Search for a diagnostic test
18 Result(s)
Caption
: Accreditation
= ;

FRANCE
NOUVELLE AQUITAINE
POITIERS
Diagnosis of dentatorubral pallidoluysian atrophy (ATN1 gene)
CHU de Poitiers
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

FRANCE
NOUVELLE AQUITAINE
POITIERS
Diagnosis of spinocerebellar ataxia type 17 (TBP gene)
CHU de Poitiers
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

FRANCE
OCCITANIE
MONTPELLIER
Diagnosis of ataxia, spastic paraplegia and related neurodegenerative diseases (Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

ESTONIA
Tartu
TARTU
Molecular diagnosis of spinocerebellar ataxia (panel)
Asper Biogene
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of ataxia and related disorders (panel)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of autosomal dominant cerebellar ataxia (panel)
Hospital Universitari de Bellvitge
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of spinocerebellar ataxia type 36 (NOP56 gene)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: PCR based techniques

BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of rare ataxia and hereditary spastic paraplegia (gene panel)
Erasme Hospital - ULB
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

BELGIUM
VLAAMS BRABANT
LEUVEN
Diagnosis of rare ataxia (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of familial paroxysmal ataxia (CACNA1A gene)
Hôpital Saint Louis AP-HP
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

ITALY
VENETO
COSTOZZA DI LONGARE
Molecular diagnosis of cerebellar ataxia, type 1, 2, 3, 5, 6, 7, 8, 10, 12, 13, 14, 17, 27,36 (ATXN1, ATXN2, ATXN3, SPTBN2, CACNA1A, ATXN7, ATXN8OS, ATXN10, PPP2R2B, PRKCG, TBP, FGF14, NOP56 genes)
B.I.R.D. Foundation
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Uniparental disomy study
Technique(s)
: Sanger sequencing, PCR based techniques, Microsatellite analysis

SPAIN
Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of spinocerebellar ataxia (gene panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing, PCR based techniques

SPAIN
Comunidad Valenciana
ELCHE
Diagnosis of spinocerebellar ataxia type 36 (NOP56 gene)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: PCR based techniques

SPAIN
País Vasco
SAN SEBASTIÁN
Diagnosis of spinocerebellar ataxia type 36 (NOP56 gene)
DNA Data
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

ITALY
MOLISE
POZZILLI
Diagnosis of rare hereditary ataxia [panel of genes]
Istituto Neurologico Mediterraneo - IRCCS Neuromed
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), PCR based techniques

SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of spinocerebellar ataxia type 36 (NOP56 gene)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

SPAIN
Comunidad Valenciana
PATERNA
Diagnosis of cerebellar ataxia (detection of expanded repeats in ATXN1, ATXN2, ATXN7, ATXN8, CACNA1A, NOP56, PPP2R2B, TBP genes)
Sistemas Genómicos S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

SPAIN
Cataluña
BADALONA