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Genetic characterisation of male infertility via exome sequencing

Pictogramme horloge Laure RAYMOND Pictogramme horloge March 2019
Between 10% and 15% of couples who want to have children
can be faced with fertility problems

In around half of cases, the problems originate on the male side.
A significant proportion of male infertility remains unexplained,
while genetic infertility could affect close to 1 in 40 men.

The standard genetic assessment includes testing for karyotype anomalies, Y chromosome microdeletions and CFTR gene mutations, and can identify the cause of 20% to 30% of azoospermia and oligozoospermia (complete absence and abnormally low number of spermatozoa in the semen respectively). 70% to 80% of cases remain unexplained.

The Eurofins Biomnis laboratory has been offering exome sequencing for over two years.

This technique sequences the coding regions of genes that include over 95% of mutations currently identified as medically relevant. When used in testing for male infertility, it can increase the aetiological diagnosis rate, as over 1,000 genes are expressed in the testes. What is new about this approach, compared with tests currently available and gene panels in particular, is the fact that all of the genes are targeted and the results can be interpreted and updated in light of the latest discoveries.

The results are then used to make a genetic diagnosis, and, in time, make a prognosis of the success of a testicular biopsy or IVF.

The Eurofins Biomnis laboratory works closely with well-known university hospitals active in the field of male infertility, to provide couples with the best guidance and treatment according to the latest research.

This test is available in the catalogue from 01.01.2019

Eurofins Biomnis analysis code: EXOI
Turnaround time: 6 weeks
Pre-analysis: 5 mL EDTA plasma
Fee: On request
Documents to be included: R51-INTGB


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