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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of aniridia (PAX6 gene)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Aniridia (PAX6 and SOX2 gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Primary Glaucoma (MYOC, OPTN and CYP1B1 gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of sporadic aniridia (PAX6 gene)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome (PAX6 gene: full intragenic mutation screen)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of PAX6 gene-associated diseases (sequencing / MLPA)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of PAX6 gene-associated diseases
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Sachsen
WEIßWASSER

Accreditation
Molecular diagnosis of aniridia (PAX6 gene)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of PAX6 gene-associated diseases (PAX6 gene)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of aniridia (PAX6 gene)
Asper Biogene
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of corpus callosum agenesis or dysgenesis syndrome (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of iridogoniodysgenesis related disorders (FOXC1, PITX2, PAX6 genes)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of rare cataract (gene panel)
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)

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular and molecular cytogenetic diagnosis of Aniridia and WAGR syndrome (PAX6 and WT1 analysis by FISH followed by sequencing)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH

SPAIN

Comunidad Valenciana
PATERNA

Accreditation
Diagnosis of aniridia (PAX6 gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

ITALY

FRIULI VENEZIA GIULIA
UDINE

Molecular diagnosis of sporadic aniridia (PAX6 gene)
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
SIENA

Molecular diagnosis of hereditary glaucoma (MYOC, OPTN genes)
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

DENMARK

Sjælland
GLOSTRUP

Prenatal and postnatal genetic diagnosis of aniridia (PAX6 gene: MLPA, Sequencing ; known mutations for prenatal)
Kennedy Center
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

NORWAY

Vestlandet
BERGEN

Molecular cytogenetics diagnosis of aniridia (PAX6 gene)
Haukeland University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of PAX6 gene-associated diseases (sequencing / MLPA)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
ERLANGEN

Molecular diagnosis of PAX6 gene-associated diseases
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular diagnosis of aniridia (PAX6 gene: 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
Technique(s) : Sanger sequencing, MLPA based techniques

POLAND

Poznan
POZNAN

Molecular diagnosis of PAX6-related aniridia (PAX6 gene)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Poznan
POZNAN

Molecular diagnosis of hereditary glaucoma (MYOC, OPTN, CYP1B1 genes)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
DERIO

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

GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of PAX6 gene-associated diseases
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

DENMARK

Sjælland
GLOSTRUP

Molecular diagnosis of hereditary glaucoma (MYOC, OPTN, WDR36 genes: mutation screening ; CYP1B1: prenatal screening)
Kennedy Center
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Aniridia (PAX6 gene: Sequencing of entire coding region and deletion analysis by MLPA)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of Gillespie syndrome (ITPR1 gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

TRENTINO ALTO ADIGE
ROVERETO

Postnatal molecular diagnosis of glaucoma (ASB10, CYP1B1, MYOC, NTF4, OPA1, OPTN, WDR36 genes)
MAGI'S LAB srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

BRETAGNE
BREST

Diagnosis of intellectual disability (Panel)
CHRU de Brest - Hôpital Morvan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Gillespie syndrome (PAX6 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of hereditary glaucoma (CYP1B1 and MYOC/TIGR genes)
Ospedale Niguarda Ca' Granda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular diagnosis of aniridia (PAX6 gene)
Karolinska University Hospital - Clinical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

Molecular diagnosis of hereditary glaucoma (MYOC and CYP1B1 gene sequencing)
Institute of Child Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MAJADAHONDA

Molecular diagnosis of hereditary glaucoma (sequencing of CYP1B1 and MYOC genes)
Genyca Innova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of aniridia (PAX6 gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Molecular diagnosis of isolated/syndromic aniridia (PAX6 gene)
Albrecht-Kossel-Institute for Neuroregeneration (AKos)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Madrid
TRES CANTOS

Molecular diagnosis of aniridia (PAX6 gene)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
FIRENZE

Postnatal molecular diagnosis of aniridia (sequence analysis of the entire coding region of PAX6 gene)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region