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Point of Care Testing
Pathology Lab Manual
All Site Content
Bloom Syndrome, Bloom Mutation, Ashkenazi Disease
10.0 mL blood
Volume and Container
10.0 mL yellow top ACD blood tube
Storage and Transport
ACD whole blood stored ambient until ready for transport to Mayo Medical Laboratory Rochester
Causes for Rejection
Specimens other than ACD whole blood, frozen whole blood, specimens collected beyond 96 hours
Turn Around Time
15-30 business days from time of collection
Monday-Thursday from 1 pm-4 pm ONLY, except observed holidays
CPT / HCPCS Code
83890, 83892, 83896, 83900, 83909, 83912, 83914
Carrier testing and diagnosing Bloom syndrome in individuals of Ashkenazi Jewish ancestry
Include a completed Molecular Genetics-Congenital Inherited Diseases Patient Information Sheet
Mayo Medical Laboratory Rochester
Test performed Tuesday at Mayo Medical Laboratory Rochester
PCR with Luminex Technology
Specimen must arrive at Mayo Medical Laboratory Rochester within 96 hours of collection. Draw specimen Monday-Thursday ONLY and not the day before a recognized holiday (ie July 4, Christmas, New Year's, etc)
See reference lab report
Limitations and Contraindications
This direct DNA assay will not detect all mutations that cause Bloom syndrome, therefore the absence of a detectable mutation does not rule out the possibility that an individual is a carrier. Not recommended as a first tier test for those not of Ashkenazi Jewish descent. Any error in the diagnosis of the proband or in family relationships provided in the pedigree will lead to an erroneous segregation pattern and an incorrect interpretation of results. Bone marrow transplants from allogenic donors will interfere with testing.
The report will include specimen information, pedigree (when appropriate), assay information, test results, and interpretation of test results
CPOE Test Name
Ref Misc Referral Lab Test, type Bloom SMA in Test Name REF
Created at 9/8/2014 5:57 PM by Bradshaw, Keir
Last modified at 9/8/2014 5:57 PM by Bradshaw, Keir
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