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Pour les horaires, les examens sans rendez-vous ou avec rendez-vous.Synonyms
- Transthyretin amyloidosis
Special Instructions
In cases in which there is a known variant documented in the family, the physician may prefer to order GeneSeq® Cardio Targeted Variant Analysis [485208].
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.
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In cases in which there is a known variant documented in the family, the physician may prefer to order Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. |
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In cases in which there is a known variant documented in the family, the physician may prefer to order GeneSeq® Cardio Targeted Variant Analysis [485208]. Test orders must include an attestation that the provider has the patient's informed 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.
Related Documents
For more information, please review the literature below.
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 diagnostic testing for transthyretin amyloidosis and presymptomatic testing for family members.
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 genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
References
Rehder C, Bean LJH, Bick D, et al. Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Aug;23(8):1399-1415.33927380
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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