CFTR Intron 8 Poly-T Analysis

Test Code

15053

CPT Codes
81224<br />

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test 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 ambient immediately. Do not freeze.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 8 days
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 used:
1) To evaluate individuals having phenotypes associated with mild form of cystic fibrosis, 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.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.