Neurogenetica
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
UOC Genetica Medica e Neurogenetica
Neurologi
- Franco Taroni
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
Genetisti
- Daniela Di Bella
- Stefania Magri
Tecnici
- Simona Allievi
- Roberto Bellavia
- Valentina Bruno
- Alessia Castucci
- Elena Rizzo
- Anna Venerando
- Nadia Zanetti
UOC Neurologia 8 - Neuro-oncologia Molecolare
- Gaetano Finocchiaro
- Marica Eoli
Biologa
- Rosina Paterra
Tecnici
- Donata Bianchessi
- Cristina Ibba
Responsabile della pubblicazione: Direzione Scientifica
Ultimo aggiornamento: 08/09/2020