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Test Code CJDE Creutzfeldt-Jakob Disease Evaluation, Spinal Fluid


Ordering Guidance


In cases where there is high suspicion of human prion disease supported by clinical or paraclinical (MRI imaging) features, this test should be ordered.

Early in the disease course, or in atypical cases, the disease progression may be slower and include significant clinical overlap (dementia, rigidity, myoclonus) with other potential causes of rapidly progressive dementia, including Alzheimer disease. In the latter case, it would be more appropriate to order RPDE / Rapidly Progressive Dementia Evaluation, Spinal Fluid.



Specimen Required


Supplies: CJD/RPD Evaluation Kit (T966)

Container/Tube:

Preferred: 2 Sarstedt CSF False Bottom Tubes 63.614.625 (2.5 mL)

Acceptable: Sarstedt 72.703.600 (1.5 mL) or Sarstedt 72.694.600 (2 mL)

Specimen Volume: 2 tubes, each containing 1.5 mL to 2.5 mL

Collection Instructions:

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.

4. Collection instructions can also be found on Spinal Fluid Specimen Collection Instructions for Creutzfeldt-Jakob Disease and Rapidly Progressive Dementia Evaluations (T974).


Secondary ID

620374

Useful For

Assessment of Creutzfeldt-Jakob disease or other human prion disease in patients with rapidly progressive dementia

Profile Information

Test ID Reporting Name Available Separately Always Performed
CJDEI CJD Eval Interp, CSF No Yes
RTQPC RT-QuIC Prion, CSF No Yes
ADCJD Tau CJD Evaluation, CSF No Yes

Method Name

CJDEI: Medical Interpretation

RTQPC: Real-Time Quaking-Induced Conversion (RT-QuIC)

ADCJD: Electrochemiluminescent Immunoassay (ECLIA)

Reporting Name

CJD Evaluation, CSF

Specimen Type

CSF

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
CSF Frozen (preferred) 28 days BlueTop SARSTEDT
  Refrigerated  14 days BlueTop SARSTEDT
  Ambient  12 hours BlueTop SARSTEDT

Reject Due To

Gross hemolysis Reject
Gross lipemia Reject
Gross icterus Reject
Discolored CSF Reject

Reference Values

RT-QuIC PRION, CSF:

Negative

 

t-TAU/p-TAU:

≤18

 

TOTAL TAU:

≤393 pg/mL

Day(s) Performed

Monday through Friday, Sunday

Report Available

3 to 8 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

84999

83520 x 2

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CJDE CJD Evaluation, CSF 97502-9

 

Result ID Test Result Name Result LOINC Value
CTTPT t-Tau/p-Tau 101752-4
620307 RT-QuIC Prion, CSF 101662-5
620375 CJD Eval Interp, CSF 69048-7
CTTAU Total-Tau 30160-6
CPTAU Phospho-Tau(181P) 72260-3