Test Catalog

Test Id : DRPL

Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies

Useful For
Suggests clinical disorders or settings where the test may be helpful

Molecular confirmation of a 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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Polymerase Chain Reaction (PCR)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

DRPLA Gene Analysis

Aliases
Lists additional common names for a test, as an aid in searching

Dentatorubral-Pallidoluysian Atrophy (DRPLA)

DRPLA (Dentatorubral-Pallidoluysian Atrophy)

Haw River Syndrome (HRS)

HRS (Haw River Syndrome)

Specimen Type
Describes the specimen type validated for testing

Varies

Shipping Instructions

Specimen preferred to arrive within 96 hours of draw.

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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.

Specimen Type: Whole blood

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 specimen in original tube.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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 in Special Instructions:

-Informed Consent for Genetic Testing  (T576)

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

2. Molecular Genetics: Neurology Patient Information in Special Instructions.

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

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

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

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

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

Useful For
Suggests clinical disorders or settings where the test may be helpful

Molecular confirmation of a 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

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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; 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.

 

DRPLA is caused by an expansion of the CAG trinucleotide repeat in the ATN1 (DRPLA) gene. This trinucleotide repeat is polymorphic in the general population, with the number of repeats ranging from 7 to 35. In affected individuals the CAG expansion ranges from 48 to 93 repeats. 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. In DRPLA, the observed anticipation appears to be significantly greater in paternal transmissions.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Normal alleles: 7-35 CAG repeats

Abnormal alleles: 49-93 CAG repeats

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

An interpretive report will be provided.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

For predictive testing, it is important to first document the presence of CAG-repeat amplification in the ATN1 gene in an affected family member to confirm that molecular expansion is the underlying mechanism of disease in the family.

 

We strongly recommend that patients undergoing predictive testing receive genetic counseling both prior to testing and after results are available.

 

Predictive testing of an asymptomatic child is not recommended.

 

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

  

The absence of an expansion in the ATN1 gene does not eliminate the diagnosis of other inherited neurodegenerative disorders that have overlapping clinical features with DRPLA, such as Huntington disease or spinocerebellar ataxias.

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.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Ikeuchi T, Onodera O, Oyake M, et al: Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation. Semin Cell Biol 1995;6:37-44

2. Tsuji S: Dentatorubral-pallidoluysian atrophy: clinical aspects and molecular genetics. Ad Neurol 2002;89:231-239

3. Oyanagi S: Hereditary dentatorubral-pallidoluysian atrophy. Neuropathology 2000 20 Suppl:S42-6

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

A PCR-based assay is used to amplify across the region of the ATN1 (DRPLA) 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;4:108-113)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Tuesday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

14 to 21 days

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

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

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
DRPL DRPLA Gene Analysis In Process
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
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

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports