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UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of autosomal recessive Osteopetrosis (TCIRG1 gene: Sequencing of the entire coding region of gene (s) / Testing for known mutations in family members)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region

GERMANY

Berlin
BERLIN

Accreditation
Molecular diagnosis of autosomal recessive osteopetrosis (CLCN7, OSTM1, TCIRG1 genes)
Charité - Universitätsmedizin Berlin (CVK)
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 autosomal recessive osteopetrosis (CLCN7, OSTM1, PLEKHM1, TCIRG1, TNFRSF11A, TNFSF11 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of autosomal recessive osteopetrosis (CLCN7, OSTM1, PLEKHM1, TCIRG1, TNFRSF11A, TNFSF11 genes)
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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Connective Tissue Disorder - Increased Bone Density/Osteopetrosis NGS Panel (9 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

GERMANY

Berlin
BERLIN

Accreditation
Molecular diagnosis of autosomal recessive osteopetrosis (CLCN7, TCIRG1 genes)
Charité - Universitätsmedizin Berlin (CVK)
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
Diagnosis of osteopetrosis (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)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Autosomal Recessive Osteopetrosis type 04 (CLCN7 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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of osteopetrosis (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
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 autosomal recessive osteopetrosis (CLCN7, OSTM1, PLEKHM1, TCIRG1, TNFRSF11A, TNFSF11 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

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of malignant autosomal recessive osteopetrosis (CLCN7 and TCIRG1 genes)
Acibadem healthcare group
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

SUL
LISBOA

Molecular diagnosis of osteopetrosis (CLCN7 gene): sequencing of the entire coding region.
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive malignant osteopetrosis (TCIRG1, CLCN7, TNFSF11 genes / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
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, Whole Exome Sequencing (WES)

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of infantile malignant osteopetrosis (TCIRG1 gene)
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Lariboisière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of autosomal recessive malignant osteopetrosis (TCIRG1 gene)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive malignant osteopetrosis (TCIRG1, CLCN7 genes)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of osteopetrosis (CLCN7 and TCIRG1 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 autosomal recessive malignant osteopetrosis (TCIRG1, TNFSF11 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

Comunidad Valenciana
ELCHE

Diagnosis of autosomal recessive malignant osteopetrosis (CLCN7, OSTM1, TNFSF11, TCIRG1 genes)
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

ILE-DE-FRANCE
PARIS

Diagnosis of osteopetrosis (Panel)
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Lariboisière
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)

ITALY

LOMBARDIA
SEGRATE

Molecular diagnosis of osteopetrosis
CNR Istituto Tecnologie Biomediche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
ULM

Molecular diagnosis of infantile malignant osteopetrosis (CLCN7, OSTM1, TCIRG1 and TNFSF11 genes)
Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of osteopetrosis (TCIRG1 and CLCN7 gene sequencing)
Schneider Children's Medical Center of Israel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

ABRUZZO
L'AQUILA

Molecular diagnosis of autosomal recessive osteopetrosis (TCIRG1, CLCN7, OSTM1, TNFRS11A, TNFSF11 genes)
Università degli Studi dell'Aquila - Coppito 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
BRESCIA

Molecular prenatal diagnosis of malignant osteopetrosis (CLCN7, TCIRG1, OSTM1, TNFSF11 genes)
Azienda Ospedaliera Spedali Civili di Brescia
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of osteopetrosis (AMER1, CLCN7, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11, CA2 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, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Preimplantation genetic diagnosis of autosomal recessive malignant osteopetrosis (TCIRG1 gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics