Severe Combined Immunodeficiency (SCID): CD3E (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of SCID; detect carriers; allow early diagnosis in family members
Special Instructions
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. In the case of family tests (e.g., known mutations), submit the result report of the index case if available. For more information, see the Informed Consent for Genetic Testing in the Related Documents section.
Limitations
This method does not reliably detect mosaic variants, large deletions, duplications, inversions, or other structural rearrangements. It is also not effective for detecting deep intronic variants, allele dropout, or determining T/A or microsatellite repeat numbers. It may not indicate whether two heterozygous variants occur on the same or different chromosome copies.
Methodology
NGS
Biomarkers
LOINC Codes
- 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