| Test code: | 209 |
| Type of disorder: | Dementia |
| Disease(s) tested for: | Frontotemporal Dementia |
| Genes Included: | C9ORF72, |
| Profiles that contain this test: | Frontotemporal Dementia (FTD) Evaluation |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | 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 |
| Methodology: | Repeat Expansion Detection by PCR, Fragment Size Analysis |
| Reference Range: | Normal: <21 repeats |
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
| CPT: | 81479(1) |
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: | Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: | 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-28 days |
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