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For Clinician Providers
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Fragile X Syndrome, Carrier for NY State
I250
| Methodology: | Polymerase chain reaction (PCR) followed by capillary electrophoresis, with reflex to AGG interruption analysis and methylation PCR analysis for positive samples. |
| Performed: | Varies |
| Reported: | 8 – 14 days from receipt of specimen. In some cases, additional time may be required for confirmatory or reflex tests. |
| Specimen Required: | Collect: Yellow-top (ACD-A) or lavender-top (EDTA) – 8.5 mL whole blood ( 2 tubes) Specimen Preparation: Standard phlebotomy. Follow collection instructions. Do not eat, drink, smoke, or chew gum 30 min prior to collection. Storage/Transport Temperature: Room Temperature. Stability: Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze. Test Includes: This test includes the following gene: FMR1 Causes for Rejection: Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container NOTE: This test is not available for New York patients, please refer to test code FX for specimen requirements.* Performing Lab Integrated GENETICS LabCorp Women’s Health |
| CPT Code(s): | 81243 |
| PDF Document: | Informed Consent For Genetic Testing.pdf |