Hypohidrotic Ectodermal Dysplasia With Immune Deficiency (HED-ID): IKBKG (NEMO) (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of HED-ID; detect carriers; allow early diagnosis in family members, guiding prophylactic measures
Special Instructions
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. Physicians may prefer to order test 252744 if a known mutation can be documented.
Limitations
This method does not reliably detect mosaic variants; large deletions; large duplications, inversions or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 57753-6
- 57753-6
Result Turnaround Time
25-32 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