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
Not provided.
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
IL2RG
Gene
LOINC Codes
- 41103-3 - Gene XXX Mut Anl Bld/T
- 41103-3 - Gene XXX Mut Anl Bld/T
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
Other tests from different labs that may be relevant