Hemoglobin, Sickle Cell, Prenatal, DNA

CPT: 81361
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Test Details

Synonyms

  • Sickle Cell Anemia, Prenatal

Use

DNA analysis to detect mutations known to cause sickle cell anemia

Limitations

False-positive and false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, erroneous representation of family relationships, or contamination of a fetal sample with maternal cells.

Methodology

Isolated DNA is tested for the two mutations that cause sickle cell disease. DNA sequences within the β-hemoglobin gene are amplified by polymerase chain reaction (PCR) and hybridized to oligonucleotide probes specific for the sequences determining Hb A, Hb S, and Hb C.

Specimen Requirements

Specimen

Amniotic fluid or chorionic villus sample (CVS)

Volume

12 mL amniotic fluid or 20 mg CVS and 5 mL blood per parental sample

Minimum Volume

10 mL amniotic fluid or 10 mg CVS and 2 mL blood per parental sample.

Container

Sterile plastic conical tube or two confluent T-25 flasks and lavender-top (EDTA) tube

Collection

Do not use urine container, syringes, or tubes with rubber-stoppers. Rubber is toxic to amniocytes.

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Specimen frozen; specimen found not to be amniotic fluid; quantity not sufficient for analysis; improper container

Clinical Information

Special Instructions

This test is for fetal/prenatal cases and parental controls. It is not intended for routine sickle cell screening. Please call 800-345-4363 with any questions regarding selection of tests.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
451391 Sickle Cell Anemia 451392 Specimen Type: 31208-2
451391 Sickle Cell Anemia 450971 Genetic Counselor: N/A
451391 Sickle Cell Anemia 451393 Indication: 42349-1
451391 Sickle Cell Anemia 451395 Result: 21689-5
451391 Sickle Cell Anemia 451396 Interpretation: 50996-8
451391 Sickle Cell Anemia 451397 Comments: 77202-0
451391 Sickle Cell Anemia 451398 Method: 49549-9
451391 Sickle Cell Anemia 451399 Disclaimer: N/A
451391 Sickle Cell Anemia 451401 Signed: 72486-4

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CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2018, 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