Medical Genetics Test Details
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CFTR - 5T Variant Analysis | ||
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Test Information: | Confirmation of Clinical Diagnosis, Carrier Risk Assessment | |
Test Details | ||
Test Code: | 6017 | |
Special Notes: |
CFTR mutation analysis should be done prior to or in conjunction with the 5T/TG Variant analysis. The 5T/TG Haplotype analysis will be performed as a reflex test for 5T positive individuals using PCR and fragment analysis by capillary electrophoresis to detect a TG tract in cis configuration with 5T. |
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Technical Information | ||
Methodology: | Sanger sequence analysis is performed in both forward and reverse directions. | |
Gene Name: | CFTR | |
Protein Name: | Cystic fibrosis transmembrane conductance regulator | |
Test Type: | Sequence Analysis |
Sample & Shipping Information | ||
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Test Requisition: | Molecular Diagnostics | |
Specimen Type: | Blood | |
Requirements: | Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs). | |
Shipping Conditions: | Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. |
Turn Around Time: | 21 days | |
Billing Information | ||
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List Price: | *For Insurance or Institutional Prices, please call. | |
CPT Codes: | 81224x1 |