Synonyms
- Family testing
- Known variant analysis
- Mutation specific sequencing
- MUTSEQ
Test Includes
This test includes all genes included in any Inheritest® panel except CYP21A2, FMR1, HBA1/HBA2 and SMN1.
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This test includes all genes included in any Inheritest® |
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This test includes all genes included in any Inheritest® panel except CYP21A2, FMR1, HBA1/HBA2 and SMN1. |
Special Instructions
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 800-255-7357 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.
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing.
Expected 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.
Specimen Requirements
Specimen
Whole blood or PurFlock buccal swab kit or Oragene Dx 500 saliva kit
Volume
8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit
Minimum Volume
3 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit
Container
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit
Collection
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.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Stability Requirements
Whole blood: 14 days at room temperature or 30 days at 4°C
Buccal: 60 days at room temperature
Saliva: 60 days at room temperature
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Test Details
Use
This test is used for testing for a known variant documented in the family and is available only for genes included in Inheritest® panels.
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This test is used for testing for a known variant documented in the family and is available only for genes included in Inheritest® |
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This test is used for testing for a known variant documented in the family and is available only for genes included in Inheritest® panels. panels. |
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.
Methodology
Next Generation Sequencing: Identifies known, familial genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
References
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424.25741868
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