Autoinflammatory Disorders Gene Panel, Varies
Use
This test is useful for providing a comprehensive genetic evaluation for patients with symptoms suggestive of inherited autoinflammatory disorders. It aids in establishing a diagnosis of monogenic autoinflammatory disorder, enabling appropriate management and surveillance based on the gene or variant involved. Additionally, it helps in identifying variants within genes associated with autoinflammatory disorders, facilitating predictive testing for at-risk family members.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all genomic variants. False negatives or positives can occur. There are regions of genes that may not be effectively evaluated due to technical limitations such as homology or high GC content. Negative results do not exclude the presence of a genetic disorder. This test cannot effectively differentiate between somatic mutations and germline variants if mosaicism is suspected. If a patient has had a stem cell transplant, results may be inaccurate due to donor DNA presence.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 107548-0 - Autoinflam dis multi anl Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in the original tube. Do not aliquot.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |