C9ORF72 (FTD) DNA Test
| Abbrev Code: | XMISC | ||
| Order Code: | LAB4909 | Order Name: | Laboratory Miscellaneous Order |
| Synonyms: | Frontotemporal Dementia | ||
| Methodology: | Repeat expansion detection by PCR; fragment size analysis | ||
| CPT Codes: | 81479 x1 | ||
| Turnaround Time: | Specimens are sent to reference laboratory Mon-Fri; results are reported within 14-28 days. | ||
| Special Instructions: | A signed informed consent in the patient's medical record is required. The consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors. | ||
| Associated Links: | |||
Collection Instructions
| Specimen: | Blood |
| Optimal Volume: | 8 mL collected in 2 EDTA tubes |
| Minimum\Peds Volume: | 6 mL |
| Container: | Purple (EDTA) |
| Causes for Rejection: | Frozen specimens. |
Processing and Shipping
| Specimen Processing: | Do not process. Store at room temperature. |
| Shipping Instructions: | Ship at room temperature. Protect from temperature extremes. |
| Stability: | Stability: 10 days at room temperature or refrigerated. |
| Test Performed at or Referral Lab | Lab Sendouts (Athena Diagnostics) |
| Referral Lab number: | 209 |
Interpretive
| Reference Range: | Normal: Less than 20 repeats. |
| Use: | Detects repeat expansions in the C9ORF72 associated with Frontotemporal Dementia. |
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