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Pathology

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pawsPathologyManual: Ashkenazi Disease

Lonic Code

 

Test Name

Ashkenazi Disease

Synonyms

Bloom Syndrome, Bloom Mutation, Ashkenazi Disease

Test Consists

 

Specimen Requirements

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

Critical Values

 

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

Availability

Monday-Thursday from 1 pm-4 pm ONLY, except observed holidays

CPT / HCPCS Code

83890, 83892, 83896, 83900, 83909, 83912, 83914

Medicare Fee

 

Comments

 

Row Stamp

39,893,495

Last Updated

 

Volume

 

Minimum Volume

 

Indications

Carrier testing and diagnosing Bloom syndrome in individuals of Ashkenazi Jewish ancestry

Professional Fee

 

Tech Charge

 

Total Fee

 

Special Instructions

Include a completed Molecular Genetics-Congenital Inherited Diseases Patient Information Sheet

Lab

Mayo Medical Laboratory Rochester

Schedule

Test performed Tuesday at Mayo Medical Laboratory Rochester

Request Form

 

Methodology

PCR with Luminex Technology

Patient Prep

 

Post Processing

 

Collection Guidelines

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)

Reference Range

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.

Interpretation

The report will include specimen information, pedigree (when appropriate), assay information, test results, and interpretation of test results

Additional Information

 

CPOE Test Name

Ref Misc Referral Lab Test, type Bloom SMA in Test Name REF

Status

1

AUDIT_DEL

 

Attachments

Created at 9/8/2014 5:57 PM by Bradshaw, Keir
Last modified at 9/8/2014 5:57 PM by Bradshaw, Keir