CFTR Deletion/Duplication Analysis
| Abbrev Code: | XMISC | ||
| Order Code: | LAB4909 | Order Name: | Laboratory Miscellaneous Order |
| Synonyms: | Cystic Fibrosis Deletion/Duplication | ||
| Methodology: | Gene deletion/duplication analysis is performed using Multiplex Ligation-dependent Probe Amplification | ||
| CPT Codes: | 81222 x1 | ||
| Test Includes: | Gene copy number for any of the 27 exons on the CFTR gene. | ||
| Turnaround Time: | Results are reported within 5-13 days, | ||
| Special Instructions: | Patient consent for genetic testing must be obtained prior to collection. | ||
| Associated Links: | |||
Collection Instructions
| Specimen: | Whole blood |
| Optimal Volume: | 6 mL |
| Minimum\Peds Volume: | 3 mL (adult); 2 mL (pediatric) |
| Container: | Purple (EDTA) Alternate Containers: Yellow (ACD, Solution A) tube available from laboratory |
| Patient Preparation: | Wait at least 2 weeks after a packed cell/platelet transfusion, and at least 4 weeks after a whole blood transfusion prior to blood draw for testing. |
Processing and Shipping
| Specimen Processing: | Do not process. Store in refrigerator. |
| Shipping Instructions: | Ship at room temperature or refrigerated. Cannot be received on a holiday. |
| Stability: | Stability: Stable for 48 hours at room temperature, or 7 days at refrigerated temperature. |
| Test Performed at or Referral Lab | Lab Sendouts (Ambry Genetics) |
| Referral Lab number: | 1004 |
Interpretive
| Use: | Confirming a diagnosis in patients known or suspected to have CF. |
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