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HelpTest ID: ASYNC Alpha-Synuclein Protein Aggregates, Spinal Fluid
Specimen Required
Supplies: Sterile Specimen Tube, 6 mL (T485)
Container/Tube: Sterile polypropylene tube
Note: Polypropylene collection tubes must be used.
Specimen Volume: 1 mL
Collection Instructions:
1. Perform lumbar puncture and discard the first 1 to 2 mL of cerebrospinal fluid (CSF).
2. Collect CSF directly into a sterile polypropylene tube.
3. Inspect specimen for visible discoloration. Specimen must be clear and colorless to perform testing. Do not centrifuge.
4. Freeze sample upright prior to placing in transport container.
Useful For
Detection of pathogenic alpha-synuclein (alpha-synuclein aggregates) in adult patients being assessed for clinically uncertain cognitive decline or clinically uncertain parkinsonian syndromes
Method Name
Seed Amplification Assay (SAA)
Reporting Name
Alpha-Synuclein Aggregates, CSFSpecimen Type
CSFSpecimen Minimum Volume
0.3 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| CSF | Frozen (preferred) | 60 days |
| Refrigerated | 14 days |
Clinical Information
Synucleinopathies are a family of neurodegenerative disorders diagnosed pathologically based on the presence of inclusions composed of aggregates of misfolded alpha-synuclein protein in the brain. Synucleinopathies are divided into two major subgroups: Lewy body disease (LBD) and multiple system atrophy (MSA). LBD is characterized by deposits of aggregated alpha-synuclein that develop in neurons (Lewy bodies or Lewy neurites); LBDs include Parkinson disease, dementia with Lewy bodies, and Parkinson disease dementia. MSA is characterized by deposits of aggregated alpha-synuclein that develop in oligodendrocytes (called glial cytoplasmic inclusions). Synuclein pathology is often also present as a co-pathology in other neurodegenerative disorders, including Alzheimer disease and mixed dementias. Therefore, the presence or absence of synuclein pathology is an important factor influencing diagnosis and disease course across a spectrum of motor and cognitive neurodegenerative disorders.
Historically, synucleinopathies have been diagnosed during life based on clinical symptoms, sometimes augmented by dopamine transporter single-photon emission computed tomography imaging, with definitive diagnosis only possible through identification of synuclein aggregates in the brain at autopsy. The alpha-synuclein seed amplification assay detects aggregates of alpha-synuclein in cerebrospinal fluid (CSF). Studies have shown that detection of alpha-synuclein aggregates in CSF during life by SAA correlates with high sensitivity and specificity to the presence of synuclein pathology identified in the brain at autopsy.
Reference Values
An interpretive report will be provided
Interpretation
Detection of alpha-synuclein aggregates in cerebrospinal fluid is consistent with the presence of a synucleinopathy (eg, Parkinson disease, dementia with Lewy bodies, Alzheimer disease with Lewy body pathology, and multiple system atrophy).
Clinical Reference
1. Rizzo G, Copetti M, Arcuti S, Martino D, Fontana A, Logroscino G. Accuracy of clinical diagnosis of Parkinson disease: A systematic review and meta-analysis. Neurology. 2016;86(6):566-576. doi:10.1212/WNL.0000000000002350
2. Rizzo G, Arcuti S, Copetti M, et al. Accuracy of clinical diagnosis of dementia with Lewy bodies: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2018;89(4):358-366. doi:10.1136/jnnp-2017-316844
3. Wenning GK, Stankovic I, Vignatelli L, et al. The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy. Mov Disord. 2022;37(6):1131-1148. doi:10.1002/mds.29005
Day(s) Performed
Varies
Report Available
15 to 18 daysTest Classification
This test was developed and its performance characteristics determined by Amprion, Inc. This test is used for clinical purposes. It should not be regarded as investigational or for research. It has not been cleared or approved by the FDA. The laboratory is regulated under CLIA as qualified to perform high-complexity testing.CPT Code Information
0393U
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| ASYNC | Alpha-Synuclein Aggregates, CSF | Not Provided |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| ASYNC | Alpha-Synuclein Aggregates, CSF | Not Provided |
Forms
If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.