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C9orf72 DNA Test
Test Code93089
CPT Codes
81479<br /> Limited Access Code
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Minimum Volume
6 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition for form.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Repeat Expansion Detection by Polymerase Chain Reaction
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: As needed; Report available: 14-21 days
Reference Range
Normal <21 repeats
Clinical Significance
Detects repeat expansions in the C9ORF72 gene.
Typical Presentation: Symptoms can start in any muscle including distal, proximal, axial, respiratory or bulbar leading to muscle weakness and wasting, increased muscle tone with hyperreflexia, and at times diaphragmatic and/or bulbar weakness. Atypical forms can include symptoms of dementia, parkinsonism, or both, although frontal and/or temporal cognitive impairment have been reported in up to 50% of ALS patients.
Indications for testing: Prominent UMN or LMN involvement; patients with a positive family history of neurodegenerative diseases; atypical ALS symptoms.
Typical Presentation: Symptoms can start in any muscle including distal, proximal, axial, respiratory or bulbar leading to muscle weakness and wasting, increased muscle tone with hyperreflexia, and at times diaphragmatic and/or bulbar weakness. Atypical forms can include symptoms of dementia, parkinsonism, or both, although frontal and/or temporal cognitive impairment have been reported in up to 50% of ALS patients.
Indications for testing: Prominent UMN or LMN involvement; patients with a positive family history of neurodegenerative diseases; atypical ALS symptoms.
