Test Details
Methodology
Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs)
Result Turnaround Time
14 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Test Includes
This test includes all genes included in any GeneSeq® Immuno panel.
Use
This testing is for a known variant documented in the family and is available only for genes included in GeneSeq® Immuno panels.
Special Instructions
This test currently is not approved for use in New York state.
The specific gene and variant(s) to be analyzed must be indicated on the test requisition form. Failure to indicate the gene and variant will result in testing delays. Please include a copy of the previously tested family member's laboratory report for documentation.
Please call 800-345-4363 to speak with a laboratory genetic coordinator before submitting specimens for targeted variant analysis. If previous testing was performed at an outside laboratory, submitting a positive control sample is highly recommended.
To test fetal specimens, including cord blood, order GeneSeq® Immuno: Targeted Variant, Fetal Analysis [483083].
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.
Limitations
Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations, including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions. Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Specimen Requirements
Specimen
Whole blood or PurFlock buccal swab kit or Oragene Dx 500 saliva kit
Volume
4 mL whole blood or PurFlock buccal swab kit or Oragene Dx 500 saliva kit
Minimum Volume
3 mL whole blood or PurFlock buccal swab kit or Oragene Dx 500 saliva kit
Container
Lavender-top (EDTA) tube or yellow-top (ACD-A) tube or PurFlock buccal swab kit or Oragene Dx 500 saliva kit
Collection Instructions
Standard phlebotomy; follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to collection.
Stability Requirements
| Temperature | Period |
|---|---|
| Room temperature | Whole blood: 14 days; buccal swab: 60 days; saliva: 60 days |
| Refrigerated | Whole blood: 30 days; buccal swab: unstable; saliva: unstable |
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
References
Tangye SG, Al-Herz W, Bousfiha A, et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022 Oct;42(7):1473-1507. PubMed 35748970
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 484069 | PIDD Targeted Variant | 484070 | Specimen Type | Pending | ||
| 484069 | PIDD Targeted Variant | 484072 | Indication | Pending | ||
| 484069 | PIDD Targeted Variant | 484073 | Result | Pending | ||
| 484069 | PIDD Targeted Variant | 484074 | Interpretation | Pending | ||
| 484069 | PIDD Targeted Variant | 484075 | Recommendations | Pending | ||
| 484069 | PIDD Targeted Variant | 484076 | Clinical Information | Pending | ||
| 484069 | PIDD Targeted Variant | 484077 | Comments | Pending | ||
| 484069 | PIDD Targeted Variant | 484078 | Methods/Limitations | Pending | ||
| 484069 | PIDD Targeted Variant | 484079 | References | Pending | ||
| 484069 | PIDD Targeted Variant | 484080 | Director Review/Release | Pending | ||
| 484069 | PIDD Targeted Variant | 484081 | IMAGE | Pending | ||
| Order Code | 484069 | |||||
| Order Code Name | PIDD Targeted Variant | |||||
| Order Loinc | ||||||
| Result Code | 484070 | |||||
| Result Code Name | Specimen Type | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 484069 | |||||
| Order Code Name | PIDD Targeted Variant | |||||
| Order Loinc | ||||||
| Result Code | 484072 | |||||
| Result Code Name | Indication | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 484069 | |||||
| Order Code Name | PIDD Targeted Variant | |||||
| Order Loinc | ||||||
| Result Code | 484073 | |||||
| Result Code Name | Result | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 484069 | |||||
| Order Code Name | PIDD Targeted Variant | |||||
| Order Loinc | ||||||
| Result Code | 484074 | |||||
| Result Code Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 484069 | |||||
| Order Code Name | PIDD Targeted Variant | |||||
| Order Loinc | ||||||
| Result Code | 484075 | |||||
| Result Code Name | Recommendations | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 484069 | |||||
| Order Code Name | PIDD Targeted Variant | |||||
| Order Loinc | ||||||
| Result Code | 484076 | |||||
| Result Code Name | Clinical Information | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 484069 | |||||
| Order Code Name | PIDD Targeted Variant | |||||
| Order Loinc | ||||||
| Result Code | 484077 | |||||
| Result Code Name | Comments | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 484069 | |||||
| Order Code Name | PIDD Targeted Variant | |||||
| Order Loinc | ||||||
| Result Code | 484078 | |||||
| Result Code Name | Methods/Limitations | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 484069 | |||||
| Order Code Name | PIDD Targeted Variant | |||||
| Order Loinc | ||||||
| Result Code | 484079 | |||||
| Result Code Name | References | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 484069 | |||||
| Order Code Name | PIDD Targeted Variant | |||||
| Order Loinc | ||||||
| Result Code | 484080 | |||||
| Result Code Name | Director Review/Release | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 484069 | |||||
| Order Code Name | PIDD Targeted Variant | |||||
| Order Loinc | ||||||
| Result Code | 484081 | |||||
| Result Code Name | IMAGE | |||||
| UofM | ||||||
| Result LOINC | Pending |