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Blood for PRNP Gene

PRNP Genetic Testing (Blood)
CPT Code 81404
Ordering Recommendation This genetic test can aid in diagnosing genetic prion disease. 
Methodology Polymerase Chain Reaction (PCR) amplification and bi-directional sequence analysis of the PRNP gene exon 2.
Available STAT No. 
Analytic Timei 30 business days.
Submit With Order

NPDPSC PRNP Request Form

 

Specimen Requirements
Patient Preparation PRNP Testing will not be performed in patients under 18 years of age.
Specimen Type Peripheral Whole Blood.
Preferred Container Ethylenediaminetetraacetic acid (EDTA).
Specimen Preparation Two purple-top tubes (EDTA), 5ml each.
Storage/Transport

Store blood at room temperature until shipped.
Tubes should be shipped at room temperature using protective bubble wrap or Styrofoam (preferably on blood collection date).

Please note: Shipments are not received on weekends and/or holidays. Ship only Monday through Thursday (priority overnight).
Unacceptable Conditions Frozen, clotted, wrong anticoagulant, or insufficient sample quantity.
Remarks Complete the required test request form linked above. Must include the NPDPSC PRNP Request Form with the "Social & Family History" section completed, as well as the Genetic Consent Form for genetic testing to be completed.
Stability Room temperature at 15-30°C: stable up to three days.
Refrigerated at 2-8°C: stable up to seven days.

 

Specimen Reporting
Reference Range None.
Critical Results None.
PRNP Gene Sequencing  Polymorphism: 129 M/M, M/V or V/V.
Pathogenic (mutation): None or Mutation Type.
Other mutations/polymorphisms: None or Silent Mutation Findings.

 

References

i. Expected turnaround-time (business days) for results, beginning when the center receives the specimen.
ii. Effective 08/01/2011, if blood is submitted for Genetic Sequencing on a patient without a confirmed family history of genetic CJD. The referring institution or patient will be charged for testing. The basic cost for testing is $274.83.