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62 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Molecular diagnosis of mesomelic dwarfism langer (SHOX gene)
    • Mitteldeutscher Praxisverbund Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Accreditation
    • Molecular diagnosis of Langer mesomelic dysplasia (SHOX gene: full mutation screen and MLPA)
    • Salisbury District Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • UNITED KINGDOM
    • Wiltshire
    • SALISBURY
    • Accreditation
    • Molecular diagnosis of SHOX gene-associated diseases
    • Centrum für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Hessen
    • BAD NAUHEIM
    • Accreditation
    • Molecular cytogenetics search for microdeletions of SHOX gene
    • Biomnis
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of microdeletions/microduplications
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Molecular diagnosis of Langer Mesomelic Dysplasia and Leri Weill Dyschondrosteosis (SHOX gene)
    • LUMC - Leids Universitair Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • LEIDEN
    • Accreditation
    • Molecular diagnosis of mesomelic dwarfism langer type
    • Paxis und Labor Dr. med Karl Mehnert
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • NEU-ULM
    • Accreditation
    • Molecular diagnosis of SHOX gene-associated diseases
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of SHOX gene-associated diseases
    • Paxis und Labor Dr. med Karl Mehnert
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • NEU-ULM
    • Accreditation
    • Molecular diagnosis of SHOX gene-associated diseases
    • Medizinisches Versorgungszentrum Humane Genetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Léri-Weill dyschondrosteosis, mesomelic dwarfism, Langer type and idiopathic short stature (SHOX gene: mutations, deletions, duplications)
    • Laboratoire Cerba
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • SAINT-OUEN-L'AUMÔNE
    • Accreditation
    • Molecular and molecular cytogenetic diagnosis of SHOX gene-associated diseases
    • Labor Lademannbogen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Cytogenetics
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of Langer mesomelic dysplasia (SHOX gene)
    • Université Catholique de Louvain - UCL
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUXELLES
    • Accreditation
    • Molecular diagnosis of Leri-Weill syndrome and Langer mesomelic dysplasia (SHOX gene: point mutations and large genomic rearrangements)
    • CHU de Nantes - Institut de Biologie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • NANTES
    • Accreditation
    • Molecular diagnosis of Langer Mesomelic Dysplasia (SHOX gene)
    • VUmc - VU medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of SHOX gene-associated diseases
    • Universitätsmedizin Mainz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • MAINZ
    • Accreditation
    • Molecular diagnosis of SHOX gene-associated diseases (MLPA, sequencing)
    • Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • DORTMUND
    • Accreditation
    • Molecular diagnosis of SHOX gene-associated diseases
    • GenteQ GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of Langer Mesomelic Dysplasia (SHOX gene)
    • UMCG - Universitair Medisch Centrum Groningen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Groningen
    • GRONINGEN
    • Accreditation
    • Molecular cytogenetic diagnosis of Langer mesomelic dysplasia
    • Biomnis
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • FRANCE
    • RHONE-ALPES
    • LYON
    • Accreditation
    • Molecular diagnosis of Leri-Weill syndrome and SHOX related disorders (entire coding region SHOX gene / MLPA; gene panel SHOX, FGFR3, SRCAP, ANKRD11, PTPN11, RIT1, A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SHOC2, SPRED1, NF1; exome sequencing)
    • Universität Zürich
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Accreditation
    • Molecular diagnosis of SHOX deficiency (SHOX gene)
    • Medizinische Universität Graz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • STEIERMARK
    • GRAZ
    • Accreditation
    • Molecular cytogenetic diagnosis of Leri-Weill Dyschondrosteosis or Langer Mesomelic Dysplasia (SHOX gene: by FISH)
    • Sheffield Children's NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Technical procedure(s) : FISH
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of SHOX gene-associated diseases
    • Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • MARTINSRIED
    • Accreditation
    • Molecular diagnosis of SHOX gene-associated diseases
    • Universitätsklinikum Schleswig-Holstein - Campus Lübeck
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Schleswig-Holstein
    • LÜBECK
    • Accreditation
    • Molecular diagnosis of Léri-Weill dyschondrosteosis, Langer type mesomelic dwarfism and idiopathic short stature (SHOX gene)
    • University Hospital of Antwerp - UZA- Centrum Medische Genetica - CMG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • BELGIUM
    • ANTWERPEN
    • ANTWERPEN-EDEGEM
    • Accreditation
    • Molecular diagnosis of SHOX gene-associated diseases
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of SHOX gene-associated diseases (sequencing, MLPA)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular Diagnosis of Connective Tissue Disorder with Bone Involvement NGS Panel and Del/Dup Analysis (43 genes)
    • The Hospital for Sick Children and University of Toronto
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : NGS sequencing (except WES), Array based techniques
    • More information
    • CANADA
    • Ontario
    • TORONTO
    • Accreditation
    • Molecular cytogenetic analysis of SHOX gene (Xp22, Yp11)
    • Praxis Dr. Lana Harder
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • GERMANY
    • Schleswig-Holstein
    • KIEL
    • Accreditation
    • Molecular diagnosis of SHOX gene-associated diseases
    • Laborarztpraxis Dres. med. Walther, Weindel und Kollegen MVZ GbR
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Hessen
    • FRANKFURT
    • Accreditation
    • Molecular cytogenetics search for microdeletions of SHOX gene
    • CHU Paris Centre - Maternité Port Royal
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of microdeletions/microduplications
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular cytogenetic diagnosis of Leri-Weill syndrome and Langer type of mesomelic dwarfism : search for microdeletions of SHOX gene by FISH
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of microdeletions/microduplications
    • Technical procedure(s) : FISH
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of mesomelic dwarfism langer type
    • Gemeinschaftspraxis Dr. Susanne Ebner und Dr. Susanne Markus
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • REGENSBURG
    • Molecular diagnosis of mesomelic dysplasia, Langer type (SHOX gene)
    • Ospedali Galliera
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Molecular diagnosis of the Langer mesomelic dysplasia. SHOX (region PAR1) gene
    • INGEMM - Instituto de Genética Médica y Molecular
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of SHOX gene-associated diseases (sequencing / MLPA)
    • bio.logis Zentrum für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • GERMANY
    • Hessen
    • FRANKFURT AM MAIN
    • Molecular cytogenetic diagnosis of SHOX gene deletion-related short stature syndromes
    • CHU de Rouen - Hôpital Charles Nicolle
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • FRANCE
    • HAUTE-NORMANDIE
    • ROUEN
    • Molecular diagnosis of Langer mesomelic dysplasia (SHOX gene: deletions and point mutations)
    • CHU de Saint-Etienne - Hôpital Nord
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
    • More information
    • FRANCE
    • RHONE-ALPES
    • SAINT-PRIEST-EN-JAREZ
    • Molecular cytogenetics diagnosis of gene SHOX-related syndromes
    • Ospedali Riuniti "Umberto I - G.M. Lancisi - G. Salesi" - Presidio "G. Salesi"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • MARCHE
    • ANCONA
    • Molecular diagnosis of SHOX gene-associated diseases
    • Molekulargenetisches Labor der Gemeinschaftspraxis
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Molecular cytogenetic diagnosis of SHOX-related diseases (FISH analysis)
    • CHRU de Brest - Hôpital Morvan
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Technical procedure(s) : FISH
    • More information
    • FRANCE
    • BRETAGNE
    • BREST
    • Cytogenetic analysis of SHOX gene (Xpter-p22.32/Xpter-11.2): FISH
    • Faculdade de Medicina da Universidade do Porto
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Technical procedure(s) : FISH
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Langer mesomelic dysplasia (sequencing and MLPA of SHOX gene)
    • DNA Data
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • SPAIN
    • País Vasco
    • SAN SEBASTIÁN
    • Molecular cytogenetic analysis (haploinsufficiency) of SHOX gene
    • Institut für Humangenetik am Universitätsklinikum Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Molecular diagnosis of SHOX gene-associated diseases
    • MVZ Humangenetik Ulm
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • ULM
    • Molecular diagnosis of Langer mesomelic dysplasia (aCGH)
    • Genetadi Biotech S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • País Vasco
    • DERIO
    • Molecular diagnosis of SHOX gene-associated diseases
    • Gemeinschaftspraxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular cytogenetic analysis of SHOX gene (Xpter-p222/Xpter-11.3) by FISH
    • Faculdade de Medicina da Universidade de Coimbra
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Technical procedure(s) : FISH
    • More information
    • PORTUGAL
    • CENTRO
    • COIMBRA
    • Molecular diagnosis of Langer mesomelic dysplasia (SHOX gene)
    • Hospital Universitario Son Espases
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Baleares
    • PALMA DE MALLORCA
    • Molecular diagnosis of Langer mesomelic dysplasia: diagnostic, prenatal and carrier testing (SHOX gene)
    • Hospital Clínico San Carlos
    • Purpose(s) : Antenatal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of SHOX gene-associated diseases
    • Biomedizinisches Zentrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Saarland
    • HOMBURG
    • Prenatal and postnatal molecular diagnosis of Langer mesomelic dysplasia (SHOX gene: sequencing of entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Langer mesomelic dysplasia (SHOX gene / entire coding sequence, MLPA)
    • Centro Inmunológico de Alicante (CIALAB)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : MLPA based techniques
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular Cytogenetic Diagnosis of SHOX-Related Disorder (mFISH SHOX probe analysis)
    • Alberta Children's Hospital
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of microdeletions/microduplications
    • Technical procedure(s) : FISH
    • More information
    • CANADA
    • Alberta
    • CALGARY
    • Cytogenetics molecular diagnosis of dyschondrosteosis and mesomelic dwarfism Langer type : search for microdeletions of SHOX gene
    • Hotel-Dieu
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of microdeletions/microduplications
    • More information
    • FRANCE
    • RHONE-ALPES
    • CHAMBERY
    • Molecular diagnosis of SHOX gene-associated diseases
    • Praxis Dr. med. Ulrike Beudt
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Hessen
    • FRANKFURT AM MAIN
    • Molecular diagnosis of Langer mesomelic dysplasia (SHOX gene)
    • University hospital Brno
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • CZECH REPUBLIC
    • South Moravia
    • BRNO
    • Diagnosis by FISH of SHOX-related short stature
    • GH du Havre - Hôpital Jacques Monod
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Technical procedure(s) : FISH
    • More information
    • FRANCE
    • HAUTE-NORMANDIE
    • LE HAVRE
    • Cytogenetic diagnosis of Leri-Weill syndrome and Langer mesomelic dysplasia (search by FISH for SHOX gene microdeletions)
    • CHU Paris Seine-Saint-Denis - Hôpital Jean Verdier
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of microdeletions/microduplications
    • Technical procedure(s) : FISH
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • BONDY
    • Molecular diagnosis of SHOX related disorders
    • Università degli Studi di Perugia - Ospedale S. Maria della Misericordia
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • UMBRIA
    • PERUGIA
    • Molecular cytogenetics diagnosis of diseases related to SHOX gene deletions
    • Università degli Studi di Sassari
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • SARDEGNA
    • SASSARI
    • Molecular diagnosis of Langer mesomelic dysplasia (MLPA and sequencing analysis of SHOX gene)
    • University Hospital Bratislava - Stare mesto
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • SLOVAKIA
    • Bratislavsky kraj
    • BRATISLAVA