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

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of cystic fibrosis : exhaustive search for mutations of CFTR gene
CHU de Lyon HCL - GH Est
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, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

Nordrhein-Westfalen
DORTMUND
Diagnosis of hereditary pancreatitis (PRSS1 and SPINK1 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Niedersachsen
HANNOVER
Diagnosis of hereditary pancreatitis (CFTR, PRSS1 and SPINK1 genes)
Medizinische Hochschule Hannover
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
MARTINSRIED/PLANEGG
Diagnosis of hereditary pancreatitis (CASR, CFTR, CPA1, CTRC, PRSS1 and SPINK1 genes)
MVZ Martinsried GmbH
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

Bayern
MÜNCHEN
Diagnosis of hereditary pancreatitis (CFTR, PRSS1 and SPINK1 genes)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
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)

VLAAMS BRABANT
LEUVEN
Diagnosis of cystic fibrosis and related disorders (CFTR gene; 50 hot spot mutations)
UZ Leuven - Campus Gasthuisberg
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

OOST-VLAANDEREN
GENT
Diagnosis of cystic fibrosis and related disorders (CFTR gene; 50 frequent mutations (first-line research))
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

OOST-VLAANDEREN
GENT
Diagnosis of hereditary chronic pancreatitis (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

LIEGE
LIEGE
Diagnosis of CFTR-related disorders (CFTR gene)
CHU de Liège - UniLab Lg
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

LIEGE
LIEGE
Diagnosis of idiopathic and hereditary chronic pancreatitis (gene panel)
CHU de Liège - UniLab Lg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ANTWERPEN
ANTWERPEN-EDEGEM
Diagnosis of CFTR-related disorders (50 hot spot mutations of CFTR gene by QF-PCR)
Centrum Medische Genetica - UZA
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of CFTR-related diseases (searching for 35 hot spot mutations)
Erasme Hospital - ULB
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of hereditary chronic pancreatitis (gene panel)
Erasme Hospital - ULB
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), PCR based techniques

Merseyside
LIVERPOOL
Molecular diagnosis of Hereditary Pancreatitis (PRSS1, SPINK1 genes)
Liverpool Women's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Suisse Romande
GENÈVE
Diagnosis of hereditary chronic pancreatitis (SPINK1, PRSS1 genes)
Hôpitaux Universitaires de Genève HUG
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

STEIERMARK
GRAZ
Diagnosis of hereditary pancreatitis (CFTR, SPINK1, and PRSS1 genes)
Medizinische Universität Graz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

HAINAUT
GOSSELIES
Diagnosis of CFTR-related diseases (searching for 50 hot spot mutations by QF-PCR)
Institut de Pathologie et de Génétique
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Suisse Alémanique
BERN
Diagnosis of CFTR, CTRC, PRSS1 and SPINK1-related hereditary pancreatitis
Universitätsspital Inselspital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of CFTR-related diseases (searching for 50 hot spot mutations by QF-PCR + sequencing of CFTR gene by NGS)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Newborn screening
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), PCR based techniques

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of hereditary chronic pancreatitis (gene panel)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of cystic fibrosis and related disorders (CFTR gene; 36 hot spot mutations)
Universitair Ziekenhuis Brussel
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Gelderland
NIJMEGEN
Molecular diagnosis of Hereditary Pancreatitis (PRSS1 and SPINK1 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

Rheinland-Pfalz
INGELHEIM AM RHEIN
Diagnosis of hereditary pancreatitis (CFTR, PRSS1 and SPINK1 genes)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Sachsen
DRESDEN
Diagnosis of hereditary pancreatitis (NGS screening panel: 5 genes)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
FREIBURG
Diagnosis of hereditary pancreatitis (CFTR, PRSS1 and SPINK1 genes)
SYNLAB MVZ Freiburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
MANNHEIM
Diagnosis of hereditary pancreatitis (CFTR, CTRC, PRSS1 and SPINK1 genes)
Zentrum für Humangenetik Mannheim
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Sachsen
LEIPZIG
Diagnosis of hereditary pancreatitis (CFTR, PRSS1 and SPINK1 genes)
MVZ Labor Dr. Reising-Ackermann und Kollegen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of hereditary pancreatitis (PRSS1 and SPINK1 genes)
Diagenom GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Hamburg
HAMBURG
Diagnosis of hereditary pancreatitis (CFTR, CPA1, CTRC, PRSS1 and SPINK1 genes)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
MÜNCHEN
Diagnosis of hereditary pancreatitis (CPA1, CTRC, PRSS1 and SPINK1 genes)
Medizinisch Genetisches Zentrum München
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), Sanger sequencing

VLAAMS BRABANT
LEUVEN
Diagnosis of hereditary chronic pancreatitis (SPINK gene; c.101A>G (p.N34S) mutation)
UZ Leuven - Campus Gasthuisberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing

NOUVELLE AQUITAINE
POITIERS
Diagnosis of hereditary chronic pancreatitis (CFTR gene)
CHU de Poitiers
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

Suisse Alémanique
AARAU
Molecular diagnosis of hereditary pancreatitis (SPINK1 gene)
Kantonsspital Aarau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

BOURGOGNE-FRANCHE-COMTE
BESANÇON
Diagnosis of hereditary chronic pancreatitis (CFTR gene)
CHU de Besançon - Hôpital Jean Minjoz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Niedersachsen
HANNOVER
Diagnosis of hereditary pancreatitis (PRSS1 and SPINK1 genes)
amedes genetics im MVZ wagnerstibbe
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Hamburg
HAMBURG
Diagnosis of hereditary pancreatitis (CFTR, CTRC, PRSS1 and SPINK1 genes)
MVZ Fenner & Krasemann
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

NOUVELLE AQUITAINE
BORDEAUX
Diagnosis of hereditary chronic pancreatitis (CFTR gene)
CHU de Bordeaux-GH Pellegrin
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), Sanger sequencing, PCR based techniques, Array based techniques

Baden-Württemberg
KARLSRUHE
Diagnosis of hereditary pancreatitis (CFTR, PRSS1 and SPINK1 genes)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Hamburg
HAMBURG
Diagnosis of hereditary pancreatitis (CTRC, PRSS1 and SPINK1 genes)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Suisse Alémanique
SCHLIEREN
Molecular diagnosis of hereditary pancreatitis (gene panel CFTR , PRSS1, SPINK1, CTRC)
Universität Zürich
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technique(s)
: NGS sequencing (except WES)

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
Diagnosis of hereditary chronic pancreatitis (CFTR gene)
Centre de Biologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of hereditary chronic pancreatitis (PRSS1 gene)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
TÜBINGEN
Diagnosis of hereditary chronic pancreatitis (CFTR, CPA1, CTRC, PRSS1, SPINK1 genes: sequencing)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ILE-DE-FRANCE
PARIS
Diagnosis of hereditary chronic pancreatitis (Panel)
AP-HP.Centre - Université de Paris - Hôpital Cochin
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)

HAUTS-DE-FRANCE
LILLE
Diagnosis of hereditary chronic pancreatitis (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

BRETAGNE
BREST
Diagnosis of hereditary chronic pancreatitis (Panel)
CHU de Brest - Hôpital de la Cavale Blanche
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)
: NGS sequencing (except WES), PCR based techniques

Nordrhein-Westfalen
KÖLN
Diagnosis of hereditary pancreatitis (CFTR, CTRC, PRSS1 and SPINK1 genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Bayern
MÜNCHEN
Diagnosis of hereditary pancreatitis (CPA1, CTRC, PRSS1 and SPINK1 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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of hereditary chronic pancreatitis (CFTR gene)
Laboratoire Cerba
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), Sanger sequencing

Suisse Alémanique
BERN
Diagnosis of Malabsorption and Diarrhea (Panel)
Universitätsspital Inselspital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

OCCITANIE
MONTPELLIER
Diagnosis of hereditary chronic pancreatitis (CFTR gene)
IURC - Institut Universitaire de Recherche Clinique
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, PCR based techniques, MLPA based techniques

Mecklenburg-Vorpommern
GREIFSWALD
Diagnosis of hereditary pancreatitis (CFTR, CTRC, CPA1, PRSS1 and SPINK1 genes)
Institut für Humangenetik der Universitätsmedizin Greifswald
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), Sanger sequencing, MLPA based techniques

ANTWERPEN
ANTWERPEN-EDEGEM
Diagnosis of CFTR-related disorders (CFTR gene)
Centrum Medische Genetica - UZA
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

HAINAUT
GOSSELIES
Diagnosis of hereditary chronic pancreatitis (gene panel)
Institut de Pathologie et de Génétique
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)

LIEGE
LIEGE
Diagnosis of CFTR-related disorders (50 hot spot mutations of CFTR gene by QF-PCR)
CHU de Liège - UniLab Lg
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

LIEGE
LIEGE
Diagnosis of CFTR-related disorders (TG-repeats in intron 8)
CHU de Liège - UniLab Lg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

LIEGE
LIEGE
Diagnosis of hereditary chronic pancreatitis (gene panel)
CHU de Liège - UniLab Lg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

TRENTINO ALTO ADIGE
ROVERETO
Diagnosis of hereditary pancreatitis [panel of genes]
MAGI'S LAB srl
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), Sanger sequencing

GRAND-EST
STRASBOURG
Diagnosis of hereditary chronic pancreatitis (CFTR gene)
CHU de Strasbourg - Hôpital Civil
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)
: PCR based techniques

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of hereditary chronic pancreatitis (CFTR, CPA1, CTRC, PRSS1, SPINK1 and TRPV6 genes)
CHU de Lyon HCL - GH Est
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, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

AUVERGNE-RHONE-ALPES
LYON
Diagnosis of male infertility with azoospermia or oligozoospermia due to single gene mutation (CFTR gene)
Eurofins Biomnis
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), PCR based techniques

Nordrhein-Westfalen
MÖNCHENGLADBACH
Diagnosis of hereditary pancreatitis (PRSS1 gene)
MVZ Dr. Stein + Kollegen Mönchengladbach
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
SINGEN /HTWL.
Diagnosis of hereditary pancreatitis (CFTR, CTRC, PRSS1 and SPINK1 genes: sequencing, MLPA)
MVZ Laborärzte Singen GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Capital City Prague
PRAHA
Prenatal and postnatal diagnosis of hereditary pancreatitis (PRSS1 and SPINK1 genes)
University Hospital Motol
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bratislavsky kraj
BRATISLAVA
Molecular diagnosis of hereditary chronic pancreatitis (PRSS1 and SPINK1 genes: all exons including intron bounderies, sequencing and MLPA)
Onkologicky ustav sv. Alzbety s.r.o.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technique(s)
: MLPA based techniques

PIEMONTE
TORINO
Molecular diagnosis of hereditary pancreatitis (SPINK1, CFTR, PRSS1 genes)
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bayern
REGENSBURG
Diagnosis of hereditary pancreatitis (PRSS1 and SPINK1 genes)
MVZ Dr. Staber & Kollegen GmbH
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 pancreatitis (PRSS1, SPINK1 genes)
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Niedersachsen
OSNABRÜCK
Diagnosis of hereditary pancreatitis (CFTR, CTRC, CPA1, PRSS1 and SPINK1 genes)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
BAD STEBEN
Diagnosis of hereditary pancreatitis (CFTR, PRSS1 and SPINK1 genes)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
KÖLN
Diagnosis of hereditary pancreatitis (CFTR, PRSS1 and SPINK1 genes)
Zotz|Klimas Standort Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Warszawa
WARSZAWA
Molecular diagnosis of predisposition to hereditary pancreatitis (CFTR, SPINK1 and PRSS1 genes)
Instytut Matki i Dziecka
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

Andalucía
MÁLAGA
Diagnosis of hereditary chronic pancreatitis (SPINK1, PRSS1, CTRC 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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of hereditary pancreatitis (CFTR, CTRC, PRSS1 and SPINK1 genes)
Centogene AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Poznan
POZNAN
Molecular diagnosis of hereditary chronic pancreatitis (SPINK1, PRSS1 and CFTR genes)
Centrum Genetyki Medycznej GENESIS
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Warszawa
WARSAW
Molecular diagnosis of chronic hereditary pancreatitis (PRSS1, SPINK1, CTRC and CFTR genes : mutation analysis)
NZOZ GENOMED
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bremen
BREMEN
Diagnosis of hereditary pancreatitis (CFTR, PRSS1 and SPINK1 genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
ULM
Diagnosis of hereditary pancreatitis (CTRC, PRSS1 and SPINK1 genes)
MVZ Humangenetik Ulm GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Madrid
MADRID
Diagnosis of hereditary chronic pancreatitis (CFTR gene)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Baden-Württemberg
STUTTGART
Diagnosis of hereditary pancreatitis (CFTR, PRSS1 and SPINK1 genes: sequencing)
Praxis für Humangenetik und Prävention
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of hereditary chronic pancreatitis (CASR, CFTR, CTRC, PRSS1, SPINK1 genes)
LabGenetics - 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
Technique(s)
: Sanger sequencing

CAMPANIA
NAPOLI
Diagnosis of hereditary chronic pancreatitis (SPINK1, PRSS1 genes)
Biotecnologie Avanzate Srl
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

Warszawa
WARSAW
Molecular diagnosis of chronic hereditary pancreatitis (PRSS1, SPINK1, CTRC and CFTR genes : mutation analysis)
MEDGEN
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: PCR based techniques

LAZIO
ROMA
Molecular diagnosis of hereditary pancreatitis (PRSS1, SPINK1, PRSS2 and CTRC genes)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Cataluña
TERRASSA
Diagnosis of hereditary chronic pancreatitis (CTRC, SPINK1, PRSS1 genes)
Consorci Sanitari de Terrassa
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
STUTTGART
Diagnosis of hereditary pancreatitis (CFTR, PRSS1 and SPINK1 genes)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Nordrhein-Westfalen
KÖLN
Diagnosis of hereditary pancreatitis (PRSS1 gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
SANT JOAN D'ALACANT
Diagnosis of hereditary chronic pancreatitis (panel)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Sachsen
DRESDEN
Diagnosis of hereditary pancreatitis (CFTR, CTRC, PRSS1 and SPINK1 genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Cataluña
BARCELONA
Diagnosis of hereditary chronic pancreatitis (PRSS1, SPINK1 genes)
Hospital del Mar
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Alberta
EDMONTON
Molecular Diagnosis of Hereditary Pancreatitis (PRSS1 targeted mutation analysis)
University of Alberta
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing

Fyn
ODENSE
Molecular diagnosis of hereditary chronic pancreatitis (CTRC, PRSS1, SPINK1 genes)
Odense University hospital
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, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Comunidad Valenciana
ELCHE
Diagnosis of hereditary chronic pancreatitis (CTRC, PRSS1, SPINK1 genes)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

WIEN
WIEN
Molecular diagnosis of hereditary chronic pancreatitis (CFTR, PRSS1, and SPINK1 genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Madrid
MADRID
Diagnosis of endocrinopathies (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Rheinland-Pfalz
MAINZ
Diagnosis of hereditary pancreatitis (CTRC, PRSS1 and SPINK1 genes)
Universitätsmedizin Mainz
Purpose(s)
: Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of Rett syndrome and epilepsy (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of bone dysplasia (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of hereditary chronic pancreatitis (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)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of intellectual disability (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of inherited cancer-predisposing syndrome (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of immunodeficiency (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

WIEN
WIEN
Diagnosis of hereditary chronic pancreatitis (SPINK1, PRSS1, CFTR, and CTRC gene)
Hanusch Krankenhaus
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

WIEN
WIEN
Molecular diagnosis of hereditary pancreatitis (CPA1, CTRC, PRSS1, and SPINK1 genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ATTIKI
ATHENS
Molecular diagnosis of hereditary pancreatitis (CFTR, SPINK 1, PRSS 1 genes)
"Aghia Sophia" Children's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Østlandet
OSLO
Molecular diagnosis of hereditary pancreatitis (PRSS1 gene)
Oslo University Hospital, Ullevaal
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

PUGLIA
SAN GIOVANNI ROTONDO
Molecular diagnosis of hereditary pancreatitis (PRSS1, SPINK1 genes)
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

South Moravia
BRNO
Molecular diagnosis of hereditary chronic pancreatitis (PRSS1, SPINK1 and CFTR genes)
University hospital Brno
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

SICILIA
MESSINA
Molecular diagnosis of hereditary chronic pancreatitis (CFTR gene)
A.O.U. Policlinico "G. Martino"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LAZIO
ROMA
Molecular diagnosis of predisposition to hereditary chronic pancreatitis (SPINK1, PRSS1 genes)
USI - Unione Sanitaria Internazionale
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics

NORTE
PORTO
Molecular diagnosis of hereditary chronic pancreatitis (PRSS1 and SPINK1 genes: sequencing of the entire conding region and deletion/duplication analysis by MLPA)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

Berlin
BERLIN
Diagnosis of hereditary pancreatitis (CFTR, CTRC, PRSS1 and SPINK1 genes)
IFLb Laboratoriumsmedizin Berlin GmbH
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

SUL
LISBOA