Search for a diagnostic test
19 Result(s)
Caption
: Accreditation
= ;

GERMANY
Bayern
MÜNCHEN
Diagnosis of MHC class II deficiency (MHC2TA, RFXANK, RFXAP, RFX5 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of immunodeficiency by defective expression of HLA class 2 (panel)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

GERMANY
Bayern
MARTINSRIED
Diagnosis of severe combined immunodeficiency (NGS screening panel, 43 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

NETHERLANDS
Utrecht
UTRECHT
Molecular diagnosis of Primary Immunodeficiency (gene panel; PID00v17.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

GERMANY
Baden-Württemberg
ULM
Diagnosis of MHC class II deficiency (MHC2TA, RFXANK, RFXAP, RFX5 genes)
DRK Baden-Württemberg/ Hessen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of expression deficiency of HLA class 2 (Panel)
Hôpital Necker-Enfants Malades
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Immunology
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

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of primary immunodeficiency (Panel)
Hôpital Necker-Enfants Malades
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)

SPAIN
Andalucía
MÁLAGA
Diagnosis of immunodeficiency by defective expression of HLA class 2 (CIITA, RFX5, RFXAP, RFXANK genes)
IMEGEN - Delegación Málaga
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

SPAIN
Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of immunodeficiency by defective expression of HLA class 2 (CIITA, RFXANK, RFXAP, RFX5 genes)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

SPAIN
Comunidad Valenciana
ELCHE
Diagnosis of immunodeficiency by defective expression of HLA class 2 (CIITA, RFX5, RFXANK, RFXAP genes)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

SPAIN
Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of immunodeficiency by defective expression of HLA (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ITALY
VENETO
PADOVA
Diagnosis of rare gastroenterologic diseases [panel of genes]
Azienda Ospedaliera di Padova
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

SPAIN
Galicia
A CORUÑA
Diagnosis of rare genetic immune disease (panel - 458 genes)
Health In Code
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)

SPAIN
Galicia
A CORUÑA
Diagnosis of primary immunodeficiency (panel - 301 genes)
Health In Code
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)

SPAIN
Galicia
A CORUÑA
Diagnosis of combined T and B cell immunodeficiency (panel - 37 genes)
Health In Code
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)

SPAIN
Galicia
A CORUÑA
Diagnosis of immunodeficiency by defective expression of MHC class I and II (panel - 13 genes)
Health In Code
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)

SPAIN
Cataluña
BARCELONA
Diagnosis of primary immunodeficiency (panel)
Hospital Universitari Vall d'Hebron
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ITALY
LOMBARDIA
BRESCIA
Molecular diagnosis of immunodeficiency by defective expression of HLA class 2 (CIITA, RFX5, RFXANK, RFXAP genes)
ASST Spedali Civili di Brescia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

PORTUGAL
NORTE
PORTO