Sickle Cell Analysis

TEST: 484361
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CPT: 81361
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Synonyms

  • Sickle cell disease; hemoglobin SC disease

Test Includes

This test includes the following gene: HBB.

Expected Turnaround Time

8 - 14 days

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 carrier screening or diagnostic testing and DNA analysis to detect variants known to cause sickle cell disease and hemoglobin SC disease.

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

HbS (c.20A>T, p.Glu7Val) and HbC (c.19G>A, p.Glu7Lys) pathogenic variants are identified by Sanger sequencing, capillary gel electrophoresis and fluorescence detection.

References

Bender MA, Carlberg K; Adam MP, Ardinger HH, Pagon RA, et al., eds. Sickle Cell Disease. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2003 Sep 15 [updated 2023 Dec 28].20301551

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The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf