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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)