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C9ORF72 (FTD) DNA Test -Athena #209
MessageThis test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.
Test Code
C9ORF72(FTD)(ATH#209)
Alias/See Also
Frontotemporal Dementia
Preferred Specimen
Whole blood - Lavender EDTA - 3 tubes
Minimum Volume
Preferred: 8 mL
Minimum: 6 mL
Minimum: 6 mL
Transport Temperature
Room temperature. Avoid freezing.
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Repeat Expansion Detection by PCR, Fragment Size Analysis
Report Available
28 - 42 days
Reference Range
Provided with the patient report in CPRS.
Clinical Significance
Type of disorder: Dementia
Typical presentation: Typical presentation includes behavioral variant and primary progressive aphasia. Behavioral variant FTD includes inappropriate social behavior, lack of empathy, changes in appetite, agitation, blunted emotions, neglect of personal hygiene, compulsive behavior, and lack of energy and motivation. Primary progressive aphasia features symptoms of language disturbance, such as difficulty making or understanding speech.
Indications for testing: Onset of symptoms before 65 years of age, positive family history of neurodegenerative conditions, atypical Alzheimer's symptoms such as prominent neurobehavior features and/or absence of significant amnesia
Disease(s) tested for: Frontotemporal Dementia
Utility: Detects expansions in C9ORF72 associated with Frontotemporal Dementia
Typical presentation: Typical presentation includes behavioral variant and primary progressive aphasia. Behavioral variant FTD includes inappropriate social behavior, lack of empathy, changes in appetite, agitation, blunted emotions, neglect of personal hygiene, compulsive behavior, and lack of energy and motivation. Primary progressive aphasia features symptoms of language disturbance, such as difficulty making or understanding speech.
Indications for testing: Onset of symptoms before 65 years of age, positive family history of neurodegenerative conditions, atypical Alzheimer's symptoms such as prominent neurobehavior features and/or absence of significant amnesia
Disease(s) tested for: Frontotemporal Dementia
Utility: Detects expansions in C9ORF72 associated with Frontotemporal Dementia
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
Additional Information
Link to Athena Diagnostics test catalog
Last Updated: December 18, 2015
