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HelpTest 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 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.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 daysPerforming 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 |
Special Instructions
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