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GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of autosomal recessive congenital ichthyosis (ABCA12, ALOX12B, ALOXE3, CYP4F22, LIPN, NIPAL4, PNPLA1, TGM1 genes)
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

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Nonbullous Ichthyosiform Erythroderma (ALOX12B and ALOXE3 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Autosomal Recessive Congenital Ichthyosis type 2, 3, 6 and 10 (ALOX12B, ALOXE3, NIPAL4 and PNPLA1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

MIDI-PYRENEES
TOULOUSE

Accreditation
Molecular diagnosis of congenital non-bullous ichthyosiform erythroderma (genes ALOX12B, ALOXE3, TGM1 and NIPAL4)
CHU de Toulouse - Hôpital Purpan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Molecular diagnosis of congenital nonbullous ichthyosiform erythroderma (TGM1 gene)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of autosomal recessive congenital ichthyosis (ABCA12, ALOX12B, ALOXE3, CYP4F22, NIPAL4, TGM1 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Tayside
DUNDEE

Accreditation
Molecular diagnosis of Autosomal Recessive Congenital Ichthyosis Types 1, 2, 3, 5 and 6 by sequencing of the entire coding region of the gene(s) and targetted mutation analysis (Genes: ALOXE3, ALOX12B, CYP4F22, NIPAL4, TGM1)
Ninewells Hospital and Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of congenital ichtyosis (TGM1 gene)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive congenital ichthyosis (ABCA12, ALOX12B, ALOXE3, CYP4F22, NIPAL4, TGM1 genes / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Molecular diagnosis of autosomal recessive congenital ichthyosis (TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22 genes)
CHUS - Complejo Hospitalario Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
FREIBURG

Molecular diagnosis of autosomal recessive congenital ichthyosis (ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1 genes)
Institut für Humangenetik am Universitätsklinikum Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of congenital nonbullous ichthyosiform erythroderma (ALOXE3, ALOX12B genes)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of autosomal recessive congenital ichthyosis (TGM1 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

ITALY

LAZIO
ROMA

Molecular diagnosis of autosomal recessive congenital ichthyosis (ABCA12, ALOX12B, ALOXE3, CYP4F22, NIPAL4, PNPLA1, TGM1, LIPN genes)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of congenital non-bullous ichthyosiform erythroderma (PNPLA1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of congenital ichtyosiform erythroderma (histology, immunohistochemistry, electronic 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

GERMANY

Baden-Württemberg
HEIDELBERG

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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of congenital non bullous ichthyosiform erythroderma (TGM1, ALOX12B, NIPAL4, ALOXE3, ABCA12, CERS3, CYP4F22, LIPN, PNPLA1 genes)
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
Technical procedure(s) : Sanger sequencing

FRANCE

MIDI-PYRENEES
TOULOUSE

Immunochemical and histo-enzymatic diagnosis of autosomal recessive congenital ichthyosis like lamellar ichthyosis and congenital nonbullous ichthyosiform erythroderma
CHU de Toulouse - Hôpital Larrey
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technical procedure(s) : Immunohistochemistry

SPAIN

Comunidad Valenciana
PATERNA

Preimplantation genetic diagnosis of congenital ichthyoses (ABCA12 gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
ERLANGEN

Molecular diagnosis of lamellar ichthyosis 1 (TGM1 gene)
Kinder- und Jugendklinik des Universitätsklinikums Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

HUNGARY

Dél-Alföld
SZEGED

Ichthyosis
University of Szeged Deparment of Medical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing