Molecular Genetics Department

Genetic Diseases

• a-thalassemia mutation
• b-thalassemia mutation
• Cystic fibrosis mutation
• Achondroplasia
• Hypochondroplasia
• Hereditary deafness
• Spinal Muscular atrophy
• Duchenne muscular dystrophy
• 21-Hydroxylase Deficiency (frequent mutations and deletion/duplication analysis on CYP21A2 gene)
• Alstrom Syndrome (ALMS1 gene, exons 8, 10 and 16)
• Familial Transthyretin Amyloidosis (sequence analysis of TTR gene)
• Angelman Syndrome (sequence analysis of UBE3A gene)
• Bardet-Biedl Syndrome (BBS1 gene, M390R mutation)
• Barth Syndrome (sequence analysis of TAZ/G4.5 gene)
• Beckwith-Wiedemann Syndrome (KCNQ1OT1 and H19 methylation)
• CADASIL (NOTCH3 gene, exons 2 to 6 and 11)
• Celiac disease (HLA-DQ/DR)
• Charcot-Marie-Tooth Disease type 1B (sequence analysis of MPZ gene)
• Charcot-Marie-Tooth Disease type 1C (sequence analysis of LITAF gene)
• Charcot-Marie-Tooth Disease type 1 C (sequence analysis of LITAF gene), prenatal
• Charcot-marie-Tooth Disease type 1E (sequence analysis of PMP22 gene)
• Charcot-Marie-Tooth Disease type 2E (sequence analysis of NEFL gene)
• Charcot-Marie-Tooth Disease type 2K/4A (sequence analysis of GDAP1 gene)
• Charcot-Marie-Tooth Disease X-linked (sequence analysis of GJB1 gene)
• Charcot-Marie-Tooth Disease/HNPP (deletion/duplication analysis of PMP22 gene)
• Cohen Syndrome (COH1 gene, exon 23)
• Congenital Deafness (sequence analysis of GJB2 gene)
• Congenital Deafness (sequence analysis of GJB6 gene, AD)
• Congenital Deafness (deletions on GJB6 gene)
• Congenital Deafness (sequence analysis of OTOF gene)
• Congenital Deafness (deletion/duplication analysis of GJB2, GJB6, GJB3, POU3F4 and WFS1 gene)
• Crohn Disease (mutations on NOD2/CARD15 gene)
• Fabry Disease (sequence analysis of GLA gene)
• Familial Mediterranean Fever (frequent mutation of MEFV gene)
• Fragile X Syndrome (FMR1 gene, conventional PCR)
• Fragile X Syndrome (FMR1 gene, msTP-PCR)
• Fraser Syndrome (FREM2 gene, exon 6)
• Friedreich Ataxia (FXN gene, detection of expanded GAA triplet-repeat)
• Fructose intolerance (target mutations analysis of ALDOB gene)
• Gilbert Syndrome (frequent mutations of UGT1A1 gene)
• Hereditary Hemochromatosis (frequent mutations of HFB gene)
• Hypertrophic Cardiomyopathy (selected exons of MYH7, MYBPC3, TNNT2 and TNNI3 genes)
• LEOPARD Syndrome (frequent mutations of PTPN11 gene)
• Li-Fraumeni Syndrome (TP53 gene, exons 4 to 9)
• Myotonic dystrophy type 2 (ZNF9 gene)
• Neurofibromatosis type I (deletion/duplication analysis of NF1 gene)
• Nonsyndromic X-linked Congenital Deafness DFN3 (sequence analysis of POU3F4 gene)
• Noonan Syndrome (frequent mutations of PTPN11 gene)
• Steinert Disease or Myotonic Dystrophy
• Rett Syndrome (MECP2 gene)
• Rett Syndrome (CDKL5 gene)
• Beckwith-Wiedemann Syndrome (ΚCNQ10T1 and H19 methylation)
• Bardet-Biedl Syndrome (CGC Mutation)
• Brugada Syndrome (SCN5A gene)
• Wilson Disease (sequence analysis of ATP7B gene)
• Wilson Disease (deletion/duplication analysis of ATP7B gene)
• Neurofibromatosis type I (sequence analysis of NF1, MRNA genes)
• Tuberous Sclerosis 1 and 2 (sequence analysis of TSC1 and TSC2 genes)
• Tuberous Sclerosis 1 (sequence analysis of TSC1 gene)
• Tuberous Sclerosis 2 (sequence analysis of TSC2 gene)
• Huntington Disease
• Marfan Syndrome
• Polycystic Kidney Disease (sequence analysis of PKD1 gene)
• Polycystic Kidney Disease (sequence analysis of PKD2 gene)
• Polycystic Kidney Disease (sequence analysis of PKHD1 gene)
• Holt-Oram Syndrome (sequence analysis of ΤΒΧ5 gene)
• Holt-Oram Syndrome (deletion/duplication analysis of ΤΒΧ5 gene)

Thrombophilia- Cardiovascular Diseases

• Factor V (Leiden_G1691A)
• Factor V (R2_H1299R)
• Homocysteine (MTHFR, C677T)
• Homocysteine (MTHFR, A1298C)
• Prothrombin (FII, G20210A)
• Factor XIII (V34L)
• Fibrinogen-b (-455 G>A)
• GPIIIa L33P (HPA-1)
• Plasminogen activation inhibitor-1 (PAI-1 4G/5G)
• Angiotensin-converting enzyme (ACE, I/D)
• Apolipoproteine E (E2/E3/E4)
• Apolipoproteine B (R3500Q)

Hereditary Cancer- Solid Tumors- Blood Cancer

• Breast cancer genes BRCA1/BRCA2
• K-RAS gene
• BRAF gene
• AML1/ETO quantification
• BCR/ABL (P190) quantification
• BCR/ABL (P210) quantification
• CFBF/MYH11 quantification
• Acute Myeloid Leukemia with Normal Cytogenetics (selected exons of MLL, FLT3, NPM1 and CEBPA genes)
• EGFR gene (sequence analysis of axons 18 to 21)
• Familial Adenomatous Polyposis (sequence analysis of APC gene)
• IGK clonal rearrangement
• JAK2 gene (mutations on exon 12)
• JAK2 gene (V617F mutation)
• Microsatellite instability
• Multiple Endocrine Neoplasia type 2 (frequent mutations of RET gene)
• Osteosarcoma (TP53 gene, exons 4 to 9)
• p53 tumural protein (TP53 gene, exons 4 to 9)
• PML/RARa fusion gene quantification
• RT-PCR del(1p32)(SIL/TAT1)
• RT-PCR FIP1L1-PDGFRa
• RT-PCR t(1;19)E2A/PBX1)
• RT-PCR t(12;21)(TEL/AML1)
• RT-PCR t(15;17)(PML/RARa)
• RT-PCR t(4;11)(MLL/AF4)
• RT-PCR t(8;21)(AML1/ETO)
• RT-PCR t(9;22)(BCR/ABL)
• RT-PCR t/inv(16)(CBFB/MYH11)
• RT-sequencing BCR/ABL
• Acute Myeloid Leukemia (C-Kit gene, exons 8, 11 and 17)
• t(11;14)(IGH/BCL1) rearrangement
• Tamoxifen pharmacogenetics
• TCRB clonal rearrangement
• TCRG clonal rearrangement
• TEL/AML1 fusion gene quantification

Molecural Cytogenetics

• Molecular caryotype (Array CGH)
• Rapid aneuploidy Detection (QF PCR)
• Molecular identification of microdeletion syndromes with MLPA or FISH
• Subtelomeric testing with MLPA
• Uniparental disomy (UPD)
• Y-Microdeletions test

Molecural Microbiology

• Μycobacterium tuberculosis
• Mycoplasma hominis
• Mycoplasma pneumoniae
• Neisseria gonorrhoeae
• Toxoplasma gondii
• Ureaplasma urealyticum
• Chlamydia pneumonia
• Chlamydia trachomatis
• Quantification of microbial/Viral DNA
• Cytomegalovirus (CMV)
• Rubella virus
• Hepatitis B virus (ΗΒV)
• Hepatitis C virus (HCV)
• Human Papilloma Virus, HPV-DNA test
• Human Papilloma Virus, HPV-mRNA test
• Εpstein-Barr virus
• Herpes Simplex virus 1 (HSV- 1)
• Herpes Simplex virus 2 (HSV- 2)
• Varicella Zoster virus / Herpes Zoster virus (VZV/HHV-3)
• Herpes virus 6 (HHV-6)
• Quantification of viral RNA

Genome Wide Analysis/ Gene Panel

• Whole Exome Sequencing (Exon control of all human genes)
• Postnatal Clinical Exome Sequencing (Postnatal control of exons of all genes of known human clinical significance)
• Prenatal Clinical Exome Sequencing (Prenatal control of exons of all genes of known human clinical importance)
• Gene Panel by Next Generation Sequencing (Gene selection according to clinical evaluation)