Medical Genetics Test Details
View Custom Req | Tests in Custom Req: 0
CFTR-Related Disorders Mutation Panel tests available.
(Click the blue dot to view test details. Red dot = current test.)
|CFTR-Related Disorders Mutation Panel|
|Test Information:||This analysis screens for 89 CFTR pathogenic mutations, including the American College of Medical Genetics (ACMG) recommended 23 mutation core panel.
Reflex testing: If the R117H mutation is detected, reflex analysis of the polythymidine variations (5T, 7T and 9T) at the intron 8 branch/acceptor site of the CFTR gene is performed at no additional charge. If the 5T variant is detected, then reflexive analysis of the adjacent polyTG tract is also performed.
Indications for testing:
- a clinical diagnosis of CF, CAVD, or other CF-related findings
- preconceptional and obstetrical carrier screening
- carrier identification in individuals with a positive family history
- prenatal testing for pregnancies at-risk for familial mutations
- prenatal screening due to abnormal fetal ultrasound findings
- sperm and egg donor carrier screening
~ 96% detection in the Ashkenazi Jewish population
~ 91% detection in the non Hispanic Caucasian population
~ 75% detection in the African American population
~ 82% detection in the Hispanic Caucasian population
~ 60% detection in the Asian American population
For a list of mutations, please see CFTR-Related Disorders Mutations List.|
This test is available as part of the Ashkenazic Genetic Disease Screen (#6942), which also includes selected mutation(s) analysis for Canavan Disease, Gaucher Disease, Familial, Niemann-Pick type A, Fanconi Anemia, Type C, Bloom Syndrome, Tay-Sachs, Mucolipidosis IV.
Genetics Home Reference - Cystic Fibrosis
Genetics Home Reference - Congenital Bilateral Absence of the Vas Deferens
|Methodology:||Extracted genomic DNA from test samples is amplified and hybridized to both normal and mutant fluorescent probes targeting the 89 mutation regions. Results are analyzed using quantitative imaging methods and analytical software to assist in determining if a given mutation is detected in the test sample. This analysis differentiates between the delF508 and the delI507 mutations as well as polymorphisms in this region.|
|Protein Name:||Cystic fibrosis transmembrane conductance regulator|
|Test Type:||Mutation Analysis|
|Sample & Shipping Information|
|Test Requisition:||Molecular Diagnostics|
|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|
|List Price:||*For Insurance or Institutional Prices, please call.|