Cystic Fibrosis, DNA Analysis
Order Name
CYSTIC GEN
Test Number: 1515700
Revision Date 02/22/2023
Test Number: 1515700
Revision Date 02/22/2023
| Test Name | Methodology | LOINC Code |
|---|---|---|
|
Cystic Fibrosis Mutation DNA Analysis
|
Multiplex PCR | 38404-0 |
|
Cystic Fibrosis Family History
|
Prompt | |
|
Ethnicity
|
Prompt | |
|
Reason for CF Testing
|
Prompt | |
|
Previous CF Mutation Identification
|
Prompt | |
|
CF Patient Information
|
Prompt |
| SPECIMEN REQUIREMENTS | ||||
|---|---|---|---|---|
| Specimen | Specimen Volume (min) | Specimen Type | Specimen Container | Transport Environment |
| Preferred | 5 mL (3 mL) | Whole Blood | EDTA (Lavender Top) | Room Temperature |
| Instructions | To receive a complete personalized report based on results, patient demographics and clinical scenario, please completely fill out the Cystic Fibrosis Patient Information Form and include with specimen. This form can be downloaded from the following link: Cyctic Fibrosis Patient Information Form Stability: Room Temperature 8 Days, Refrigerated 8 days, Frozen Not Acceptable. Do not centrifuge. Specimen cannot be shared with other testing for risk of DNA contamination. |
|||
| GENERAL INFORMATION | |
|---|---|
| Testing Schedule | Wednesday |
| Expected TAT | Within 14 days |
| Clinical Use | This is a qualitative genotyping test that provides information intended to be used for carrier testing in adults of reproductive age, as an aid in newborn screening, and in confirmatory diagnostic testing in newborns and children. This test is not indicated for use in fetal diagnostic or pre-implantation testing. This test is not intended for stand-alone diagnostic purposes. Personalized reports include risk assessment, concise genotype results, and clinical relevance. Further assessment is recommended when appropriate. Genetic Counseling is available through Access Genetics.
Method: Genomic DNA is evaluated using the Luminex xTAG Cystic Fibrosis 60 kit, an FDA-approved device employing a multiplex polymerase chain reaction (PCR) using oligonucleotide primers specific for regions of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. The resultant data is analyzed for 60 mutations and variants including the 23 mutations recommended by the American College of Medical Genetics and American College of Obstetricians and Gynecologists (ACMG/ACOG) for CF carrier testing. Reflex analysis is performed as recommended for intron 8-5T/7T/9T, I506V, I507V, and F508C variants. Results are interpreted by Board Certified Molecular Geneticists. |
| Notes | Reference Lab: Tricore Test Code: CFMUT Click Here to view the Tricore website. United Healthcare Insurance requires that each component of this panel has a Pre-Authorization obtained. Please submit the following tests for Pre-Authorization when the patient has United Healthcare insurance. 1515700MA - Cystic Gen Common Variants 1515700MB - Cystic Gen Del\Dup Variants |
| CPT Code(s) | 81220, 81222; If reflex performed add 81224 |
| Internal Comments | old 83891; 83900; 83896x46; 83912 Important coworker information: 1. Results should NEVER be given to the patient. The patient may request that a copy of the results be sent to a physician or a genetic counselor. This requires a release form be signed. 2. Testing will not be performed if forms 1 and 2 listed above are not received in the special hematology section with the specimen. We will extract DNA and hold it for 10 days to give client services the chance to get the forms signed, but after 10 days we will destroy the specimen. 3. All original consent and patient information forms will be stored in special hematology indefinitely. Super Group Test 5/1/17 - updated everything per Dr. Starkey's Request. ------------ 3/19/18 updated lab section from molecular to ref lab since Testing being sent to Tricore.- set up also changed from "Testing Schedule Set up Monday; report available 24-48 hours after setup, Expected TAT 3-10 days" to Wed within 14 days 4/1/2020 added cpt code 81222 - JK 2-4-2022 add UHC line - JK 10/1/22 pre auth 0 JK 2/10/23 Updated typo in temperature spellinh - SN Click Here for Molecular Pre-Authorization information. |
| Service Provided By |  |
| Lab Section | Reference Lab |