Sickle Cell, Fetal Analysis

CPT: 81361
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Synonyms

  • Sickle cell disease; hemoglobin SC disease

Test Includes

This test includes the following gene: HBB.


Special Instructions

This test is for fetal testing only. It is not intended for routine sickle cell screening. Labcorp clients with 8-digit client account numbers should call 800-345-4363 and Labcorp Genetics & Women's Health clients with 6-digit client/subclient account numbers should call 800-255-7357 to speak with a laboratory genetic coordinator before collecting specimens. In some circumstances, specimens from both parents and other family members may be required. All fetal specimens, including cord blood, must be accompanied by a maternal blood, PurFlock buccal swab kit or Oragene Dx 500 saliva kit for maternal cell contamination (MCC). A separate requisition should be submitted with the maternal specimen.


Expected Turnaround Time

8 - 14 days (If culture is needed, an additional 14 - 21 days may be required. Additional culture fee may be applied.)


Specimen Requirements


Specimen

Amniotic fluid or chorionic villus sample (CVS) or cultured cells or cord blood (Direct amniotic fluid or CVS specimen may be submitted; additional culture fee may be applied.)


Volume

Amniotic fluid: 10 mL; CVS: 10 mg; amniotic fluid and CVS culture: one confluent T-25 flask or 4 mL cord blood (If amniotic fluid or CVS are cultured at another facility, please maintain back-up cultures.)


Minimum Volume

Amniotic fluid: 10 mL; CVS: 10 mg; amniotic fluid and CVS culture: one confluent T-25 flask or 3 mL cord blood


Container

Amniotic fluid or CVS: sterile plastic conical tube or T-25 flask; cord blood: yellow-top (ACD-A) or lavender-top (EDTA) tubes


Collection

Standard sterile techniques; transfer aseptically to sterile tubes. Amniotic fluid: Discard first 2 mL of fluid aspirated to avoid maternal cell contamination.


Storage Instructions

Maintain specimen at room temperature. Do not freeze.


Stability Requirements

Please ship expedited at room temperature.


Causes for Rejection

Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container


Test Details


Use

This test is for fetal testing only. It is not intended for routine sickle cell screening.

This test uses DNA analysis to detect variants known to cause sickle cell anemia 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

Sickle cell analysis: 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.

Maternal cell contamination analysis (MCC): Analysis of short tandem repeat markers by multiplex fluorescent polymerase chain reaction (PCR) and capillary electrophoresis.


References

Bender MA, Carlberg K. Sickle Cell Disease. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2003 Sep 15 [updated 2022 Nov 17].20301551
Nagan, M, Faulkner NE, Curtis C, Schrijver I, MCC Guidelines Working Group of the Association for Molecular Pathology Clinical Practice Committee. Laboratory guidelines for detection, interpretation, and reporting of maternal cell contamination in prenatal analyses: a report of the association for molecular pathology. J Mol Diagn. 2011 Jan;13(1):7-11.21227389

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
482091 Sickle Cell, Fetal Analysis 482074 Ethnicity 42784-9
482091 Sickle Cell, Fetal Analysis 482075 Specimen Type 31208-2
482091 Sickle Cell, Fetal Analysis 482076 Genetic Counselor 89993-0
482091 Sickle Cell, Fetal Analysis 482077 Indication 42349-1
482091 Sickle Cell, Fetal Analysis 482078 Fetal ID 11951-1
482091 Sickle Cell, Fetal Analysis 482079 Result: 21689-5
482091 Sickle Cell, Fetal Analysis 482080 Interpretation 53039-4
482091 Sickle Cell, Fetal Analysis 482081 General Comments 8262-8
482091 Sickle Cell, Fetal Analysis 482082 MCC, Maternal Control 59266-7
482091 Sickle Cell, Fetal Analysis 482083 Recommendations 62385-0
482091 Sickle Cell, Fetal Analysis 482084 Additional ClinicalInformation 55752-0
482091 Sickle Cell, Fetal Analysis 482085 Comments 8251-1
482091 Sickle Cell, Fetal Analysis 482086 Methods/Limitations 49549-9
482091 Sickle Cell, Fetal Analysis 482087 References 75608-0
482091 Sickle Cell, Fetal Analysis 482088 Director Review/Release 72486-4
482091 Sickle Cell, Fetal Analysis 482089 PDF 51969-4

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