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26035 Prion Disease (CJD), CSF Panel

Prion Disease (CJD), CSF Panel
Test Code: PRIONSO
Useful For
​Helps establish the diagnosis of prion disease by analyzing cerebrospinal fluid (CSF) obtained either at biopsy or autopsy.
 
Identify the precise type of prion disease (sporadic, familial, or acquired) by examining the prion protein and the prion protein gene, once the diagnosis of prion disease has been established.
 
Search for the presence of the 14-3-3 protein. The 14-3-3 protein is a marker for some prion diseases, such as Creutzfeldt-Jakob disease (CJD), when a number of other neurodegenerative conditions are excluded.
 
Provide effective surveillance for CJD and other prion diseases.
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)		 Pediatric Minimum Volume
(no repeat)
​No ​CSF ​Sterile container ​ ​2-5 mL ​2 mL ​
Collection Processing Instructions
  • ​The cerebrospinal fluid (CSF) should be obtained by lumbar puncture. The first 2ml of CSF that flows from the tap should be discarded. Collect 2-5 mL of CSF, avoiding bloody tap.
  • The CSF should be frozen as quickly as possible (preferably within 20 minutes) and stored at -80°C freezer (or, lacking that, in a -20°C freezer) until shipment on dry ice.  It is essential to ship CSF specimens frozen with dry-ice in order to obtain reliable results
  • It is very important that you inform us of any follow-up information you may obtain, such as familial history of dementia and rapid deterioration of the patient's condition. If CSF or brain materials are collected in the future, a portion should be frozen immediately and sent to reference lab for further diagnosis. 
Cerebrospinal fluid (CSF) should be double boxed using a Styrofoam container with sufficient dry ice (5 lbs/24 hrs).  All specimens should be shipped using FedEx or UPS. Samples should be shipped as priority overnight to arrive before 10:30 am.  All suspected CJD samples should be shipped by a person trained in shipping dangerous goods. These specimens, regardless of the type of specimen, should be shipped as a UN 3373, Category B material.
Specimen Stability Information
Specimen Type Temperature Time
​CSF ​ ​ ​Frozen ​Indefinitely if frozen within 20 minutes of collection
​Ambient ​48 hours
​Refrigerate ​2 weeks
Rejection Criteria
No CSF samples will be rejected.  All whole CSF samples will be tested.
Interference
​Blood in the sample can cause false positive issues.
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Case Western Reserve University/Scool of Medicine: Prion Center (NPDPSC) ​Tuesday and Thursday ​14 days

​Protein 14-3-3 done via Western Blot

Total TAU done via ELISA

RT-QuIC done via Real Time Quaking Induced Conversion 

Reference Lab
Case Western Reserve University/School of Medicine: Prion Center (NPDPSC)
Reference Range Information
See Report
Interpretation
Only frozen brain tissue examination definitely confirms or excludes the diagnosis of prion disease and provides the information to identify the type of prion disease. The immunohistochemical examination provides a definitive diagnosis only when positive. The CSF and blood examinations provide information that may be very helpful to caring physicians in making a clinical diagnosis.
Ordering Applications
Ordering Application Description
​COM ​Prion Disease (CJD), CSF Panel
​Cerner ​Prion Disease (CJD), CSF Panel
​Centricity ​Prion Disease (CJD), CSF Panel
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)		 Pediatric Minimum Volume
(no repeat)
​No ​CSF ​Sterile container ​ ​2-5 mL ​2 mL ​
Collection Processing
  • ​The cerebrospinal fluid (CSF) should be obtained by lumbar puncture. The first 2ml of CSF that flows from the tap should be discarded. Collect 2-5 mL of CSF, avoiding bloody tap.
  • The CSF should be frozen as quickly as possible (preferably within 20 minutes) and stored at -80°C freezer (or, lacking that, in a -20°C freezer) until shipment on dry ice.  It is essential to ship CSF specimens frozen with dry-ice in order to obtain reliable results
  • It is very important that you inform us of any follow-up information you may obtain, such as familial history of dementia and rapid deterioration of the patient's condition. If CSF or brain materials are collected in the future, a portion should be frozen immediately and sent to reference lab for further diagnosis. 
Cerebrospinal fluid (CSF) should be double boxed using a Styrofoam container with sufficient dry ice (5 lbs/24 hrs).  All specimens should be shipped using FedEx or UPS. Samples should be shipped as priority overnight to arrive before 10:30 am.  All suspected CJD samples should be shipped by a person trained in shipping dangerous goods. These specimens, regardless of the type of specimen, should be shipped as a UN 3373, Category B material.
Specimen Stability Information
Specimen Type Temperature Time
​CSF ​ ​ ​Frozen ​Indefinitely if frozen within 20 minutes of collection
​Ambient ​48 hours
​Refrigerate ​2 weeks
Rejection Criteria
No CSF samples will be rejected.  All whole CSF samples will be tested.
Interference
​Blood in the sample can cause false positive issues.
Useful For
​Helps establish the diagnosis of prion disease by analyzing cerebrospinal fluid (CSF) obtained either at biopsy or autopsy.
 
Identify the precise type of prion disease (sporadic, familial, or acquired) by examining the prion protein and the prion protein gene, once the diagnosis of prion disease has been established.
 
Search for the presence of the 14-3-3 protein. The 14-3-3 protein is a marker for some prion diseases, such as Creutzfeldt-Jakob disease (CJD), when a number of other neurodegenerative conditions are excluded.
 
Provide effective surveillance for CJD and other prion diseases.
Reference Range Information
See Report
Interpretation
Only frozen brain tissue examination definitely confirms or excludes the diagnosis of prion disease and provides the information to identify the type of prion disease. The immunohistochemical examination provides a definitive diagnosis only when positive. The CSF and blood examinations provide information that may be very helpful to caring physicians in making a clinical diagnosis.
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Case Western Reserve University/Scool of Medicine: Prion Center (NPDPSC) ​Tuesday and Thursday ​14 days

​Protein 14-3-3 done via Western Blot

Total TAU done via ELISA

RT-QuIC done via Real Time Quaking Induced Conversion 

Reference Lab
Case Western Reserve University/School of Medicine: Prion Center (NPDPSC)
For billing questions, see Contacts
For most current information refer to the Marshfield Laboratory online reference manual.