Wilson Disease / Hepatolenticular Degeneration via the ATP7B Gene
Use
This test is designed for individuals who have clinical features or a suspected diagnosis of Wilson disease. It may also be of use to reproductive partners of individuals with a known pathogenic variant in the ATP7B gene, aiding in family planning and variant confirmation.
Special Instructions
Consultation with healthcare professionals is advised for the interpretation of test results. Genetic counseling is recommended before and after testing to understand the implications. This test is not approved by the FDA but is conducted in compliance with CAP and CLIA regulations.
Limitations
The test does not detect all possible mutations in the ATP7B gene. It primarily focuses on known pathogenic variants and may not identify novel alterations or those present in non-coding regions. False negatives or ambiguous findings can occur if the genetic mutation is rare or not covered by the genomic panel used.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided