Bloom Syndrome, DNA Analysis

CPT: 81209
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Test Details

Synonyms

  • 2281del6ins7 Mutation
  • Jewish Heritage Test
  • Sister Chromatid Exchange

Use

Identification of carrier and affected individuals for the 2281del6ins7 mutation associated with Bloom syndrome in the Ashkenazi Jewish population. Prenatal testing is available.

Limitations

This test only detects the 2281del6ins7 mutation that is responsible for Bloom syndrome in the Ashkenazi Jewish population.1 This test is not appropriate for non-Ashkenazi Jewish individuals.

Methodology

Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis

Additional Information

Bloom syndrome (OMIM 210900) is a rare autosomal recessive disorder that is characterized by small stature, photosensitivity, chromosomal instability, immunodeficiency, and a predisposition to develop multiple cancers.1,2 In the Ashkenazi Jewish population, the carrier frequency is approximately 1 in 104 individuals.2

Specimen Requirements

Specimen

Whole blood, amniotic fluid, chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing), or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)

Volume

7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit

Minimum Volume

3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs

Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube or two confluent T25 flasks for fetal testing, or LabCorp buccal swab kit

Storage Instructions

Maintain specimen at room temperature or refrigerate.

Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab

Clinical Information

Footnotes

1. Shahrabani-Gargir L, Shomrat R, Yaron Y, Orr-Urtreger A, Groden J, Legum C. High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin. Genet Test. 1998; 2(4):293-296. 10464606
2. Roa BB, Savino CV, Richards CS. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation. Genet Test. 1999; 3(2):219-221. 10464671

References

American College of Obstetricians and Gynecologists Committee on Genetics. ACOG committee opinion. Nº 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol. 2004 Aug; 104(2):425-428. 15292027
Monaghan KG, Feldman GL, Palomaki GE, Spector EB; Ashkenazi Jewish Reproductive Screening Working Group; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population. Genet Med. 2008 Jan; 10(1):57-72. 18197058

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
512145 Bloom Syndrome, DNA Analysis 512149 Bloom Syndrome, DNA Analysis 32640-5
512145 Bloom Syndrome, DNA Analysis 511940 PDF 51969-4
512145 Bloom Syndrome, DNA Analysis 511005 Jewish Heritage Putaway N/A

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