Hereditary Genetic Testing

The MassARRAY provides a cost-effective and flexible method for a variety of hereditary genetic testing applications. Quickly characterize variants associated with inherited diseases with high levels of accuracy and reproducibility. Choose a commercially available panel or create a custom panel to fit your specific needs.

Flexible Solutions for Cystic Fibrosis Mutation Analysis

Cystic fibrosis is one of the most common life-threatening genetic conditions, with as many as 1 in 25 serving as a carrier for the autosomal recessive condition.1,2  Many CF genotyping assays are expensive and restrict assay content to a limited number of targets that are only applicable in certain populations. Agena provides two ways to access flexible and cost-effective CF mutation analysis:

1The iPLEX Pro Cystic fibrosis panel is a commercially available RUO panel with broad variant detection and is a great choice for many labs.

2For tailored variant content, create a custom panel by using our online assay design software or partnering with our scientists for assay development and verification services. Contact us to learn more about how to create a custom panel.

iPLEX Pro Cystic Fibrosis Panel

The iPLEX Pro Cystic Fibrosis panel detects over 74 of the most common disease-causing variants of the CFTR gene. It includes the 23 mutations recommended by ACMG and ACOG guidelines, and other variants with allele frequency >0.1%.

Download the Cystic Fibrosis product sheet to see a list of variants included in the panel.

Custom Hereditary Genetics Assay Design

The MassArray system is perfectly suited for numerous hereditary genetics applications. Create custom panels on your own using our assay design software or partner with our scientists for assay development and verification services. Contact us learn more about custom panel design with one of our experts.

References
1. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, et al. (2001) Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3(2): 149-54  2. Langfelder-Schwind E, Kloza E, Sugarman E, Pettersen B, Brown T, et al. (2005) Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. JGenet Couns 14(1):1-15