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GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
Molecular diagnosis of oculocutaneous albinism type 1, 2 and 4 (OCA2, SLC45A2, TYR genes)
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
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 albinism (GPR143, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1 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

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of oculocutaneous albinism type 1-4, 7 (C10ORF11, MC1R, OCA2, SLC45A2, TYR, TYRP1 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

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of oculocutaneous albinism type 1-4 (OCA2, SLC45A2, TYR, TYRP1 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic 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 oculocutaneous albinism type 1-4 (MC1R, OCA2, SLC45A2, TYR and TYRP1)
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

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of oculocutaneous albinism type 1-4 (MC1R, OCA2, SLC45A2, TYR and TYRP1)
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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of oculocutaneous albinism type 4 (SLC45A2 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of albinism (NGS panel: AP3B1, BLOC1S3, BLOC1S6, C10orf11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, OCA2, SLC24A5, SLC45A2, TYR, TYRP1)
Asper Biotech Ltd.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

AQUITAINE
BORDEAUX

Accreditation
Diagnosis of albinism (Panel)
CHU de Bordeaux-GH Pellegrin
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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of storage pool platelet disease
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Accreditation
Diagnosis of storage pool platelet disease
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

FRANCE

MIDI-PYRENEES
TOULOUSE

Diagnosis of storage pool platelet disease
CHU de Toulouse - Hôpital Purpan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

Diagnosis of storage pool platelet disease
CHRU de Montpellier - Hôpital Saint-Eloi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

DENMARK

Sjælland
GLOSTRUP

Prenatal and postnatal molecular diagnosis of oculocutaneous albinism type 4 (SLC45A2 sequence anlaysis: carrier screening)
Kennedy Center
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of oculocutaneous albinism type 1-4, 6 and 7 (OCA2, TYR genes: sequencing / MLPA; C10ORF11, SLC45A2, SLC24A5, TYRP1 genes: sequencing)
Gemeinschaftspraxis 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

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Oculocutaneous albinism type 4 (SLC45A2 gene: Sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of oculocutaneous albinism (GPR143, MC1R, TYR, TYRP1, OCA2, SLC24A5, SLC45A2 genes)
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 oculocutaneous albinism type 4 (SLC45A2 gene)
DNA Data
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

Diagnosis of storage pool platelet disease
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

FRANCE

LORRAINE
VANDOEUVRE-LÈS-NANCY

Diagnosis of storage pool platelet disease
CHU de Nancy - Hôpital de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular and biochemical diagnosis of storage pool platelet disease (WAS gene)
IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of oculocutaneous albinism (TYR, TYRP1, OCA2, SLC45A2 genes)
Ospedale Niguarda Ca' Granda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of oculocutaneous albinism (TYR, OCA2, TYRP1, SLC45A2, C10ORF11, SLC24A5 genes)
Laboratorio de Genética Clínica, S.L.
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, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
HEIDELBERG

Electron microscopic diagnosis of hypopigmentation of the skin (focus on OCA, Griscelli disease, Hermansky-Pudlak syndrome)
Universitäts-Hautklinik Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

HUNGARY

Dél-Alföld
SZEGED

Oculocutaneous albinism
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