an accompanying maternal blood specimen, maternal cell contamination studies will be performed at an additional charge.
Limitations
The test is designed to detect single nucleotide and copy number variants in the specified genes associated with acute porphyria. It relies on next-generation sequencing combined with PCR and Sanger sequencing to identify these genetic variations. However, the test is dependent on the quality and integrity of the specimen received. In cases where culture or contamination issues arise, there may be additional charges or the need for re-sampling.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided