Casandra
Casandra Test Code PG68510Version 1 (DRAFT)
Performing Lab
Wilson Disease / Hepatolenticular Degeneration via the ATP7B Gene
Clinical Use
Order TestUse
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
Not provided.
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.
Test Details
Methodology
NGS (Targeted)
Biomarkers
ATP7B
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided