Severe Combined Immunodeficiency (SCID): IL2RG for XSCID (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of SCID; detect carriers; allow early diagnosis in family members
Special Instructions
Physicians should ensure informed consent is obtained and documented when ordering this genetic test. For cases involving known mutations, it is recommended to order test 252694. Other family members should be tested for specific mutations found in the index case after confirming it at LabCorp.
Limitations
This DNA sequencing method cannot reliably identify mosaic variants, large deletions, large duplications, inversions, or deep intronic variants. It may face challenges such as allele dropout, possibly misinterpreting T/A or microsatellite repeats and it doesn't determine if two heterozygous variants are in cis or trans configuration.
Methodology
NGS
Biomarkers
LOINC Codes
- 41103-3
- 41103-3
Result Turnaround Time
28-35 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