Multiple endocrine neoplasia – MEN1

This disorder manifests itself with multiple tumors, mainly found on the parathyroid gland but also on the pituitary gland, pancreas and other non-endocrine glands/tissues, affecting the respective hormone levels. Diagnosis is usually made by the age of 25 years and is confirmed through molecular genetic testing for mutations of the MEN1 gene. Pathological mutations are detected in a proportion of 90% of familial cases and 60% of sporadic cases. Presymptomatic testing may be applied for members of the patient’s family through detection of the known pathological mutation previously identified in the affected family member.

We perform automated bi-directional fluorescent DNA sequencing of all coding exons and intron/exon boundaries of the MEN1 gene, as well as MLPA analysis for the detection of deletions/duplications non-detectable by DNA sequencing), thus detecting >98% of all pathogenic mutations.