Porphyria Comprehensive Gene Panel, Varies
Use
This test is useful for following up abnormal biochemical results suggestive of porphyria and establishing a molecular diagnosis for patients with porphyria. It helps in identifying variants within genes associated with porphyria, which allows for predictive testing of at-risk family members. Identification of a disease-causing variant can aid in diagnosis, prognosis, clinical management, familial screening, and genetic counseling for porphyria.
Special Instructions
For skin biopsy or cultured fibroblast specimens, a fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified. For amniotic fluid or cultured amniocytes, an amniotic fluid culture will be performed at an additional charge. For any prenatal specimens, maternal cell contamination testing will be performed at an additional charge. For cord blood specimens accompanying maternal blood specimens, maternal cell contamination studies will be performed at an additional charge.
Limitations
The test uses next-generation sequencing to detect single nucleotide and copy number variants in 11 genes associated with porphyria. Positive results should be considered in combination with clinical findings and family studies. Variants that are benign or of uncertain significance may be detected and may not be informative for diagnosis. The biochemical testing approach for porphyria diagnosis is most effective when done in conjunction with clinical evaluation and other biochemical tests.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Tissue (Unknown)
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
For skin biopsy or cultured fibroblast specimens, culture will be performed at an additional charge.