x

Search for a diagnostic test

* (*) mandatory field

29 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

GERMANY

Bayern
REGENSBURG

Accreditation
Molecular diagnosis of TP63 gene-associated diseases (sequencing, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Accreditation
Molecular diagnosis of EEC syndrome, AEC syndrome, ADULT syndrome, split hand-split foot malformation and Rapp-Hodgkin syndrome (TP63 and TPRC genes)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Split Hand/Foot Malformation (TP63 and WNT10B gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
REGENSBURG

Accreditation
Molecular diagnosis of TP63 gene-associated diseases
Universitätsklinikum Regensburg
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 TP73L gene-associated diseases
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

SWITZERLAND

Suisse Alémanique
AARGAU

Accreditation
Molecular diagnosis of p63 gene-associated diseases (sequencing and deletion analysis)
Kantonsspital Aargau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

SWITZERLAND

Suisse Alémanique
AARGAU

Accreditation
Molecular diagnosis of Split-hand/foot malformation (WNT10B gene sequencing and deletion analysis)
Kantonsspital Aargau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of split hand-foot malformation (WNT10B gene)
Zentrum für Humangenetik Mannheim
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 TP63 gene-associated diseases
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

UNITED KINGDOM

South Glamorgan
CARDIFF

GERMANY

Bayern
WÜRZBURG

Accreditation
Molecular diagnosis of split hand-split foot malformation (10q24.3, 17p13.3)
Universität Würzburg - Biozentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Detection of microdeletions/microduplications
Technical procedure(s) : PCR based techniques, Array based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of TP63 gene-associated diseases
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Accreditation
Diagnosis of limb malformations (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

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of split hand-foot malformation (WNT10B gene)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
BAD STEBEN

Accreditation
Molecular diagnosis of split hand split foot malformation type 4 (TP63 gene)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of nonsyndromic split hand - split foot malformation (TP63 gene)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
MÜNSTER

Molecular diagnosis of TP63 gene-associated syndromes (EEC3, SHFM4, Hay-Wells syndrome, ADULT syndrome, Limb-Mammary syndrome and others)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

POLAND

Poznan
POZNAN

Molecular diagnosis of split hand - split foot malformation (TP63 gene)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of TP63 gene-associated diseases
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

País Vasco
DERIO

Molecular diagnosis of split hand - split foot (aCGH)
Genetadi Biotech S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of TP63 gene-associated diseases (sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of split hand-split foot malformation (SHFM1 gene / array-CGH)
Policlínica Gipuzkoa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

PORTUGAL

NORTE
PORTO

Molecular diagnosis of TP63 linked disease (TP63 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

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of split hand-split foot malformation (TP63, WNT10B genes / entire coding sequence)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

ITALY

LAZIO
ROMA

Molecular cytogenetic diagnosis of split hand-split foot malformation (SHFM1 gene / array-CGH)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Split hand-split foot malformation (WNT10B and DLX5 genes: 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

PUGLIA
SAN GIOVANNI ROTONDO

Molecular diagnosis of split hand-foot (TP63 gene)
IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of split hand - split foot (TP63, WNT10B, DLX5, SHFM1 genes)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Somatic genetics
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

HUNGARY

Dél-Alföld
SZEGED

Split-hand/foot malformation
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