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GERMANY

Bayern
REGENSBURG

Accreditation Molecular diagnosis of holoprosencephaly (GLI2, NODAL, PTCH1, SHH, SIX3, TGIF, ZIC2 genes: sequencing, NGS panel holoprosencephaly, MLPA)
Universitätsklinikum Regensburg
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), Sanger sequencing, MLPA based techniques

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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

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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

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NETHERLANDS

Limburg
MAASTRICHT

Accreditation Molecular diagnosis of Holoprosencephaly (SIX3, ZIC2, TGIF, SHH, GLI2, DISP1 and PTCH1 gene)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Sachsen
DRESDEN

Accreditation Molecular diagnosis of holoprosencephaly (GLI2, SHH, SIX3, TGIF and ZIC2 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

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Molecular diagnosis of Holoprosencephaly 7 (PTCH1ágene)
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

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Molecular diagnosis of holoprosencephaly (CDON, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2 genes: Brain Development Disorders Panel)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

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GERMANY

Baden-Württemberg
MANNHEIM

Accreditation Molecular diagnosis of Holoprosencephaly 3 and 7 (SHH, PTCH1 genes)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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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

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis in case of Unexplained Intellectual Deficit with Multiple Congenital Anomalies (SNP-array)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Bayern
MÜNCHEN

Accreditation Molecular diagnosis of holoprosencephaly (GLI2, PTCH1, SHH, SIX3, TGIF, ZIC2 genes)
Pränatalmedizin München
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

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of holoprosencephaly (PTCH1, SIX3, TGIF1, ZIC2, GLI2, TDGF1, FOXH1, FGF8, CDON, NODAL, DLL1, GAS1 genes / NGS)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of congenital hypogonadotropic hypogonadism (Panel)
GHU Paris-Sud - Hôpital de Bicêtre
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)

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UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation Molecular Cytogenetic diagnosis of Holoprosencephaly (by FISH of SIX3)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

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UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation Molecular Diagnosis of Disorders of Cerebral Malformation (ARX, DCX, GPR56, NDE1, PAFAH1B1, TUBA1A, TUBA8, TUBB2B gene panel: Sequencing of the entire coding region of gene (s) plus copy number analysis / targeted mutation analysis: ARX gene exon 2
St James's University 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)

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FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of intellectual deficiency and congenital malformation (cryptic subtelomeric and intercalated anomalies by array CGH)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

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FRANCE

BRETAGNE
RENNES

Molecular diagnosis of holoprosencephaly (PTCH1, GAS1, GLI2, SHH, ZIC2, SIX3, TGIF1, CDON, DISP1, DLL1, FGF8, FOXH1, NODAL, TDGF1 genes; NGS)
CHU de Rennes - Hôpital Pontchaillou
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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of holoprosencephaly (PTCH1, SHH, SIX3, TGIF1, ZIC2 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

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NORWAY

Østlandet
OSLO

Molecular diagnosis of holoprosencephaly (SHH gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
FREIBURG

Molecular diagnosis of holoprosencephaly 2 and 3 (SIX3, SHH genes)
Institut für Humangenetik am Universitätsklinikum Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
BONN

Molecular diagnosis of holoprosencephaly 3 (SHH gene)
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

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SPAIN

Madrid
MADRID

Diagnosis of holoprosencephaly
Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technical procedure(s) : MLPA based techniques, Array based techniques

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SPAIN

País Vasco
DERIO

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

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GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of Holoprosencephaly 7 (PTCH1 gene: sequencing / MLPA)
Praxis für Humangenetik und Prävention
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

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SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of holoprosencephaly (SHH, PTCH1, SIX3, TDGF1, TGIF1, ZIC2, CDON, DISP1, DLL1, FGF8, FOXH1, GAS1, GLI2, NODAL genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Sachsen
DRESDEN

Molecular diagnosis of Holoprosencephaly 7 (PTCH1 gene: sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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ITALY

LIGURIA
GENOVA

Molecular diagnosis of holoprosencephaly (SHH gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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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

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Holoprosencephaly (SHH, TGIF, and ZIC2 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of holoprosencephaly (SIX3 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

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SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of holoprosencephaly (SHH gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Castilla - León
SALAMANCA

Molecular diagnosis of holoprosencephaly (GLI2 gene / sequencing)
Universidad de Salamanca. Facultad de Medicina
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of Holoprosencephaly (PTCH, SHH, ZIC2, SIX3, TGIF genes: deletion/duplication analysis by MLPA for all genes and sequencing of the entire coding region for SHH and SIX3 genes)
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
Technical procedure(s) : MLPA based techniques

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HUNGARY

Közép-Magyarország
BUDAPEST

Mutation screening in combined pituitary hormone deficiency
2nd Department of Internal Medicine, Semmelweis University
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : Sanger sequencing

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of holoprosencephaly (gene 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)

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FRANCE

ILE-DE-FRANCE
PARIS

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) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of congenital hypogonadotropic hypogonadism (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)

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Diagnosis of pituitary deficiency (Panel)
CHU de Marseille - Hôpital de la Conception
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)

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FRANCE

BRETAGNE
RENNES

Diagnosis of holoprosencephaly (Panel)
CHU de Rennes - Hôpital Pontchaillou
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) : NGS sequencing (except WES)

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FRANCE

NORD-PAS-DE-CALAIS
LILLE

Molecular cytogenetics diagnosis of holoprosencephaly : search for microdeletions in HPE1 and HPE6 locus and in SIX3, SHH, TGIF, ZIC2 and PTCH1 genes
GH de l'Institut Catholique de Lille - Hopital Saint Vincent de Paul
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of holoprosencephaly (SHH, ZIC2, SIX3, TGIF1, FOXH1 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

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SPAIN

Cataluña
BARCELONA

Biochemical diagnosis of nonacquired combined pituitary hormone deficiency
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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