Bloom Syndrome, DNA analysis

Alphabetical Test listing

Bloom Syndrome, DNA analysis-13568

Bloom Syndrome, DNA analysis
2281del6ins7 Mutation
Jewish heritage test
Sister chromatid exchange

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

EDTA whole blood
7.0 mL
3.0 mL

Lavender (EDTA), 4mL

ACD whole blood - Yellow ACD
10 mL Amniotic fluid
20 mg Chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing)

Yellow ACD (A or B)


Sterile vial

Whole blood 7mL (minimum 3.0mL)
Amniotic fluid 10 mL (minimum 5mL)
Chorionic villus sample (CVS) 20 mg (minimum 10mg)

Yellow ACD (A or B)

Amniotic fluid: Sterile vial

CVS: two confluent T-25 flasks


Molecular Medicare billing request

  • Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
  • All information requested is required in order for your request to be completed



  • Frozen specimen
  • Hemolysis
  • quantity not sufficient for analysis (QNS)
  • Improper container
LabCorp RTP (512145): R-LC
Twice per week, or as needed
8 - 15 days
If cultured cells are needed, an additional 7 - 12 days may be required

Polymerase chain reaction (PCR), primer extension and flow-sorted bead


An interpretive report will be included


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

This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.
Result 51969-4