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

NETHERLANDS
Limburg
MAASTRICHT
Molecular diagnosis of Hailey-Hailey Disease (ATP2C1 gene)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

GERMANY
Hamburg
HAMBURG
Diagnosis of Hailey-Hailey Disease (ATP2C1 gene: sequencing)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Baden-Württemberg
TÜBINGEN
Diagnosis of Hailey-Hailey Disease (ATP2C1 gene: sequencing)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Bayern
MÜNCHEN
Diagnosis of Hailey-Hailey Disease (ATP2C1 gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of skin diseases (Panel)
Hôpital Necker-Enfants Malades
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, Uniparental disomy study, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Microsatellite analysis

SPAIN
Cataluńa
L'HOSPITALET DE LLOBREGAT
Diagnosis of familial benign chronic pemphigus (ATP2C1 gene)
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)

GERMANY
Baden-Württemberg
TÜBINGEN
Diagnosis of skin diseases (NGS screening panel, 253 genes)
CeGaT GmbH
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)

BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of rare genetic skin diseases (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)

ITALY
TRENTINO ALTO ADIGE
ROVERETO
Diagnosis of genodermatosis characterized by keratinization disorders [panel of genes]
MAGI'S LAB srl
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

ITALY
LAZIO
ROMA
Molecular diagnosis of Hailey-Hailey disease (ATP2C1 gene)
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ITALY
LAZIO
ROMA
Postnatal molecular diagnosis of Hailey-Hailey disease (ATP2C1 gene)
IRCCS Istituto Dermatologico San Gallicano
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
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

GERMANY
Sachsen
DRESDEN
Diagnosis of Hailey-Hailey Disease (ATP2C1 gene: sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

SPAIN
Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of familial benign chronic pemphigus (ATP2C1 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
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
Technique(s)
: Sanger sequencing

HUNGARY
Közép-Magyarország
BUDAPEST
Molecular diagnosis of benign chronic familial pemphigus (ATP2C1 gene)
Department of Dermatology, Venereology and Dermatoncology, Semmelweis University
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

AUSTRIA
WIEN
WIEN
Molecular diagnosis of familial benign chronic pemphigus (ATP2C1 gene)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

HUNGARY
Dél-Alföld
SZEGED