Hyper-IgM Syndrome (HIGM): (CD40LG [TNFSF5] for HIGM1) (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of HIGM; detect carriers; allow early diagnosis in family members, guiding prophylactic measures
Special Instructions
Not provided.
Limitations
This DNA sequencing method does not reliably detect mosaic variants, large deletions, large duplications, inversions, or other rearrangements, nor deep intronic variants. It may be affected by allele-dropout, and will not allow determination of the exact number of T/A repeats or microsatellite repeats. It does not enable conclusions regarding whether two heterozygous variants are present on the same or on different chromosome copies.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 41103-3 - Gene XXX Mut Anl Bld/T
- 41103-3 - Gene XXX Mut Anl Bld/T
Result Turnaround Time
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; use of improper anticoagulant
Other tests from different labs that may be relevant