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Order Code DRPL Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies

Useful For

Confirming the diagnosis of dentatorubral-pallidoluysian atrophy (DRPLA) for symptomatic patients

 

Predictive testing for individuals with a family history of DRPLA and a documented expansion in the ATN1 gene in an affected family member

Method Name

Polymerase Chain Reaction (PCR)

Reporting Name

DRPLA Gene Analysis

Specimen Type

Varies


Shipping Instructions


 



Specimen Required


Specimen Type: Whole blood

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: None

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Additional Information:

1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.

2. To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.


Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

Normal alleles: 7-35 CAG repeats

Abnormal alleles: 49-93 CAG repeats

 

An interpretive report will be provided.

Method Description

A polymerase chain reaction-based assay is used to amplify across the region of the ATN1 gene containing the CAG repeats. Assay products are separated by capillary electrophoresis and are sized by comparison with an internal size standard.(Dorschner MO, Barden D, Stephens K. Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis. J Mol Diag. 2002;4(2):108-113)

Day(s) Performed

Tuesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81177-ATN1 (ataxin 2) (eg, denatatorubral-pallidolyuysian atrophy) gene analysis, evaluation to detect abnormal (eg, expanded) alleles

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics: Neurology Patient Information

3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.

Specimen Minimum Volume

See Specimen Required