Search for a diagnostic test
45 Result(s)
Caption
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BRETAGNE
RENNES
Molecular diagnosis of hereditary hyperferritinemia with congenital cataracts (FTL gene)
CHU de Rennes - Hôpital Pontchaillou
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)
: Sanger sequencing

Nordrhein-Westfalen
DORTMUND
Molecular diagnosis of hyperferritinemia-cataract syndrome (FTL gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

Noord-Holland
AMSTERDAM
Molecular diagnosis of Hyperferritinemia-Cataract Syndrome (FTL gene)
VUmc - VU medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Gelderland
NIJMEGEN
Molecular diagnosis of Hyperferritinemia Cataract Syndrome (FTL gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
KÖLN
Molecular diagnosis of hyperferritinemia-cataract syndrome (FTL gene)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
FREIBURG
Molecular diagnosis of hyperferritinemia-cataract syndrome (FTL 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

Cataluña
L'HOSPITALET DE LLOBREGAT
Molecular diagnosis of hereditary hyperferritinemia with congenital cataracts (FTL gene)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Hamburg
HAMBURG
Molecular diagnosis of hyperferritinemia-cataract syndrome (FTL gene)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

BRETAGNE
RENNES
Diagnosis of iron metabolism disoders (Panel)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

Bayern
MÜNCHEN
Molecular diagnosis of hyperferritinemia-cataract syndrome (FTL gene)
Pränatalmedizin München
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
SINGEN /HTWL.
Molecular diagnosis of hyperferritinemia-cataract syndrome (FTL gene)
Institut für Laboratoriumsmedizin und Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Cambridgeshire
CAMBRIDGE
Molecular diagnosis of Hereditary hyperferritinemia with congenital cataracts (FTL gene)
Addenbrooke's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Ontario
HAMILTON
Molecular Diagnosis of Hyperferritinemia, Cataract Syndrome (FTL sequencing)
McMaster University Medical Centre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
TÜBINGEN
Molecular diagnosis of hereditary hyperferritinemia with congenital cataracts (FTL gene: sequencing)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Ontario
LONDON
Molecular Diagnosis of Genetic Hyperferritinemia NGS Panel (15 genes)
London Health Sciences Centre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

OCCITANIE
MONTPELLIER
Molecular diagnosis of hyperferritinemia-cataract syndrome (FTL gene)
CHU de Montpellier - Hôpital Saint-Eloi
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

LAZIO
ROMA
Molecular diagnosis of hereditary hyperferritinemia with congenital cataracts (FTL gene)
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Niedersachsen
OSNABRÜCK
Molecular diagnosis of hyperferritinemia-cataract syndrome (FTL gene)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of hereditary hyperferritinemia with congenital cataracts (FTL gene)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

País Vasco
BARAKALDO
Biochemical diagnosis of the hereditary hyperferritinemia with congenital cataracts
Hospital Universitario Cruces - Osakidetza
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Bayern
MÜNCHEN
Molecular diagnosis of hyperferritinemia-cataract syndrome (FTL gene)
Helmholtz Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

VENETO
COSTOZZA DI LONGARE
Molecular diagnosis of hyperferritinemia-cataract syndrome (FTL gene)
B.I.R.D. Foundation
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

País Vasco
BARAKALDO
Diagnosis of hereditary hyperferritinemia with congenital cataracts (FTL gene)
Hospital Universitario Cruces - Osakidetza
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

LOMBARDIA
MONZA
Molecular diagnosis of hereditary hyperferritinemia with congenital cataracts (IRE L-Ferritine gene)
Consorzio per la Genetica Molecolare Umana
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ILE-DE-FRANCE
PARIS
Molecular diagnosis of hereditary hyperferritinemia-cataract syndrome and genetic hyperferritinemia without iron overload (sequencing of translational regulatory sequence 'IRE' and exon 1 of FTL gene)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
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
Technique(s)
: Sanger sequencing

LAZIO
ROMA
Postnatal molecular diagnosis of hereditary hyperferritinemia with congenital cataracts (FTL gene)
IRCCS Istituto Dermatologico San Gallicano
Purpose(s)
: 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
Technique(s)
: Sanger sequencing

NOUVELLE AQUITAINE
BORDEAUX
Molecular diagnosis of cataract-hyperferritinemia syndrome (FTL gene)
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
Technique(s)
: Sanger sequencing

Baden-Württemberg
HEIDELBERG
Molecular diagnosis of hyperferritinemia-cataract syndrome (FTL gene: sequencing of IRE)
Molekulargenetisches Labor der Gemeinschaftspraxis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Andalucía
ARMILLA
Molecular diagnosis of hereditary hyperferritinemia with congenital cataracts (entire coding sequence of FTL gene)
Lorgen G.P.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

AUVERGNE-RHONE-ALPES
LYON
Diagnosis of hereditary hyperferritinemia with congenital cataracts (FTL gene)
Centre de Biologie et de Pathologie Est
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
PATERNA
Molecular diagnosis of hereditary hyperferritinemia with congenital cataracts (FTL gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Comunidad Valenciana
PATERNA
Molecular diagnosis of hereditary hyperferritinemia with congenital cataracts (FTL gene)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Comunidad Valenciana
SANT JOAN D'ALACANT
Molecular diagnosis of hereditary hyperferritinemia with congenital cataracts (FTL gene / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

NORTE
PORTO
Molecular diagnosis of Hereditary hyperferritinemia with/without congenital cataracts (FTL 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

BRETAGNE
BREST
Diagnosis of iron metabolism disoders (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)

Comunidad Valenciana
ELCHE
Diagnosis of hereditary hyperferritinemia with congenital cataracts (FTL gene)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of rare hereditary hemocromatosis (gene panel)
BLOODGENETICS S.L
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of hereditary hyperferritinemia with congenital cataracts (FTL gene)
BLOODGENETICS S.L
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

Sachsen
DRESDEN
Molecular diagnosis of hereditary hyperferritinemia-cataract syndrome (FTL gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing

VENETO
PADOVA
Molecular diagnosis of rare cataract [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
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
Technique(s)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

EMILIA ROMAGNA
BOLOGNA
Molecular diagnosis of hyperferritinemia with congenital cataracts syndrome (FTL gene)
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LARISA
LARISSA
Molecular diagnosis of hereditary hyperferritinemia-cataract syndrome (FTL gene sequencing)
University of Thessaly (UTH)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

PUGLIA
SAN GIOVANNI ROTONDO
Postnatal molecular diagnosis of hyperferritinemia with cataracts (targeted mutation analysi and sequence analysis of selected exons of FTL gene)
IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons

TOSCANA
SIENA
Molecular diagnosis of hereditary hyperferritinemia with congenital cataracts (FTL gene)
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Madrid
SAN SEBASTIÁN DE LOS REYES