CJD Evaluation, CSF
Order Name
CJD Eval, CSF
Test Number: 5197087
Revision Date 12/11/2024
Test Number: 5197087
Revision Date 12/11/2024
| Test Name | Methodology | LOINC Code |
|---|---|---|
|
CJD Eval Interp, CSF
|
Medical Interpretation, RT-QulC/ECLIA | n/a |
|
RT-QuIC Prion, CSF
|
Medical Interpretation, RT-QulC/ECLIA | n/a |
|
t-Tau/p-Tau
|
Medical Interpretation, RT-QulC/ECLIA | n/a |
|
Total-Tau
|
Medical Interpretation, RT-QulC/ECLIA | n/a |
|
Phospho-Tau(181P)
|
Medical Interpretation, RT-QulC/ECLIA | n/a |
| SPECIMEN REQUIREMENTS | ||||
|---|---|---|---|---|
| Specimen | Specimen Volume (min) | Specimen Type | Specimen Container | Transport Environment |
| Preferred |
Two: 2.5 mL ea (1.5 mL ea) |
CSF (Cerebrospinal Fluid) | CSF Container | Frozen |
| Instructions | Specimen: CSF 2 tubes, each containing 1.5 mL to 2.5 mL Frozen Container: CSF Tube (Sarstedt preferred, Sarstedt 63.614.625 PS # 140688) Collection: [1]. Perform lumbar puncture and discard the first 1 to 2 mL of cerebrospinal fluid (CSF). [2]. Collect two tubes of CSF directly into an acceptable collection tube until the tube is at least 50% full. [3]. Send CSF specimen in original collection tube. Do not aliquot. Stability Requirements: Room temperature n/a, Refrigerated 14 days, Frozen 28 days Cause for Rejection: Gross hemolysis, Gross lipemia, Gross icterus, Discolored CSF Testing referred to Mayo Medical Laboratory ML#CJDE |
|||
| GENERAL INFORMATION | |
|---|---|
| Expected TAT | 6 - 11 days from set up |
| Clinical Use | This evaluation is intended for use in patients with suspected Creutzfeldt-Jakob disease (CJD) and other human prion diseases. CJD is a rare and fatal neurodegenerative disorder that predominantly affects the brain and is caused by misfolded prion proteins (PrP[Sc]). CJD accounts for more than 90% of human prion diseases. Initial symptom onset is heterogenous but commonly includes rapidly progressive dementia, cerebellar ataxia, and myoclonus. The timeline of symptom progression and the pattern of symptom evolution can be divergent across patients and CJD subtypes, making an accurate diagnosis based on clinical presentation alone challenging. The inclusion of biomarkers with high diagnostic accuracy has improved the differentiation of CJD and related prion diseases from treatable neurological conditions with overlapping phenotypes. The real-time quaking-induced conversion (RT-QuIC) assay in cerebrospinal fluid (CSF) has been established to have strong clinical utility for early and accurate diagnosis of CJD through numerous independent studies. Furthermore, the robustness and reproducibility of the RT-QuIC assay for CJD across laboratories has been demonstrated through international ring trials. The clinical sensitivity and specificity of second-generation RT-QuIC assays in CSF have been consistently reported to be greater than or equal to 92% and greater than or equal to 99%, respectively. Despite the high diagnostic accuracy of the assay, RT-QuIC results should be interpreted in the appropriate clinical context along with other clinical and paraclinical findings. A definitive diagnosis of sporadic prion disease can be established only through neuropathological assessment of brain tissue. Unexpectedly negative RT-QuIC test results should prompt careful consideration of the differential diagnosis. If there is high suspicion of prion disease, repeat RT-QuIC testing may be warranted. A small subset of cases initially negative by RT-QuIC may become positive as the disease progresses. However, RT-QuIC may be persistently negative in a small proportion of patients with definitive prion disease. False-negative RT-QuIC results are most often encountered in cases of genetic prion disease (eg, fatal familial insomnia and Gerstmann-Straussler-Scheinker disease) and in atypical sporadic prion disease subtypes (eg, MM2 cortical subtype) that have slower indolent disease progression. Other CSF biomarkers have been utilized to support the diagnosis of CJD, including 14-3-3, total Tau measurement, and the ratio of total Tau to phosphorylated Tau at threonine 181. Recent studies have indicated that the Tau ratio (total Tau to pT181-Tau or vice versa) has a very high diagnostic accuracy, which exceeds that provided by total Tau or 14-3-3 enzyme-linked immunosorbent assays (ELISA). In a cohort of probable/definite CJD cases and controls tested utilizing the Roche Total-Tau and p-Tau (threonine 181) Elecsys assays, the optimized cut-off value for total Tau (>393 ng/L) had a clinical sensitivity and specificity of 92.3% and 88.3% for CJD, respectively; and the optimized cut-off value for the total Tau to p-Tau ratio (>18) has a clinical sensitivity and specificity of 97.4% and 95.9% for CJD, respectively. Importantly, total Tau or total Tau to p-Tau ratios utilize assay-dependent cut-off values, and cut-off values from one assay are not transferable to different assay platforms. The National Prion Disease Pathology Surveillance Center (NPDPSC) coordinates autopsies and neuropathologic examinations on suspected prion disease cases. More information about services available at the NPDPSC may be found at https://case.edu/medicine/pathology/divisions/prion-center. |
| Performing Labcorp Test Code | 834040 |
| CPT Code(s) | 84999, 83520x2 |
| Lab Section | Reference Lab |