Improving genetic diagnosis through exome sequencing
Genetic cohort study in humans
Library updated:
What was investigated and what was found?
Exomes from 96 cases of NOA with negative routine genetic tests were examined; a potentially causal defect was identified in 22 individuals.
Interpreting the findings
Interpretation is needed at the gene and variant level; genetic findings do not all indicate the same surgical outcome.
How can you prepare for a consultation?
If you would like to discuss a genetic study, use any existing genetic and testicular pathology reports to frame your questions. Ask whether it concerns the same gene or variant, how certain the interpretation is, and how much outcome evidence supports it. Identifying a mechanism does not establish an available treatment.
Let us begin with your diagnosis, previous findings and goals as a couple. You can request an initial consultation with Prof. Dr. Mehmet Çolakoğlu to discuss what this research means for your own situation.
Use this form to request an appointment, arrange an initial consultation or ask a general question. Prof. Dr. Mehmet Çolakoğlu’s team will contact you.
