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CFTR Intron 8 Poly-T Analysis
Test Code15053
CPT Codes
81224<br />
Physician Attestation of Informed Consent
This genetic test requires provider confirmation that patient informed consent has been received if the ordering provider is located in AK, AZ, DE, FL, GA, IA, MA, MN, MT, NV, NH, NJ, NY, OR, SC, SD, or VT or testing is performed in MA.
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Other Acceptable Specimens
Whole blood collected in: ACD solution A or B (yellow-top), sodium or lithium heparin (green-top) tube
Instructions
Please indicate the ethnicity of the patient.
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Refrigerated: 8 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen
Methodology
Multiplex Polymerase Chain Reaction • Next Generation Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Tues, Fri; Report Available: 7-11 days
Clinical Significance
This test is utilized for the following indications:
1) To evaluate individuals having phenotypes associated with mild forms of cystic fibrosis, congenital absence of the vas deferens (CBAVD), idiopathic pancreatitis, bronchiectasis, etc.
2) To confirm a diagnosis of CBAVD in infertile males.
3) To determine the poly T status in individuals positive for the R117H mutation.
Please note: This test detects the intron 8 poly T status in the CFTR gene. It does not evaluate for the TG tract length. If CFTR intron 8 poly T status with TG tract length is desired, single exon testing would be required. This test is not recommended for routine carrier screening. The recommended test for routine CF carrier screening analyzes an expanded number of variants that are known to cause CF. If there are questions about which test is most appropriate, or if a carrier screening panel that includes CF is desired, please see the Quest Test Directory for panel options and/or contact 866-GENE-INFO (866-436-3463) for assistance.
1) To evaluate individuals having phenotypes associated with mild forms of cystic fibrosis, congenital absence of the vas deferens (CBAVD), idiopathic pancreatitis, bronchiectasis, etc.
2) To confirm a diagnosis of CBAVD in infertile males.
3) To determine the poly T status in individuals positive for the R117H mutation.
Please note: This test detects the intron 8 poly T status in the CFTR gene. It does not evaluate for the TG tract length. If CFTR intron 8 poly T status with TG tract length is desired, single exon testing would be required. This test is not recommended for routine carrier screening. The recommended test for routine CF carrier screening analyzes an expanded number of variants that are known to cause CF. If there are questions about which test is most appropriate, or if a carrier screening panel that includes CF is desired, please see the Quest Test Directory for panel options and/or contact 866-GENE-INFO (866-436-3463) for assistance.
