Exome sequencing - Male infertility - Screening for mutations involved in male infertility
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EXOI
Synonyms
- Genetics of infertility
- Infertility gene panel
- Infertility exome
Clinic significance
Genetic characterization of male infertility and exome sequencing.
10-15% of couples in a child's desire may face fertility problems.
In about half of the cases, a male component is found.
The classical genetic assessment, which includes research for karyotype anomalies, Y-chromosome microdeletions, and mutations in the CFTR gene, or even the ADGRG2 gene, explains 20 to 30% of the cases of azoospermies and oligozoospermies (respectively total absence of spermatozoa in sperm or abnormally reduced amount)
A significant proportion of male infertility remains unexplained, whereas infertility of genetic origin could be about 1 man out of 40.
Exome sequencing has been proposed in the Eurofins Biomnis Laboratory for more than 2 years. This technique sequences the coding regions of genes, which contain more than 95% of mutations known to date to have a clinical impact. Its application to male infertility will increase the rate of etiological diagnosis, especially since more than 1000 genes are expressed in the testes, and between one and three new genes are identified each month as having a clinical interest. The originality of this approach, with respect to currently proposed tests and in particular gene panels testing, lies in the fact that all the genes are targeted and that the interpretation of the results can be done by integrating the most recent discoveries.
The results will make it possible to make a genetic diagnosis, and ultimately to establish a prognosis for a successful testicular biopsy or even IVF.
The Eurofins Biomnis laboratory works in close collaboration with recognized hospital-university actors in the field of male infertility (Pr P. Ray and Pr C. Coutton), in order to offer couples the most appropriate care with the most up-to-date knowledge.
Prenalytics
- 1 x 5 mL (Sang total EDTA)
- EDTA whole blood (tube completely filled). 1 extracted DNA tube (minimum volume 50µL with a minimum quantity of 1µg/500ng for the prenatal)
- Ambient temperature
Further information
- According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
- Trio whole exome sequencing assay requires an EDTA whole blood sample for each parent (mother and father)
- Please attach the specific clinical information sheet (R51-INTGB:Genetic characterization of male infertility )
- If the sample is transported at room temperature, the sample must reached our facility within 4 days. in case of longer transport time, please send the sample in refregirated condition.
- Please see the specific form N34- Whole exome sequencing
- Please inform us when an urgent or prenatal exome is expected.
Specific equipment available
K34 : Kit Exome
Documents to download
Methodology
Lib Twist, Seq Illumina 2x150 Novaseq 6000. Perf: # 98% at 30x on Refseq + 2 pb, sensibility > 99% (perf checked on GiaB, on refseq target +/-20 pb with >15 Mo pairs reads, and 95% covereged > 10X ). Exome with accreditation ISO1589, CE-IVD pipeline, data on secured HPD server.
Turnaround time
4 weeks for the interpreted exome excluding confirmatory analyses and 2 weeks to make the data available in seqone for the exome with interpretation interface
