Medical Genetics

Medical Genetics

The identification and diagnosis of hereditary diseases are the essential prerogative for the control of Pathology, for its treatment and its prevention. Progress on the knowledge of hereditary diseases and the increased availability of advanced technologies make possible the analysis of several genes-Disease.

Our laboratory uses DNA analysis techniques to identify and characterize a number of alterations in the genome, by diagnosing executables, both pre-natal and post-natal period, expanding the range of their investigations using the latest molecular biological methods.

The laboratory is now able to provide the following services in the field of: Medical Genetics, Molecular Genetics and Cytogenetics.

Prenatal genetic diagnosis

  • karyotype analysis of amniotic fluid samples, chorionic villus sampling, fetal blood and aborted material
  • prenatal diagnosis of aneuploidy of chromosomes 13,18,21, X, Y (FISH-QF-PCR)
  • Prenatal diagnosis of major inherited diseases
  • Early determination of fetal gender (10-12 weeks gestation) through blood sampling
  • genetic counseling service

Postnatal genetic diagnosis

  • karyotype analysis of peripheral blood sample
  • Screening Cystic Fibrosis (analysis of 37 major mutations present on Italian territory)
  • Screening coagulation factors (mutation analysis of the main factors of the clotting factor :: protombina II, Factor V Leiden, Factor V HR2, Factor XIII, b-fibrinogen, PAI-1, HPA-1, ACE, APOB, APOE, MTHFR mutations )
  • Diagnosis of Paternity/consanguinity (with informative value and/or coroner)
  • Screening and typing of Human Papilloma Virus (HPV DNA test)
  • Analysis of the main genetic factors linked to infertility male and female

Analysis of the following hereditary diseases and genetic risk factors

  • achondroplasia
  • Alpha-1-antitrypsin
  • Early-onset Alzheimer's Family (PSEN1-PSEN2; for gene)
  • Alzheimer (ApoE)
  • Sickle cell anemia
  • Molecular aneuploidy (21, X, Y) by means of Fluorescent Quantitative Polymerase Chain Reaction QF-PCR
  • Molecular aneuploidy (21, 18, 13, X, Y) by means of Fluorescent Quantitative Polymerase Chain Reaction QF-PCR
  • Spinocerebellar ataxias (Type 1,2,3,6,7)
  • Friedreich's ataxia
  • Spinal Muscular Atrophy Type 1 (SMA 1)
  • Charcot-Marie-Tooth X-Linked (CMTX1)
  • Uniparental Uniparental (syndromes Prader-Willi, Angelman, Beckwith-Wiedeman, Silver-Russell
  • Diatrofica dysplasia (SLC26A2)
  • Primary dystonia (DYT1)
  • dystrophy Myotonia
  • Duchenne-Becker Muscular Dystrophy (DMD/BMD) Linkage
  • Duchenne-Becker Muscular Dystrophy (DMD/BMD)
  • Dystrophy Tracks -LGMD-1C (CAV-3)
  • Dystrophy Tracks -LGMD-2C (SGCG)
  • Hemochromatosis (HFE)
  • hemophilia A
  • Analysis of automated sequence of the Factor VIII gene
  • Epidermolysis Bullosa Simplex-Dowling-Meara
  • Epidermolysis Bullosa Simplex-Dowling-Cockayne
  • Epidermolysis Bullosa Simplex-Dowling-Hyperpigmentation
  • phenylketonuria
  • Cystic Fibrosis (Analysis of 33 mutations)
  • Cystic Fibrosis (Analysis of 70 mutations)
  • Cystic Fibrosis (200 mutations Analysis)
  • Cystic Fibrosis (CFTR entire gene analysis)
  • I glutaric aciduria (GCDH)
  • Glucose 6 phosphate dehydrogenase (G6PD)
  • Huntington's disease
  • hypochondroplasia
  • Lesch-Nyhan syndrome (HPRT1)
  • Medium Chain Acyl-CoA Dehydrogenase (MCAD) deficiency
  • retinitis Pigmentosa
  • Rett syndrome
  • Congenital deafness (Connexin 26-CX26; Main mutations)
  • Congenital deafness (Connexin 26-CX26; Entire coding region)
  • Spinal and Bulbar Muscolar Atrophy (SBMA)
  • SRY (Sex-determining Region Y)
  • B thalassemia (Main mutations [23])
  • B thalassemia (complete Gene)
  • Fragile X syndrome or Martin-Bell (FRAXA/FRAXE)
  • Wiskott-Aldrich Syndrome (WAS)

Male infertility (oligo azoospermia)

  • Chromosome Y microdeletions (AZF)
  • 5T polymorphism CFTR gene intron 8
  • Androgenic receptor (AR)
  • apoptosis tests
  • Panel Male Infertility (Cystic Fibrosis 33 mut., Polymorphism 5T, Y microdeletion)


  • Vitamin D receptor (VDR)
  • Collagen type 11 (COL1A1)

Congenital endocrinopathies

  • 21 hydroxylase (CYP21)
  • 5-a-reductase (SRD5A-2)
  • Aromatase (p450)
  • Congenital Adrenal hypoplasia - AHC (DAX1)
  • Androgenic receptor (AR) gene
  • Estrogen Receptor (ER)
  • Thyroid Hormone Receptor (THR)

Cardiovascular diseases

  • Panel Thrombophilia Hypertension (FV, FII, MTHFR C677T, MTHFR 1298 A/C, AGT, ACE)
  • Thrombophilia Panel 1 (Fatt.V Leiden, Fatt.VY 1702C, Fatt.II)
  • Thrombophilia Panel 2 (FV, FII, MTHFR C677T, MTHFR 1298 A/C)
  • Angiotensin Convertine ENZYMES (ACE)
  • Cardiac test (AGT)
  • Analysis of the Factor V Leiden mutation of coagulation
  • Analysis of mutation of the Factor II (prothrombin gene)
  • Gene mutation analysis methylenetetrahydrofolate reductase (MTHFR) mut.C677T
  • Gene mutation analysis methylenetetrahydrofolate reductase (MTHFR) mut.1298A/C
  • Type III hyperlipoproteinemia Family

Paternity investigations and forensic genetics

  • paternity investigations (Full Analysis, Mother-Son-Alleged Father, including statistical processing of the result)
  • Mitochondrial DNA
  • Analysis of Nuclear DNA (forensic application)
  • the zygosity tests