Department of Clinical Genetics


Personnel:


RNDr. Regína Lohajová Behulová, PhD. (regina.behulova[at]ousa.sk)

Head of the Department

Katarina Zavodna

RNDr. Katarína Závodná, PhD. (katarina.zavodna[at]ousa.sk)

Deputy Chief

Olivia Hamidova

Olívia Hamidová, M.D. (olivia.hamidova[at]ousa.sk)

Clinical Geneticist

Ludmila Vavrova

Ing. Ľudmila Vavrová, PhD. (lvavrova[at]ousa.sk)

Tomas Slamka

Mgr. Tomáš Slamka (tomas.slamka[at]ousa.sk)

Lenka Dolesova

Mgr. Lenka Dolešová (lenka.dolesova[at]ousa.sk)


Aster Alemayehu

RNDr. Aster Alemayehu, PhD.(aster.alemayehu[at]ousa.sk)


Aster Alemayehu

Mgr. Daniela Žideková (daniela.zidekova[at]ousa.sk)



Aster Alemayehu

Mgr. Lukáš Šebest (lukas.sebest[at]ousa.sk)



Laboratory Technicians:

Jana Štohlová (jana.stohlova[at]ousa.sk)

Iveta Glozneková

Mgr. Jaroslava Gregorová

Beatrix Jánošová

Ružena Kozlová

Mgr. Žofia Svoreňová

Jana Némethová


Available Tests


Hereditary syndromes:


Hereditary Breast and Ovarian Cancer (HBOC; BRCA1 and BRCA2 genes)

Hereditary Breast and Ovarian Cancer (HBOC), Li-Fraumeni syndrome, familial prostate cancer (CHEK2 gene)

Hereditary form of medullary carcinoma (MEN 2; RET gene)

Hereditary malignant melanoma (HMM; CDKN2A gene)

Testing of microsatellite instability in colorectal tumors (MSI)

Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome; MLH1, MSH2, MSH6 genes, detection of large genomic rearrangements)

Hereditary diffuse gastric cancer (HDGC; CDH1 gene)

Hereditary chronic pancreatitis (HCP; PRSS1 and SPINK1 genes)

Hereditary angioedema (HAE; SERPING1 gene)

 

Somatic mutations in sporadic tumors:


Analysis of somatic mutations in KRAS/NRAS genes in metastatic colorectal cancer (codons 12, 13, 59, 61, 117, 146)

Analysis of somatic mutations in BRAF gene in papillary thyroid tumors & melanomas (codon 600)

Analysis of somatic mutations in EGFR gene in non-small cell lung carcinoma (exons 18-21)

Analysis of ALK gene rearrangements in non-small cell lung carcinoma

Prediction test of severe and lethal toxicity of fluoropyrimidines (DPYD analysis)

 

Analysis of diagnostic markers


Non-invasive screening of colorectal cancer from peripheral blood – analysis of Septin9 gene methylation

Diagnosis of lung cancer – analysis of SHOX2 gene methylation

Analysis of IDH1 (codon 132) and IDH2 genes (codon 172) in patients with glioblastomas

 

Analysis of human papillomaviruses (HPV) and Chlamydia/Neisseria infections


High-risk HPV testing (Cobas® 4800 HPV Test)

Testing and genotyping of high/low-risk HPV viruses

Identification of malignant precursors by testing for expression of E6/E7 HR-HPV oncogenes

Analysis of methylation of genes associated with cancer progression (PreCursor-M test; CADM1, MAL, miR124-2 genes)

Analysis of Chlamydia trachomatis and Neisseria gonorrhoeae infections

 

Certification

 


EMQN 2015

NGS 2015

RAS 2014

RAS/EGFR/BRAF 2014

HPV 2012

KRAS 2012

EMQN/KRAS 2012

KRAS 2011

KRAS 2010

EMQN 2011

EMQN 2010

EMQN 2009

EMQN 2008

HPV 2015

HPV 2016
dsds
EMQN 2015 autumn