Chronic Granulomatous Disease (CGD): CYBB (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of CGD; detect carriers; allow early diagnosis in family members, guiding prophylactic measures
Special Instructions
In cases where a known mutation can be documented, it is recommended to order test 252733 instead. Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. In the case of family tests (i.e., known mutations), submit the result report of the first patient tested in the family, if not performed at a LabCorp facility.
Limitations
The DNA sequencing method used may not reliably detect mosaic variants, large deletions, large duplications, inversions, deep intronic variants, or other rearrangements. The method may be affected by allele-dropout and may not allow determination of the exact numbers of T/A or microsatellite repeats. It cannot conclude whether two heterozygous variants are present on the same or on different chromosome copies. This test has not been cleared or approved by the FDA.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 48734-8
- 48734-8
Result Turnaround Time
21-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
Not provided
Container
Lavender-top (EDTA) tube
Collection Instructions
Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled or label not legible; improper anticoagulant