Molecular Investigations

Molecular diagnosis is a modern imperative tool that enhances our understanding of the function of our body at molecular level, assists in distinguishing underlying causes for fertility and reproductive disorders, identifies and prevents hereditary genetic disorders and syndromes, but also importantly, finalizes with high sensitivity and specificity the diagnosis of genetic diseases.

• Karyotype
  Conventional and High Resolution Karyotype Testing (Array CGH)
• Non-Invasive Prenatal Testing (ffDNA Testing)
  Gender Identification and Detection of Vanishing Twin Syndrome, Down Syndrome (+21), Edwards Syndrome (+18), Patau Syndrome (+13), Triploidy, Turner Syndrome, Triple X Syndrome, Kleinefelter Syndrome, XYY Syndrome, 1p36 deletion Syndrome, Cri du chat Syndrome, Prader-Willi Syndrome, Angelman Syndrome, DiGeorge Syndrome /VCFS
• Molecular Cytogenetics – Structural Abnormalities and deletions
  Uniparental Disomy, Microdeletion Syndromes, Subtelomeric regions, Noonan Syndrome, Skeletal Dysplasias, Next Generation Sequencing (NGS) & Whole Exome Sequencing (WES)
• Genetic Diseases
  α-Thalassemia, β-Thalassemia, Cystic Fibrosis (for the 99% of identified population mutations), Fragile X Syndrome, Achondroplasia, Hypochondroplasia, Congenital Adrenal Hyperplasia, Muscular Dystrophy, Deafness)
• Genetic Markers
  HLA Typing and Detection, Y chromosome microdeletions
• Thrombophilia
  Factor V (Leiden_G1691A), Factor V (R2_H1299R), Prothrombin (FII, G20210A), Homocysteine ​​(MTHFR, C677T), Homocysteine ​​(MTHFR, A1298C), Factor XIII (V34L), Fibrinogen G> β (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, R35 C807T
• Hereditary Malignancies
  Breast and ovarian cancer: BRCA1, BRCA2, ATM CHEK2, PALB2, RAD51C, RAD51D, NBN, CDH1, SMARCA4, TP53
  Extended screening: Breast, colon, prostate, pancreas, ovarian, stomach, thyroid, kidney, endometrial cancer and melanoma