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GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of poikiloderma of Kindler
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Groningen
GRONINGEN

Accreditation
Diagnosis of Epidermolysis Bullosa (Immunofluorescence and electron microscopy analysis of skin biopsies)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technical procedure(s) : Immunohistochemistry

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of poikiloderma of Kindler (FERMT1 gene)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of poikiloderma of Kindler (FERMT1 gene)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of Kindler syndrome (FERMT1 gene / sequence analysis entire coding region)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Madrid
MADRID

Molecular diagnosis of Kindler syndrome (FERMT1 gene)
Fundación Jiménez Díaz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

BOURGOGNE
DIJON

Molecular diagnosis of Kindler syndrome (FERMT1 gene sequencing ; search for genomic rearrangement)
CHU de Dijon - Plateau technique de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Kindler syndrome (FERMT1 gene: sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of inflammatory bowel disease (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Baden-Württemberg
FREIBURG

Molecular diagnosis of poikiloderma of Kindler (FERMT1 gene)
Universitäts-Klinik für Dermatologie und Venerologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ITALY

LAZIO
ROMA

Molecular diagnosis of hereditary acrokeratotic poikiloderma (KIND1/FERMT1 gene)
Istituto Dermopatico dell'Immacolata - IRCCS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Epidermolysis Bullosa (mutation screening of the COL7A1, ITGA6, ITGB4, LAMA3, LAMB3 & LAMC2 genes)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of poikiloderma (histology, immunohistochemistry, electron microscopy)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Pathology
Objective(s) : Protein expression
Technical procedure(s) : Immunohistochemistry

ISRAEL

ISRAEL
HAIFA

Molecular diagnosis of Epidermolysis Bullosa Lethalis (LAMC2, LAMB3, Linkage analysis)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HAIFA

Molecular diagnosis of Epidermolysis Bullosa Dystrophic (COL7A1, Linkage analysis)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of poikiloderma of Kindler (FERMT1 gene)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
HEIDELBERG

Electron microscopic diagnosis of Poikiloderma of Kindler
Universitäts-Hautklinik Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

GERMANY

Baden-Württemberg
HEIDELBERG

Electron microscopic diagnosis of hereditary epidermolysis bullosa
Universitäts-Hautklinik Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

GERMANY

Baden-Württemberg
FREIBURG

Electron microscopy and immunofluorescence mapping of epidermolysis bullosa
Universitäts-Klinik für Dermatologie und Venerologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technical procedure(s) : Immunohistochemistry

SPAIN

Madrid
MADRID

Molecular diagnosis of Kindler syndrome (FERMT1 gene)
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics