Epigenetic LAB

The "Epigenetic- Lab” performs the molecular analysis of various human diseases associated with epigenetic and / or genetic alterations.

In particular, the diagnostic activity of the “Epigenetic-Lab” includes 2 macro-areas.

BRAIN TUMORS

Molecular characterization of adult brain cancer.

Using an innovative approach, based on the analysis of the epigenomic profile (METHYLOME), it is possible to characterize a brain tumor.

This investigation, validated using reference technologies (proficency test), allows us to answer 3 fundamental diagnostic questions for the neuro-oncologist who must define the "management" of the patient with glioma /glioblastoma

These are:

                        MGMT methylation status (MSP + Methyloma)

                        IDH1-IDH2 mutation (direct sequencing + Methyloma)

                        1p-19q co-deletion (MLPA + Methyloma)

Furthermore, the genome wide methylome analysis allows us to obtain a series of additional information that help one to define and characterize the tumor sample (gene amplifications and loss of genes, such as EGFR amplification, CDKN2A/ B deletion, presence of H3K27 mutation, H3FA ...)

We also provide methylome profiles and mutation status of hTERT gene in Meningiomas, that together represent an unique tool for early recognition of aggressive tumor features and high recurrence risk, thus allowing a prompt and appropriate therapy.

GENETIC DISEASES

With MS-MLPA technique we provide genetic and epigenetic data for loci associated with various imprinting disorders (IDs).

 In particular:

            • Detection of epigenetic and genetic alteration in the region 15q11-q13 (diagnosis of Prader Willi Syndrome /Angelman's Syndrome)

            • Detection of epigenetic and genetic alteration in the 11p15.5 (Beckwith Wideman's /Silver Russel Syndromes)

            • Detection of uniparental disomy at chromosome 7 (UPD7) associated with rare forms     of Silver Russell Syndrome.

             • Targeted methylation analysis, for genetic diseases linked to DNA methylation defects

Identification of genetic mutations associated with Fabry disease, an X-linked lysosomal disorder, associated with defects in the alpha galactosidase A enzyme.

The investigation is carried out by direct sequencing of all exons (7) of the GLA gene and validation by Next-Generation sequencing.

The enzymatic assay that evaluates the activity of GLA is usually performed to screen potential affected males before genetic analysis.