Test Code MISC2MAYODRPL 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 AnalysisSpecimen Type
VariesShipping 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.Clinical Information
Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder characterized by ataxia, choreoathetosis, dementia, and psychiatric disturbance in adults and ataxia, myoclonus, seizures, and progressive intellectual deterioration in children. Characteristic neuropathologic observations include degeneration of the dentatorubral and pallidoluysian systems of the central nervous system.
The prevalence of DRPLA depends on the geographic and ethnic origin of the population being studied. DRPLA was first described in a European individual without a family history of the disorder; however, it is predominantly found as an inherited condition and is most prevalent in Japan (0.2-0.7 per 100,000). Although rare, DRPLA has been identified in other populations, including Europe and North America.
Dentatorubral-pallidoluysian atrophy is caused by an expansion of a CAG trinucleotide repeat in the ATN1 gene. This trinucleotide repeat is polymorphic in the general population, with the number of repeats ranging from 6 to 35. Affected individuals, have 48 or greater CAG repeats. Repeat sizes between 35 and 47 are associated with incomplete penetrance and a milder clinical phenotype. As with other trinucleotide repeat disorders, anticipation is frequently observed, and larger CAG expansions are associated with earlier onset and a more severe and rapid clinical course. More marked expansion may occur with paternal transmission.
Reference Values
Normal alleles: 7-35 CAG repeats
Abnormal alleles: 49-93 CAG repeats
An interpretive report will be provided.
Interpretation
The interpretive report includes an overview of the findings as well as the associated clinical significance.
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
Report Available
14 to 21 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterCPT 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 |
Special Instructions
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.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.
Secondary ID
35402Specimen Minimum Volume
See Specimen Required