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Test 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

Reporting Name

DRPLA Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Specimen Type: Whole blood

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

Container/Tube:

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

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

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


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.

Supportive Data

Method validation involved comparative studies with other laboratories and testing 50 individuals from the general population (anonymous blood donors) and 48 patients with cerebellar ataxia. In each case, the distribution of observed repeat sizes closely correlated with previously reported values (ie, similar range and frequencies of specific repeat sizes). Sequencing of 2 specimens confirmed accuracy of CAG repeat numbers compared with estimations based on the size of polymerase chain reaction products.

Day(s) Performed

Tuesday

Report Available

14 to 21 days

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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
DRPL DRPLA Gene Analysis In Process

 

Result ID Test Result Name Result LOINC Value
53234 Result Summary 50397-9
53235 Result 49631-5
53236 Interpretation 69047-9
53237 Specimen 31208-2
53238 Source 31208-2
53239 Released By 18771-6

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.