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

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.

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

Specimen Minimum Volume

See Specimen Required

Specimen Retention Time

Whole blood: 2 weeks (if available); Extracted DNA: 3 months