NEUROGENETICA

Esami

  • Ataxias

                   - Friedreich ataxia
                   - (GAA)n quantitative analysis + FXN gene sequencing (NGS)
                   - SCA with repeat expansions
                   - SCA1-SCA3, SCA6-SCA7, SCA10, SCA12, SCA17, SCA36 ((repeat)n quantitative analysis)
                   - SCA15 (deletion detection)
                   - FXTAS (FRAXA/FMR1 premutation detection) (AmplideX FMR1 test (IVD CE))
                   - comprehensive NGS ataxia-HSP gene panel (204 genes incl. all dominant (SCA) and recessive (SCAR) ataxias and episodic ataxias (EA))

  • Spastic paraplegias

                  - comprehensive NGS ataxia-HSP gene panel (204 genes incl. all dominant and recessive spastic paraplegias)
                  - SPG4 & SPG7 intragenic deletion/duplication analysis

  • Peripheral neuropathies (CMT and related neuropathies)

                 - CMT1A/HNPP duplication/deletion analysis
                 - comprehensive NGS neuropathies gene panel (178 genes incl. all CMT and related neuropathies genes)

  • White Matter Disorders (leukodystrophies and leukoencephalopathies)

                 - PLP duplication analysis
                 - comprehensive NGS WMD gene panel (142 genes)

  • ALS & other motor neuron disorders

                - SMA:
                       - SMN1 deletion detection + SMN1 gene sequencing (NGS)
                       - SMN1 deletion detection in carriers
                       - SMN2 copy number analysis
                       - comprehensive NGS MND gene panel (78 genes)

  • Epilepsies and neuronal migration disorders

                      - comprehensive NGS epilepsy gene panel (192 genes)

  • Craniosynostosis and rasopathies

                    - comprehensive NGS craniosynostosis gene panel (111 genes)

  • Parkinson Disease

                   - comprehensive NGS PD gene panel (19 genes)

  • Dystonias

                  - comprehensive NGS DYT gene panel (34 genes)

  • Huntington Disease

                  - HTT (CAG)n quantitative analysis

  • Chorea-Acanthocytosis

                 - VPS13A (NGS, whole gene sequencing)

  • Neurodegeneration with Brain Iron Accumulation Disorders (NBIA)

               - comprehensive NGS NBIA gene panel (11 genes)

  •  Cerebrovascular diseases

             - CADASIL (NOTCH3), CARASIL (HTRA1) (NGS, whole gene sequencing)
             - Fabry Disease (GLA) (NGS)

  • Familial Hemiplegic Migraine

             - comprehensive NGS FHM gene panel (4 genes)

  • Mitochondrial Disorders (mtDNA)

            - mtDNA deletion(s) and depletion
            - mtDNA sequencing (NGS)

  • Mitochondrial Disorders (nuclear genes)

            - comprehensive NGS mito gene panel (289 genes)

  • Optic Atrophies

            - comprehensive NGS OPA gene panel (12 genes)

  • Sindrome dell’X-Fragile

            - FMR1 (FRAXA) (CGG)n quantitative analysis (1st level test) (AmplideX FMR1 test (IVD CE))
            - FMR1 (FRAXA) methylation analysis (2nd level test) (AmplideX FMR1 test (IVD CE))

  • Neuronal Ceroid Lipofuscinosis

           - comprehensive NGS CLN gene panel (14 genes)

  • Fahr Disease & other brain calcification disorders

           - comprehensive NGS calcification gene panel (32 genes)

  • Neuronal Ceroid Lipofuscinosis

           - comprehensive NGS CLN gene panel (14 genes)

  • Bilateral striatal necrosis

          - comprehensive NGS IBSN gene panel (8 genes)

  • Biopterin and Folate deficiencies

          - comprehensive NGS BH4 gene panel (14 genes)

  •  Glycogenoses

         - comprehensive NGS glycogenoses gene panel (24 genes)

  •  Myopathies (lipid myopathies, congenital myopathies, mito myopathies)

         - comprehensive NGS myo gene panel (50 genes)

  • Metilazione MGMT
  • mutazioni IDH1-2
  • perdita di eterozigosi 1p-19q
  • perdita di eterozigosi 9p, 10q, 17p
  • mutazioni PTEN, mutazioni p53
  • fusione genica FGF3-TACC3
  • mutazioni NF1, NF2, SPRED1, LZTR1

Apparecchiature

  • 2 NGS Sequencer Illumina MiSeq
  • Automatic Liquid Handler for DNA Extraction (Tecan)
  • Automatic Liquid Handler for NGS Library Preparation (Agilent Bravo)
  • GC/Mass Spectrometer Perkin Elmer Clarus 600C
  • LC/Tandem Mass Spectrometer PE Sciex API 2000
  • Ion PGM (pannelli NGS)
  • sequenziatore Sanger 4 capillari ThermoFischer
  • real time PCR Via7
  • digital PCR ThermoFischer

 

Strutture di riferimento

 

Team

Neurologi

  • Franco Taroni
  • Gaetano Finocchiaro 
  • Marica Eoli
  • Gabriele Bellavia

Biologi/Biotecnologi

  • Cinzia Gellera
  • Barbara Garavaglia
  • Barbara Castellotti
  • Eleonora Lamantea
  • Federica Invernizzi
  • Silvia Baratta
  • Viviana Pensato
  • Celeste Panteghini
  • Elisa Sarto
  • Andrea Legati
  • Chiara Reale
  • Silvia Marchet
  • Pierpaola Tannorella
  • Rosina Paterra
  • Maria Rosaria De Filippo
  • Luisa Maddaloni 

Genetisti

  • Daniela Di Bella
  • Stefania Magri

Tecnici 

  • Simona Allievi
  • Roberto Bellavia
  • Valentina Bruno
  • Alessia Castucci
  • Elena Rizzo
  • Anna Venerando
  • Nadia Zanetti
  • Donata Bianchessi
  • Cristina Ibba

Responsabile della pubblicazione: Direzione Scientifica

Ultimo aggiornamento: 01/07/2020