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Genetic Labs

Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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CFTR-Related Disorders Mutation Panel tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis CFTR Deletion/Duplication Analysis
Test Code: 6373
CFTR Deletion/Duplication Analysis
Test Code: 6373
Mutation Analysis CFTR-Related Disorders Mutation Panel
Test Code: 7600
CFTR-Related Disorders Mutation Panel
Test Code: 7600
CFTR-Related Disorders Mutation Panel
Test Code: 7601
Sequence & Deletion/Duplication Analysis CFTR Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 6376
Sequence Analysis CFTR Sequence Analysis
Test Code: 6370
CFTR Sequence Analysis
Test Code: 6371

This test can only be performed if there is a previously identified familial mutation.
CFTR Sequence Analysis
Test Code: 6372

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.


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

Detection Rate:
~ 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

Test Details
Test Code: 7600
Test Includes: For a list of mutations, please see CFTR-Related Disorders Mutations List.


Special Notes: 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.

References:
Genetics Home Reference - Cystic Fibrosis
Genetics Home Reference - Congenital Bilateral Absence of the Vas Deferens
Technical Information
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.
Gene Name: CFTR
Protein Name: Cystic fibrosis transmembrane conductance regulator
Test Type: Mutation Analysis
Sample & Shipping Information
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
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81220x1


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