Please login to order a test.
Bloom Syndrome, DNA Analysis
- 2281del6ins7 Mutation
- Jewish Heritage Test
- Sister Chromatid Exchange
If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.
Expected Turnaround Time
8 - 15 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.
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)
7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit
3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs
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
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
Identification of carrier and affected individuals for the 2281del6ins7 mutation associated with Bloom syndrome in the Ashkenazi Jewish population. Prenatal testing is available.
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.
Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis
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
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|512145||Bloom Syndrome, DNA Analysis||511940||51969-4|
|512145||Bloom Syndrome, DNA Analysis||512149||Bloom Syndrome, DNA Analysis||32640-5|