| PRNP Genetic Testing (Blood) | |
|---|---|
| CPT Code | 81404 ($274.83) |
| 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. |
| Available STAT | No. |
| Analytic Timei | 15 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 the 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.