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GERMANY

Niedersachsen
GÖTTINGEN

Accreditation
Molecular diagnosis of Noonan syndrome (KRAS, PTPN11, RAF1 and SOS1 genes)
Institut für Humangenetik der Universität Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular diagnosis of Noonan syndrome (BRAF and PTPN11 genes)
Paxis und Labor Dr. med Karl Mehnert
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FINLAND

Finland
OULU

Accreditation
Molecular diagnosis of Noonan syndrome (SHOC2, KRAS, PTPN11, RAF1 and SOS1 genes)
Oulu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of Noonan syndrome (BRAF, KRAS, NRAS, PTPN11, RAF1 and SOS1 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Search of genomic DNA duplications and/or deletions by array-CGH
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of Noonan syndrome (BRAF, KRAS, NRAS, PTPN11, RAF1, SOS1 genes)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of Noonan syndrome (A2ML1, BRAF, KRAS, LZTR1, NRAS, PTPN11, RAF1, RASA2, RIT1, SOS1, SOS2 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Search of genomic DNA duplications and/or deletions by CGH arrays / chromosomal microarrays
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of Noonan syndrome (BRAF, KRAS, LZTR1, NRAS, PTPN11, RAF1, RIT1, SOS1 genes)
Zentrum für Humangenetik Mannheim
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

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of Noonan syndrome (KRAS, PTPN11, RAF1 and SOS1 genes: sequencing)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of Noonan syndrome (KRAS, PTPN11, RAF1 and SOS1 genes)
Praxisgemeinschaft für Laboratoriumsmedizin und Humangenetik
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 Noonan Syndrome (A2ML1, CBL, KRAS, LZTR1, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1 and SOS2 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : 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
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of Noonan syndrome (BRAF, CBL, KRAS, NRAS, PTPN11, RAF1, SOS1 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

FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation
Molecular diagnosis of Noonan syndrome (complete sequencing of PTPN11 gene)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Sachsen
LEIPZIG

Accreditation
Molecular diagnosis of Noonan syndrome (PTPN11, SOS1 genes)
MVZ Labor Dr. Reising-Ackermann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Molecular diagnosis of mendelian cardiomyopathies by exome sequencing (bioinformatic analysis of 65 genes)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Whole Exome Sequencing (WES)

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Noonan syndrome (PTPN11 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Noonan syndrome (PTPN11, SOS1 genes)
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Noonan syndrome (KRAS, PTPN11, RAF1 and SOS1 genes: sequencing)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of Noonan syndrome (BRAF, KRAS, NRAS, PTPN11, RAF1, SOS1 genes: sequencing)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of Noonan syndrome (BRAF, KRAS, PTPN11, RAF1, SOS1 genes: sequencing)
amedes genetics im MVZ für Labormedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Noonan and related syndromes (BRAF, CBL, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, SOS1 genes: NGS Screening Panel)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Molecular diagnosis of Noonan and related syndromes (BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1 genes)
Universitätsmedizin Mainz
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 in case of Multiple Congenital Anomalies (SNP-array)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of Noonan syndrome and Noonan-related syndrome (BRAF, CBL, HRAS, KRAS, NRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SHOC2 and SOS1 genes: sequencing of the entire coding region)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Molecular diagnosis of Noonan syndrome (PTPN11, SOS1 genes)
Labor PD Dr. Volkmann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ESTONIA

Tartu
TARTU

Accreditation
Mocular diagnosis of disorders linked to BRAF mutations by RT-PCR
Asper Biotech Ltd.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

ESTONIA

Tartu
TARTU

Accreditation
Prenatal molecular diagnosis of Noonan syndrome (PTPN11, SOS1, RAF1, KRAS genes : APEX analysis)
Asper Biotech Ltd.
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of Noonan syndrome (BRAF, KRAS, LZTR1, NRAS, PTPN11, RAF1, SOS1 genes)
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

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Congenital Heart Defects (gene panel; CAR05v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Familial Hypertrophic Cardiomyopathy by sequencing of the entire coding region of gene (s) (MYBPC3, MYH7, TNNI3, TNNT2 genes)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Leopard and Noonan Syndrome (PTPN11 gene)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Inherited Cardiomyopathies (Gene Panel; 28 genes: Sequencing of the entire coding region of gene (s) / targeted mutation analysis / Testing for known mutations in family members)
The Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of Noonan and related syndromes (BRAF, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1 and SOS1 genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Noonan syndrome and related syndromes (Rasopathies) (entire coding region PTPN11 and RIT1 genes; 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)

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of rasopathies (BRAF, CBL, HRAS, MAP2K1, MAP2K2, NRAS, PTPN11, KRAS, RAF1, RIT1, SHOC2, SOS1, SPRED1 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

GERMANY

Nordrhein-Westfalen
MÜNSTER

Accreditation
Molecular diagnosis of Noonan syndrome type 1 /LEOPARD syndrome type 1 (PTPN11 gene)
Universitätsklinikum Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Noonan Spectrum Disorder NGS Panel (13 genes) and Del/Dup Analysis (SPRED1 only)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques

CANADA

Ontario
TORONTO

Accreditation
Prenatal Molecular Diagnosis of Noonan Spectrum Disorders (NGS Panel 9 genes)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of polyformative syndromes (Panel)
CHU de Marseille - Hôpital de la Timone
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)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of Noonan syndrome and Noonan-related syndrome (gene panel)
Reference Laboratory Genetics
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

GERMANY

Bayern
BAD STEBEN

Accreditation
Molecular diagnosis of Noonan syndrome (PTPN11 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

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Noonan syndrome (PTPN11, SOS1, RAF1 & KRAS genes)
St George's University of London
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Molecular diagnosis of Noonan syndrome (PTPN11 gene: sequence analysis of exons 2-4, 7-8, 12-13)
Sahlgrenska Universitessjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FINLAND

Finland
HELSINKI

Accreditation
Molecular diagnosis of Noonan and related syndromes (BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1 genes) Next-generation sequencing
Blueprint Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

FINLAND

Finland
HELSINKI

Accreditation
Molecular diagnosis of Cardiomyopathy (multigene panel; 103 genes) Next-generation sequencing
Blueprint Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation
Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis / Testing for known mutations in family members)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis

GERMANY

Berlin
BERLIN

Accreditation
Molecular diagnosis of rasopathies (BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1 genes)
IFLb Laboratoriumsmedizin Berlin GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
ERLANGEN

Molecular diagnosis of Noonan syndrome (KRAS, NRAS, PTPN11, RAF1, SOS1 genes)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Molecular diagnosis of Noonan syndrome and related syndromes (PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF, MAP2K1 genes)
CHUS - Complejo Hospitalario Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
PISA

Postnatal molecular diagnosis of Noonan syndrome (BRAF, KRAS, PTPN11, RAF1, SOS1 genes)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Molecular diagnosis of Noonan syndrome: complete sequencing of NS1 gene
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Noonan syndrome (PTPN11, SOS1, RAF1, KRAS genes)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Noonan syndrome (PTPN11, KRAS, SOS1, RAF1, NRAS, and BRAF gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Aragón
ZARAGOZA

Molecular diagnosis of Noonan syndrome and Noonan-related syndrome (PTPN11, SOS1, RAF1, KRAS, MAP2K1, SHOC2 genes)
Universidad de Zaragoza. Facultad de Medicina
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MADRID

Diagnosis of Noonan syndrome (PTPN11, SOS1, RAF1, BRAF, KRAS, NRAS, RIT1 genes)
Hospital Materno Infantil Gregorio Marañón
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : Sanger sequencing

DENMARK

Jylland
AARHUS

Molecular diagnosis of Noonan syndrome
Aarhus Universitetshospital - Skejby
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
NÜRNBERG

Molecular diagnosis of Noonan syndrome (KRAS, PTPN11, RAF1 and SOS1 genes)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
BONN

Molecular diagnosis of Noonan syndrome (BRAF, KRAS, PTPN11, RAF1, SOS1 genes)
Institut für Klinische Genetik Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular diagnosis of Noonan syndrome (KRAS, PTPN11, RAF1, SOS1 genes: sequencing / MLPA)
bio.logis Zentrum für Humangenetik
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

GERMANY

Hamburg
HAMBURG

Molecular diagnosis of Noonan syndrome (KRAS and PTPN11 genes)
Pränatalzentrum Hamburg und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of Noonan syndrome (PTPN11, RAF1 genes)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSAW

Molecular diagnostics of Noonan syndrome (PTPN11, SOS1, RAF1, RIT1, KRAS, NRAS, BRAF genes)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : 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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Noonan Syndrome (KRAS, PTPN11, RAF1, SOS1 genes: Target mutation analysis - panel of mutations (T58I, F156I, V14I, V152Q; T42A, I309V, L560F, E110A, E139D, Q256R, F285L, N308D, Q409A, P491H, N58D, Q79R; S612T, L613V, R256S, D486N; P478R, E108K, D309Y, E846K, F623I, Y33TC, M269T, W432R, S548R, W279L) and sequencing of the entire coding region for PTPN11, SOS1, KRAS, RAF1)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

POLAND

Warszawa
WARSAW

Molecular diagnosis of Noonan syndrome (Analysis of mutations in coding region of the PTPN11, SOS1, RAF1 and KRAS genes)
NZOZ GENOMED
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Poznan
POZNAN

Molecular diagnosis of Noonan syndrome (PTPN11 gene: analysis of exons 3,8,9 and 13)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Noonan syndrome (KRAS, PTPN11, RAF1, NRAS and SOS1 genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSZAWA

Molecular diagnosis of Noonan syndrome (gene sequencing of : exons 1-15 of PTPN11; exons 2-24 of SOS1; exons 1-17 of RAF1; exons 1-6 of KRAS)
Instytut Matki i Dziecka
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bremen
BREMEN

Molecular diagnosis of Noonan syndrome (KRAS, PTPN11, RAF1 and SOS1 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of Noonan syndrome (entire coding sequence of PTPN11 and KRAS genes)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Baden-Württemberg
ULM

Molecular diagnosis of Noonan syndrome (BRAF, KRAS, PTPN11, RAF1, SOS1 genes)
MVZ Humangenetik Ulm
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 Noonan syndrome (PTPN11, SOS1, BRAF, RAF1, MAP2K1, MAP2K2, NRAS, KRAS, SHOC2 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)

GERMANY

Bayern
REGENSBURG

Molecular diagnosis of Noonan syndrome (PTPN11 gene)
Gemeinschaftspraxis Dr. Susanne Ebner und Dr. Susanne Markus
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Galicia
A CORUÑA

Molecular diagnosis of Noonan syndrome and Noonan-related syndrome (KRAS, PTPN11, SOS1 genes)
Health In Code
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of Noonan and related syndromes (BRAF, CBL, KRAS, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1 genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Molecular diagnosis of Noonan syndrome (PTPN11 gene)
Center for Cardiovascular Genetics and Gene Diagnostics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

BRETAGNE
BREST

Molecular diagnosis of dysmorphological syndromes by CGH array
CHRU de Brest - Hôpital Morvan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

SPAIN

Baleares
PALMA DE MALLORCA

Molecular diagnosis of Noonan syndrome (PTPN11 gene)
Hospital Universitario Son Espases
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Noonan syndrome (PTPN11, KRAS, SOS1, and RAF1 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of Noonan syndrome (PTPN11 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

POLAND

Warszawa
WARSAW

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of Noonan and related syndromes (BRAF, KRAS, MAP2K1, NRAS, PTPN11, RAF1, RIT1, SOS1 genes)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, 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

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of Noonan syndrome (KRAS, PTPN11, RAF1, SOS1 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

SPAIN

Castilla - León
SALAMANCA

Molecular diagnosis of Noonan syndrome (KRAS gene / sequencing)
Universidad de Salamanca. Facultad de Medicina
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Noonan syndrome (BRAF, PTPN11, RAF1, SOS1 genes)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of Noonan syndromes (BRAF, KRAS, NRAS, PTPN11, RAF1, SOS1 genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of hypertrophic cardiomyopathy (determined by Sanger sequencing and NGS)
Azienda Ospedaliera di Padova
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

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of Noonan syndrome (sequence analysis of the entire coding region of PTPN11, KRAS, SOS1, RAF1, NRAS, BRAF, RIT1, LZTR1 genes)
Azienda Ospedaliera di Padova
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

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Noonan syndrome and Noonan-related syndrome (genes panel)
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

ALSACE
STRASBOURG

Diagnosis of intellectual disability (Panel)
CHU de Strasbourg - Hôpital Civil
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)

FRANCE

RHONE-ALPES
BRON

Diagnosis of intellectual disability (Panel)
CHU de Lyon HCL - GH Est
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)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of RASopathies (Panel)
CHU Paris - Hôpital Robert Debré
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)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of predisposition to hemopathies (Panel)
CHU Paris - Hôpital Robert Debré
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

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of Noonan syndrome (PTPN11, RIT1 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of hypertrophic cardiomyopathy (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of cardiomyopathies (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of congenital heart diseases (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Cataluña
BADALONA

Diagnosis of Noonan syndrome and Noonan-related disorders (gene panel)
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

ITALY

LAZIO
ROMA

Molecular diagnosis of Noonan syndrome (BRAF, CBL, KRAS, NF1, NRAS, PTPN11, RAF1, SOS1 genes)
Policlinico Universitario "A. Gemelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

DENMARK

Sjælland
COPENHAGEN

Molecular diagnosis of Noonan syndrome
Statens Serum Institut
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of Noonan syndrome (PTPN11, SOS1, RAF1, BRAF, MEK1/2, KRAS, SHOC2, NRAS, CBL genes)
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular diagnosis of Noonan syndrome (PTPN11 gene)
IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

UMBRIA
PERUGIA

Cytogenetic and molecular cytogenetic diagnosis of Noonan syndrome (PTPN11 gene)
Università degli Studi di Perugia - Ospedale S. Maria della Misericordia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Noonan (PTPN11, Linkage analysis, PGD)
Shaare Zedek Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of neurofibromatosis type 1 (NF1 gene sequencing and MLPA analysis)
National Cancer Institute
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Noonan syndrome (PTPN11, RAF1, SOS1, NRAS, BRAF, MAP2K1, KRAS, RASA2, RIT1, A2ML1 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

SPAIN

Comunidad Valenciana
VALENCIA

Molecular diagnosis of Noonan syndrome (PTPN11 and SOS1 genes)
INCLIVA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MAJADAHONDA

Molecular diagnosis of Noonan syndrome (PTPN11 gene)
Genyca Innova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

STEIERMARK
GRAZ

Molecular diagnosis of Noonan syndrome (PTPN11 gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

HUNGARY

Dél-Alföld
SZEGED

Noonan syndrome
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

MOROCCO

Rabat
RABAT

Molecular diagnosis of male infertility due to Y chromosome deletions (AZF)
Institut National d'Hygiène
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

FRANCE

RHONE-ALPES
BRON

Diagnosis of congenital heart malformations (Panel)
CHU de Lyon HCL - GH Est
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)