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
Not provided.
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
CYBB
Gene
LOINC Codes
- 48734-8 - CYBB gene Mut Anl Bld/T
- 48734-8 - CYBB gene Mut Anl Bld/T
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
Other tests from different labs that may be relevant