Hypohidrotic Ectodermal Dysplasia With Immune Deficiency (HED‑ID): IKBKG (NEMO) (Known Mutation)
Use
This genetic test option is intended for confirming a previously identified pathogenic variant in the IKBKG (also known as NEMO) gene associated with Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED‑ID). It is used when the specific mutation is already known and documented by the ordering physician, enabling targeted familial testing for the presence of that mutation.
Special Instructions
This test is available when the mutation is known and documented by the ordering physician. If the mutation cannot be documented, labs should instead order test 252539. Orders must include an attestation that the provider has obtained the patient’s informed consent for genetic testing; sample physician office consent form is available. For family members tested for a known mutation, submit the index case result report if it was not performed by LabCorp.
Limitations
Not provided.
Methodology
NGS
Biomarkers
LOINC Codes
- 57753-6
- 57753-6
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided