| Test code: | 205 |
| Type of disorder: | Dementia |
| Disease(s) tested for: | Frontotemporal Dementia |
| Genes Included: |
MAPT, |
| 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: | Detection of mutations in the MAPT gene.
Typical Presentation: The typical presentation includes a progressive change in personality or as a progressive form of aphasia. Parkinsonism and amyotrophy may also be present. FTD appears to progress more rapidly than Alzheimer's disease and ultimately leads to global dementia.
Indications for testing: Onset of symptoms before 65 years old, positive family history, atypical Alzheimer's symptoms such as prominent neurobehavior features and/or absence of significant amnesia |
| Methodology: |
Next Generation Sequencing
|
| Reference Range: | No sequence variations detected |
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.
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: | 21-28 days |
Home