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A universal array-based multiplexed test for cystic fibrosis carrier screening.

Jean A Amos¹, Philippa Bridge-Cook, Victor Ponek

¹Focus Diagnostics, 10703 Progress Way, Cypress, CA 90630, USA. jamoswilson@focusdx.com

Expert Review of Molecular Diagnostics

|December 20, 2005

Summary

Pan-ethnic cystic fibrosis carrier screening is recommended for all couples. The Tag-It assay effectively detects 40 cystic fibrosis transmembrane conductance regulator mutations, aiding population screening efforts.

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Area of Science:

Genetics
Molecular Biology
Medical Diagnostics

Background:

Cystic fibrosis (CF) is an autosomal recessive disorder with varying carrier frequencies across ethnicities.
High carrier rates in Caucasians and significant rates in other groups necessitate broad screening.
Advancements in mutation detection technology support widespread CF carrier screening.

Purpose of the Study:

To evaluate the Tag-It multiplex mutation platform for cystic fibrosis carrier screening.
To assess the performance of the Cystic Fibrosis Mutation Detection Kit in a high-volume laboratory setting.
To analyze the detection capabilities of 40 CFTR mutations for pan-ethnic screening.

Main Methods:

Utilized the Tag-It multiplex genotyping assay.

Related Experiment Videos

Employed the Cystic Fibrosis Mutation Detection Kit to identify CFTR mutations.

Assessed assay performance in a genetics reference laboratory conducting high-volume screening.

Main Results:

The Tag-It assay successfully detected a panel of 40 cystic fibrosis transmembrane conductance regulator (CFTR) mutations.
This panel includes the 23 mutations recommended by the ACMG and ACOG.
The assay also identified 16 additional potentially common CFTR mutations.

Conclusions:

The Tag-It cystic fibrosis assay is a viable tool for high-volume, pan-ethnic carrier screening.
This platform supports current recommendations for comprehensive cystic fibrosis carrier identification.
Effective screening strategies are crucial for managing the genetic burden of cystic fibrosis.