ATP7B Comprehensive - Sequence & Deletion/Duplication Analysis
Use
The ATP7B Comprehensive - Sequence & Deletion/Duplication Analysis aims to identify pathogenic variants linked to Wilson disease, a genetic disorder affecting copper metabolism, chiefly impacting the liver, brain, and eyes. This condition can lead to severe liver disease, motor control difficulties, and psychiatric or behavioral issues. Key features include Kayser-Fleischer rings in the cornea, prevalent in affected individuals. Age of onset varies between 3 and 50 years. Lifelong treatment options include copper-chelating agents or zinc, which may alleviate symptoms and preserve normal life expectancy when managed effectively. With appropriate treatment, intelligence remains unaffected.
Special Instructions
Testing is recommended for individuals with clinical signs of Wilson disease or those considering pregnancy for carrier screening. It includes both sequence analysis and deletion/duplication analysis using a customized gene-centric microarray, optimizing the identification of variants associated with the disease. Draw blood in an EDTA tube and ensure it is shipped at room temperature within 48 hours, without freezing. Further consultation and specific instructions may be required based on individual cases, so it’s essential to connect with a healthcare provider.
Limitations
This analysis is not a definitive diagnostic tool for Wilson disease. While it can identify known pathogenic variants effectively, not all genetic variations may be detected, particularly if they reside in areas not covered by the gene profiling. Furthermore, a negative result does not eliminate the possibility of Wilson disease, primarily because other genetic mechanisms or variations might be outside the tested scope. Interpretation of the results should always be conducted in conjunction with a clinical evaluation and family history analysis. Additional testing may be required for comprehensive assessment.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
3-5 cc (Adults/Children) and 3 cc (Infant<2yrs)
Minimum Volume
3 cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s).
Storage Instructions
Ship the sample at room temperature.
Causes for Rejection
Specimen cannot be frozen.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
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