Cystic fibrosis

Description

CFTR gene mutation screening (1st level, 2nd level, or full gene sequencing + MLPA).

Cystic fibrosis at fertility centers

Andrologists and Gynecologists often request 1st level screening of mutations in the CFTR gene at fertility centers. Pathogenic mutations in the CFTR gene cause a severe disease characterized by thickened exocrine secretions. The disease primarily affects the lungs but also the pancreas, liver, kidneys, and intestine. Among all rare diseases, cystic fibrosis is one of the most common, being the frequency of healthy carriers at about 1:25.

Classic and non-classic cystic fibrosis (CBAVD)

Fertility centers often request CFTR screening to exclude the couple’s reproductive risks for one of the most common genetic disorders, but also to ascertain the cause of azoospermia. A non-classic form of cystic fibrosis, caused by the combination of a severe pathogenic mutation and the hypomorphic allele 5T, leads to Congenital Bilateral Absence of Vas Deference (CBAVD or CAVD), which causes azoospermia in affected men.

1st Level, 2nd Level and Full Gene Analysis

Do with us the screening of the CFTR gene:

CFTR38: 1st level testing, including the screening of the most frequent 38 mutations of the Caucasian population. Diagnostic power: 85%. Residual risk of being a healthy carrier of a rare mutation: 1:165.

CFTR160: 2nd level testing, including the screening of the most frequent 160 mutations of the Caucasian population. Diagnostic power: 95%. Residual risk of being a healthy carrier of a rare mutation: 1:490.

CFTR1000: Full CFTR gene sequencing analysis + MLPA for large deletions/duplication testing. Diagnostic power: 99.9%. Diagnostic power: 95%. Residual risk of being a healthy carrier of a rare mutation: approx. zero.

Technical specifications

Method

Next Generation Sequencing, MLPA.

Sample specifications

DNA (at least 1μg), EDTA-blood (purple cap tube).

Timing

2 weeks (CFTR38), 3-4 weeks (CFTR160), 5-6 weeks (CFTR1000)

Availability

Per Professionisti e Laboratori: registrati qui per inserire il tuo 1-minute online order. Per Pazienti: inviare una richiesta a info@bredagenetics.com

Limitations

Depending on the level chosen, rarer mutations may not be detected.

Advice

To learn more about cystic fibrosis, its clinical signs and reproductive risk calculations, read our post Cystic fibrosis and CFTR-related disorders.

Other

At partner clinical laboratories. Genetic Counseling required to access the test (book it by us today).

1-Minute Online Order

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No minimum number of samples required!

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