Hyper-IgM Syndrome (HIGM): (AICDA for HIGM2) (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of HIGM; detect carriers; allow early diagnosis in family members, guiding prophylactic measures
Special Instructions
In cases where a known mutation can be documented, the physician may prefer to order test 252663. Samples may be stored briefly at 4°C and should be shipped overnight at room temperature.
Limitations
This DNA sequencing method does not reliably detect mosaic variants, large deletions, large duplications, inversions, or other rearrangements. It is also limited in detecting deep intronic variants. The method may be affected by allele-dropout and does not reliably allow determination of the exact numbers of T/A or microsatellite repeats. It also does not provide information on whether two heterozygous variants are on the same or different chromosome copies.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 41103-3
- 41103-3
Result Turnaround Time
18-35 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