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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnostic de la maladie de Charcot-Marie-Tooth type 1A (duplication et mutations ponctuelles du gène PMP22)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of Huntington disease (HTT gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of Steinert disease (DMPK gene; Southern Blot)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of Friedreich ataxia (FXN1 gene; Southern Blot)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of neuropathy hereditary with liability to pressure palsies (PMP22 gene deletion or mutations)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of Kennedy disease (AR gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of proximal myotonic myopathy (CNBP gene; Southern Blot
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of susceptiblity to neuralgic amyotrophy (SEPT9 gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of autosomal recessive neuromyotonia and axonal neuropathy (HINT1 gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of Charcot-Marie-Tooth disease (Panel)
CHU de Lyon HCL - GH Est
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

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of hereditary spastic paraplegia (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of frontotemporal dementia (C9ORF72 gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of hereditary Creutzfeldt-Jakob disease (prion protein gene study (PRNP); detection of 14-3-3 protein in CSF)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of cerebellar ataxia syndrome with bilateral vestibular neuropathy and areflexia (RFC1 gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques