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

CANADA
Ontario
TORONTO
Molecular Diagnosis of Autosomal Dominant Hereditary Spastic Paraplegia (15 genes)
The Hospital for Sick Children and University of Toronto
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Array based techniques

FRANCE
GRAND-EST
STRASBOURG
Diagnosis of intellectual disability (Panel)
CHU de Strasbourg - Hôpital Civil
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)

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of corpus callosum agenesis or dysgenesis syndrome (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

FRANCE
NOUVELLE AQUITAINE
POITIERS
Diagnosis of intellectual disability (Panel ID275)
CHU de Poitiers
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)

FRANCE
BRETAGNE
BREST
Diagnosis of intellectual disability (Panel)
CHRU de Brest - Hôpital Morvan
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)

ITALY
LOMBARDIA
MILANO
Molecular diagnosis of familial spastic paraplegia (SPAST, ATL1, SPG7, REEP1, BSCL2, CYP7B1 genes)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ITALY
CALABRIA
MANGONE
Molecular diagnosis of familial spastic paraplegia (SPAST, ATL1, SPG7 genes)
CNR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

SPAIN
Madrid
SAN SEBASTIÁN DE LOS REYES