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16 Result(s)

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Diagnostic test(s) performed in the laboratory (16)

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of familial nonpolyposis colon cancer (MLH1, MSH2, MSH6, PMS2 genes)
Heinrich-Heine-Universität Düsseldorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of Nager syndrome (SF3B4 gene)
Heinrich-Heine-Universität Düsseldorf
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), Sanger sequencing

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of chromosome Y deletions (AZF)
Heinrich-Heine-Universität Düsseldorf
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
Technique(s) : PCR based techniques

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Heinrich-Heine-Universität Düsseldorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of cystic fibrosis
Heinrich-Heine-Universität Düsseldorf
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) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of attenuated familial adenomatous polyposis (APC, MUTYH, NTHL1, POLD1, POLE genes)
Heinrich-Heine-Universität Düsseldorf
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of multiple exostoses (EXT1 and EXT2 genes)
Heinrich-Heine-Universität Düsseldorf
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of dopa-responsive dystonia (GCH1 gene)
Heinrich-Heine-Universität Düsseldorf
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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Subtelomer analysis and array-CGH in case of unexplained intellectual disability
Heinrich-Heine-Universität Düsseldorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of acrofacial dysostosis (NGS screening panel: 9 genes)
Heinrich-Heine-Universität Düsseldorf
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), Sanger sequencing

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of Treacher-Collins syndrome (NGS screening panel: 6 genes)
Heinrich-Heine-Universität Düsseldorf
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of Coffin-Siris syndrome (NGS screening panel: 8 genes)
Heinrich-Heine-Universität Düsseldorf
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) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of myoclonus-dystonia syndrome (SGCE gene)
Heinrich-Heine-Universität Düsseldorf
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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of Nicolaides-Baraitser syndrome (SMARCA2 gene)
Heinrich-Heine-Universität Düsseldorf
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)

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of familial stomach cancer (CDH1 gene)
Heinrich-Heine-Universität Düsseldorf
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)

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of juvenile polyposis syndrome (BMPR1A and SMAD4 genes)
Heinrich-Heine-Universität Düsseldorf
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)