x

Search for a diagnostic test

* (*) mandatory field

12 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Diagnosis of Angelman syndrome (15q11 region, UBE3A gene)
CHU de Nantes - Institut de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Diagnosis of Kennedy disease (AR gene)
CHU de Nantes - Institut de Biologie
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
Technique(s) : PCR based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
CHU de Nantes - Institut de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Diagnosis of cystic fibrosis (CFTR gene)
CHU de Nantes - Institut de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Uniparental disomy study
Technique(s) : Sanger sequencing, PCR based techniques, Microsatellite analysis

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Diagnosis of Steinert myotonic dystrophy (DMPK gene)
CHU de Nantes - Institut de Biologie
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
Technique(s) : PCR based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Diagnosis for partial Y deletions (USP9Y gene)
CHU de Nantes - Institut de Biologie
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Diagnosis of Leri-Weill syndrome and Langer mesomelic dysplasia (SHOX gene)
CHU de Nantes - Institut de Biologie
Purpose(s) : Antenatal diagnosis, 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) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Diagnosis of congenital idiopathic nystagmus (FRMD7 gene)
CHU de Nantes - Institut de Biologie
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

FRANCE

PAYS DE LA LOIRE
NANTES

Diagnosis of cystic fibrosis (CFTR gene: search for parents mutations)
CHU de Nantes - Institut de Biologie
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Diagnosis of proximal spinal muscular atrophy (SMN1 gene: exon 7 deletion)
CHU de Nantes - Institut de Biologie
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Diagnostic de la dystrophie myotonique type 1 (gène DMPK : amplification de triplets)
CHU de Nantes - Institut de Biologie
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Diagnosis of Huntington disease (HTT gene: triplets amplification)
CHU de Nantes - Institut de Biologie
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques