Wilson Disease (ATP7B) Sequencing
Also known as: ATP7B NGS
Use
Wilson Disease (ATP7B) Sequencing is a genetic test designed for the confirmation of Wilson disease or determination of carrier status. Wilson disease is a disorder of copper metabolism caused by pathogenic variants in the ATP7B gene, leading to toxic accumulation of copper in body tissues, particularly affecting the liver and central nervous system. This test detects variants associated with Wilson disease, providing clinically relevant information for affected individuals and carriers to guide medical management and genetic counseling.
Special Instructions
Informed consent is required for genetic testing, especially for New York state patients. Specimens from New York clients will be sent to a New York state-approved laboratory. The test requires submission of a Wilson Disease (ATP7B) Testing Patient History Form.
Limitations
This test only detects variants within the coding regions and intron-exon boundaries of the ATP7B gene. Regulatory region variants, deep intronic variants, and the Sardinian founder variant, c.-436_-422del15, will not be identified. The test does not perform deletion/duplication analysis and may be affected by technical limitations such as pseudogenes or homologous regions. It is not intended to detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA mutations, or repeat expansions.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated.
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |