GeneSeq® PLUS, ATP7B
Also known as: Wilson disease
Use
This test is used for carrier and diagnostic testing for Wilson disease.
Special Instructions
Not provided.
Limitations
The technologies used in this test do not detect germline mosaicism and cannot rule out the presence of large chromosomal aberrations, including rearrangements and gene fusions. Variants in regions or genes not included in this test, as well as inter/intragenic interactions between variants or repeat expansions, are not detected. The variant classification and/or interpretation may change over time as more information becomes available. False positive or negative results may occur due to factors such as rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 95781-1 - ATP7B gene Full Mut Anl Bld/T Seq
- 19102-3 - Genetic scn Spec
- 42784-9 - Ethnic Background Stated
- 31208-2 - Specimen source
- 89993-0 - Clinical genetics Counseling note
- 42349-1
- 95781-1 - ATP7B gene Full Mut Anl Bld/T Seq
- 53039-4 - Gene dis anl carrier interp-Imp
- 8262-8 - Service Cmnt 02-Imp
- 62385-0 - Recommendation Patient Doc-Imp
- 55752-0 - Clinical info
- 8251-1 - Service Cmnt-Imp
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
- 51969-4 - Gene analysis narr rpt Doc
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
8.5 mL whole blood
Minimum Volume
3 mL whole blood
Container
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy; follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to collection.
Patient Preparation
Do not eat, drink, smoke or chew gum 30 minutes prior to collection.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days at 4°C |
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