Molecular Investigations

Μοριακός Έλεγχος

Molecular diagnosis is a modern and significant tool that enhances our understanding of the body’s function at the molecular level. It helps identify underlying causes of fertility disorders and reproductive challenges, detects and prevents hereditary genetic disorders and syndromes, and provides highly reliable confirmation of genetic disease diagnoses.

Available Tests:

  • Karyotype (conventional and molecular – Array CGH)
  • Cystic Fibrosis Mutations (covering 99% of population variants)
  • Fragile X (FMR1) Testing
  • Thrombophilia Panel – 13 Mutations: Factor V (Leiden_G1691A), Factor V (R2_H1299R), Prothrombin (FII, G20210A), Homocysteine (MTHFR C677T & A1298C), Factor XIII (V34L), Fibrinogen-β (-455 G>A), GPIIIa L33P (HPA-1), Plasminogen Activator Inhibitor-1 (PAI-1 4G/5G), Angiotensin-Converting Enzyme (ACE I/D), Apolipoprotein E (E2/E3/E4), Apolipoprotein B (R3500Q), GPIa C807T
  • Genetic Disease Testing: α- & β-Thalassemia, Achondroplasia, Hypochondroplasia, Congenital Adrenal Hyperplasia, Muscular Dystrophy, Hearing Loss
  • Carrier Screening (22 Genetic Disorders): alpha-/beta-Thalassemia, delta-beta Thalassemia, Cystic Fibrosis, Fragile X Syndrome, Non-Syndromic Hearing Loss (GJB2 & GJB6), Sickle-Cell Disease, Spinal Muscular Atrophy, Tay-Sachs, Bloom Syndrome, Canavan Disease, Duchenne/Becker Muscular Dystrophy, Familial Dysautonomia, Fanconi Anemia, Galactosemia, Gaucher Disease, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Mucolipidosis, Niemann-Pick Disease, Phenylalanine Hydroxylase Deficiency, Smith-Lemli-Opitz Syndrome
  • Y Chromosome Microdeletions
  • Sperm Aneuploidy Testing (FISH): Chromosomes 13, 16, 18, 21, 22, X, Y
  • Molecular pathogen detection: Molecular identification of aerobic & anaerobic pathogens and molecular antibiotic susceptibility testing.
  • STI Pathogen Detection by PCR: (Chlamydia trachomatis, Neisseria gonorrhoeae, Mycoplasma genitalium, Ureaplasma urealyticum, Ureaplasma parvum, Trichomonas vaginalis, Treponema pallidum, Mycoplasma hominis, Haemophilus ducreyi, Herpes Simplex Virus Type 1 & 2)
  • HPV PCR Typing: Detection and identification of 35 high- & low-risk HPV strains
  • Microbiome Analysis: Identification of symbiotic and pathogenic microorganisms using Next-Generation Sequencing (NGS)
  • Whole Exome Sequencing (WES): Sequencing of all protein-coding regions of the genome, which contain ~85% of known disease-related mutations, for identifying genetic causes of disorders
  • Hereditary Cancer Testing: Colorectal, prostate, pancreatic, gastric, melanoma, thyroid, kidney
  • Breast & Ovarian Cancer Genes: BRCA1, BRCA2, ATM, CHEK2, PALB2, RAD51C, RAD51D, NBN, CDH1, SMARCA4, TP53
  • Expanded Hereditary Cancer Panel: Breast, colorectal, prostate, pancreatic, ovarian, gastric, thyroid, kidney, endometrial cancers, and melanoma