FSL - Laboratorio di Medicina Genomica UILDM

Genomic Medicine Lab (UILDM)

Areas of Investigation 

The Laboratory of Molecular Genetics investigates the characterization of neuromuscular diseases, with a focus on facioscapulohumeral muscular dystrophy (FSH). As part of FSH effort the Laboratory has developed Telethon research projects in collaboration with several Italian clinical and genetic centers.

The Laboratory is also involved in the identification of genetic factors responsible for the development, progression and susceptibility to eye diseases in Mendelian and multifactorial etiology. Principal diseases examined include retinitis pigmentosa, age-related macular degeneration, Stargardt disease and Best's disease.

  • Adelaide and Meath Hospital, Dublin (Ireland)
  • Agostino Gemelli University Hospital, Rome (Italy)
  • Arthritis Research UK Centre for Genetics and Genomics, University of Manchester (United Kingdom)
  • Centre for Biostatistics, Institute of Population Health, University of Manchester (United Kingdom)
  • CogGene Group, Discipline of Biochemistry and School of Psychology, National University of Ireland, Galway (Ireland)
  • Department of Clinical Medicine, Institute of Molecular Medicine, Trinity College, Dublin (Ireland)
  • Department of Life Sciences, University of Modena and Reggio Emilia, Modena (Italy)
  • Department of Public Health and Clinical Medicine, Rheumatology, University Hospital, Umeå (Sweden)
  • Department of Rheumatology, St. Vincent's University Hospital, UCD School of Medicine and Medical Sciences and Conway Institute of Biomolecular and Biomedical Research, University College, Dublin (Ireland)
  • Dermatology Centre, Salford Royal NHS Foundation Trust, University of Manchester, Manchester Academic Health Science Centre (United Kingdom)
  • Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Queensland (Australia)
  • Division of Rheumatology and Fraunhofer IME-Project-Group Translational Medicine and Pharmacology, Goethe University, Frankfurt (Germany)
  • Institute of Human Genetics, University of Erlangen-Nuremberg (Germany)
  • JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, Cambridge Institute for Medical Research, University of Cambridge (United Kingdom)
  • Kellgren Centre for Rheumatology, Central Manchester Foundation Trust, NIHR Manchester Biomedical Research Centre (United Kingdom)
  • Laboratory of Medical Genetics, Tor Vergata University of Rome (Italy)
  • Monash University, Melbourne (Australia)
  • National Centre of Services and Research for the Prevention of Blindness and Visual Rehabilitation of Visually Impaired, Agostino Gemelli University Hospital, Rome (Italy)
  • NIHR Leeds Musculoskeletal Biomedical Research Unit, Leeds Institute of Molecular Medicine, University of Leeds (United Kingdom)
  • NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester Foundation Trust and University of Manchester, Manchester Academy of Health Sciences (United Kingdom)
  • Regional Reference Center for the Diagnosis and Treatment of Retinal dystrophies, University Hospital Umberto I, Rome (Italy)
  • Rheumatology Department, Haywood Hospital, Health Services Research Unit, Institute of Science and Technology in Medicine, Keele University (United Kingdom)
  • Royal National Hospital for Rheumatic Diseases and Department of Pharmacy and Pharmacology, University of Bath (United Kingdom)
  • Telethon Foundation
  • UILDM - Italian Union against Muscular Dystrophy
  • UOSD - Patologie Retiniche, Tor Vergata University Hospital Foundation, Rome (Italy)

Laboratory of Genomic Medicine (UILDM)​

Via Ardeatina, 354 – 00179 Rome (Floor 0)

T. (+39) 06.5150.1550   |   F. (+39) 06.5150.1551   |   M. (+39) 389.9227050   |   medicina.genomica@hsantalucia.it


  • ACE (I/D)
  • AGT (Met235Thr)
  • APO B (R3500Q)
  • APO E (Cys112Arg + Arg158Cys)
  • Beta Fibrinogen (-148C>T and -455G>A)
  • Factor 13 (Val34Leu)
  • Factor 2 (prothrombin G20210A)
  • Factor 5 (H1299R)
  • Factor 5 (R306T)
  • Factor 5 (Y1702C)
  • Factor 5 Leiden (G1691A)
  • HPA1/GPIIIA (T1565C)
  • MTHFR A1298C
  • MTHFR C667T
  • PAI-1 (-675 4G/5G)



  • CGH array
  • FISH for study of microdeletions of subtelomeric regions
  • FISH for study of PMP22 (CMT/HNPP)
  • FISH painting
  • Karyotype

Aneuploidy screening

  • G-TEST (non invasive screening – NIPT)
  • QF-PCR


Molecular genetics

Routine diagnostics

  • Cystic fibrosis (extended analysis)
  • HLA B27 genotyping
  • HLA celiac disease genotyping (DQ2/DQ8)
  • HLA I class A genotyping
  • HLA I class B genotyping
  • HLA I class C genotyping
  • HLA II class DQ e DR genotyping
  • Peripheral blood karyotype

Rare diseases

  • Achondroplasia
  • Beta Thalassemia main mutations (22)
  • Congenital deafness (Connexin 26 - CX26 – coding region)
  • Congenital deafness (Connexin 30 - CX30)
  • Congenital deafness (Connexins 26 and 30 - CX26, CX30)
  • Cystic fibrosis (standard analysis, extended analysis, second level, third level)
  • Ectodermal dysplasia (EDA1)
  • Fragile X Syndrome or Martin-Bell Syndrome (FRAXA)
  • Galactosemia
  • Genetic deafness due to aminoglycosides (A1555G)
  • Hemocromatosis (HFE) (C282Y/ H63D)
  • Hypochondroplasia
  • Molecular analysis of BRCA1 e BRCA2 genes
  • Molecular analysis of PRSS1 gene (pancreatitis)
  • Molecular analysis of TCOF gene 1 (Treacher-Collins Syndrome)
  • Molecular diagnosis of SPINK1 gene (pancreatitis)
  • Myotonic dystrophy type 1 and 2 (DM1/DM2)
  • Norrie’s disease
  • Spinal muscular atrophy (SMA)
  • Uniparental disomy (Prader-Willi, Angelman, Beckwith-Wiedeman, Silver-Russell Syndromes)
  • X-linked myotubular myopathy

Carrier’s Tests

  • Cystic fibrosis (extended analysis)
  • Fragile X Syndrome (FRAXA)
  • Spinal muscular atrophy (SMA)


  • ABC HSR (Abacavir therapy hypersensitivity)
  • IL28B gene polymorphisms

Susceptibility tests

  • ESR1 and ESR2 gene polymorphisms (IVS1-397 T/C; 39*G>A)
  • Molecular test for non alcoholic liver steatosis (NAFLD)


  • Analysis of genes responsible for the recessive forms of Parkinson’s disease (PARK-2, PARK-6, PARK-7)
  • Analysis of genetic deletions responsible for Parkinsonisms
  • Analysis of variables responsible for dominant forms of Parkinson’s disease (PARK-1, PARK-8, GBA)
  • APO-E polymorphism genotyping
  • Cingoli muscular dystrophy type 2B (gene DYSF)
  • Cingoli muscular dystrophy type 2C (gene SGCG)
  • Cingoli muscular dystrophy type 2I (gene FKRP)
  • Duchenne/Becker muscular dystrophy
  • Emery-Dreifuss X-linked Dystrophy (gene EMD)
  • Extended molecular analysis of cingoli muscular dystrophy (genes MYOT, LMNA, CAV3, DES, DNAJB6, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TCAP, FKRP, ANO5, FKTN)
  • Facioscapulohumeral muscular dystrophy (FSHD)
  • Facioscapulohumeral muscular dystrophy type 2 (FSHD2)
  • Familial Alzheimer's disease (FAD) test (level I and level II analysis)
  • Hereditary spastic paraplegia (HSP)


  • Celiac susceptibility test (HLA DQ2, DQ8, DR4)
  • Lactose intolerance test (LCT gene)


Ocular Genetics

  • Age-related macular degeneration (DMLE)
  • Best’s disease
  • Retinitis Pigmentosa (level I and level II analysis)
  • Stargardt’s disease


Paternity test and forensic genetics

  • Paternity test (full testing, mother-child, presumed father, including statistical analysis of the result)
  • Zygosity test


Male Infertility (olygo-azoospermia)

  • Chromosome Y microdeletions (AZF)


Female infertility

  • Ab ANA Anti-nucleus
  • Ab anti Beta2-Glycoprotein IgM and Ab anti Beta2-Glycoproteina IgC
  • Ab anti cardiolipin IgG
  • Ab anti cardiolipin IgM
  • Ab anti-thyroglobulin
  • Ab anti-thyroperoxidase
  • Ab ASMA Anti-smooth-muscle
  • Ab HCV
  • Ag HBs
  • Anti Chlamydia IgG and Anti Chlamydia IgM antobodies
  • Anti spermatozoa ASA
  • Anti-Muller hormone AMH
  • Blood group and Rh factor
  • CA125, CEA, CA19-9
  • Citomegalovirus IgG, IgM
  • Coagulation factors analysis: factor 5 Leiden / factor 2 / MTHFR (C677T) / MTHFR (A1298C)
  • DHEA-S
  • Follicle stimulating hormone FSH
  • Free S protein
  • FT3, FT4
  • Functional antithrombin III
  • Functional coagulation protein C
  • G-6-PDH
  • Glycaemia (serum)
  • HBc Ab (IgG-igM)
  • Hemoglobin A2, Hemoglobin F
  • HIV
  • Homocysteine
  • Insulin
  • LAC lupus anti-coagulant
  • Orthostatic Plasmatic Aldosterone
  • Progesterone
  • Prolactin
  • Rosolia IgG, IgM-
  • Testosterone
  • Toxoplasma IgG, IgM-
  • VDRL and TPHA


Virus Analyses

  • Chickenpox Zoster DNA
  • Chlamydia Trachomatis qualitative
  • Chlamydia Ureoplasma+ Neisseria+Micoplasma+Trichomonas
  • Citomegalovirus qualitative
  • Citomegalovirus quantitative
  • HBV DNA qualitative and quantitative
  • HCV qualitative and quantitative
  • HCV RNA (genotype)
  • HIV RNA qualitative and quantitative viremia
  • HPV RNA oncogenic risk
  • HPV screening
  • HPV screening and genotyping
  • HPV typing
  • HSV 1 and 2 DNA qualitative viremia
  • Micobacterium Tubercolosis qualitative
  • Neisseria Gonorrheae DNA qualitative test
  • Toxoplasma qualitative and quantitative
  • Urogenital Mycoplasma (genome)