Bloom Syndrome, DNA Analysis
| Bloom Syndrome, DNA Analysis | | | |
| Number | | 512145 |
| CPT | | 83891; 83892; 83898; 83912; 83914 |
| Synonyms | | 2281del6ins7 Mutation ; Jewish Heritage Test ; Sister Chromatid Exchange |
| 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 |
| 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. This procedure may be considered by Medicare and other carriers as investigational and, therefore, may not be payable as a covered benefit for patients. |
| 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 |
| Footnotes | | - Shahrabani-Gargir L, Shomrat R, Yaron Y, et al, “High Frequency of a Common Bloom Syndrome Ashkenazi Mutation Among Jews of Polish Origin,” Genet Test, 1998, 2(4):293-6.
- Roa BB, Savino CV, and Richards CS, “Ashkenazi Jewish Population Frequency of the Bloom Syndrome Gene 2281 Delta 6ins7 Mutation,” Genet Test, 1999, 3(2):219-21
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| References | | American College of Obstetricians and Gynecologists, “Prenatal and Preconceptional Carrier Screening for Genetic Diseases in Individuals of Eastern European Jewish Descent,” Technical Bulletin 298, Washington, DC: ACOG, August 2004. |
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