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

Nordrhein-Westfalen
AACHEN
Diagnosis of autosomal recessive polycystic kidney disease (DZIP1L, PKHD1 genes)
Universitätsklinikum Aachen
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)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Asturias
OVIEDO
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
Hospital Universitario Central de Asturias
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Risk assessment
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

Finland
HELSINKI
Molecular diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene c.1486C>T, c.10412T>G and c.107C>T)
HUSLAB
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Finland
TURKU
Molecular diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
Turku University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bayern
MARTINSRIED/PLANEGG
Diagnosis of polycystic kidney disease (NGS screening panel, 15 genes)
MVZ Martinsried 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), Sanger sequencing, MLPA based techniques

South Glamorgan
CARDIFF
Molecular diagnosis of Infantile Autosomal Recessive Polycystic Kidney disease (ARPKD, PKHD1 gene: Molecular diagnosis through sequencing and dosage analysis)
University Hospital of Wales
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), MLPA based techniques

Tayside
DUNDEE
Molecular diagnosis of Autosomal Recessive Polycystic Kidney disease (Sequence analysis of PKHD1 gene & deletion analysis by MLPA)
Ninewells Hospital and Medical School
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

Zuid-Holland
LEIDEN
Molecular diagnosis of Autosomal Recessive Polycystic Kidney Disease (PKHD1 gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Sachsen
WEIßWASSER
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
Praxis Dr. Mato Nagel
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 autosomal recessive polycystic kidney disease (PKHD1 gene)
Hôpital Necker-Enfants Malades
Purpose(s)
: Antenatal 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

Baden-Württemberg
MANNHEIM
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
Zentrum für Humangenetik Mannheim
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 autosomal recessive polycystic kidney disease (PKHD1 gene)
Diagenom GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
PATERNA
Diagnosis of polycystic kidney disease, autosomal recessive (PKHD1 gene)
Sistemas Genómicos S.L.
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Rheinland-Pfalz
INGELHEIM AM RHEIN
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene: sequencing, MLPA, linkage analysis)
Bioscientia Institut für Medizinische Diagnostik GmbH
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

Rheinland-Pfalz
INGELHEIM AM RHEIN
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
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

HAINAUT
GOSSELIES
Diagnosis of ciliopathies, renal cancers and related disorders (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), Sanger sequencing

Bayern
MÜNCHEN
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene: sequencing)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

West Yorkshire
LEEDS
Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis / Testing for known mutations in family members)
St James's University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Deletion / Duplication analysis

Wiltshire
SALISBURY
Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis)
Salisbury District Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Deletion / Duplication analysis

Baden-Württemberg
FREIBURG
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
SYNLAB MVZ Freiburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Suisse Alémanique
SCHLIEREN
Molecular diagnosis of polycystic kidney disease (gene panel PKD1, PKD2, PKHD1)
Universität Zürich
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technique(s)
: NGS sequencing (except WES)

Nordrhein-Westfalen
DORTMUND
Diagnosis of familial cystic renal disease (NGS screening panel, 18 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
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)

Bayern
MÜNCHEN
Heterozygote screening by NGS Inherited Disease Panel (Kingsmore panel)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Hamburg
HAMBURG
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
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 autosomal recessive polycystic kidney disease (PKHD1 gene)
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, MLPA based techniques

Baden-Württemberg
TÜBINGEN
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

OCCITANIE
MONTPELLIER
Diagnosis for autosomal recessive polycystic kidney disease (PKHD1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
Reference Laboratory Genetics
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), MLPA based techniques

BRETAGNE
BREST
Diagnosis of polycystic kidney disease (Panel)
CHU de Brest - Hôpital de la Cavale Blanche
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)

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of cystic renal diseases (Panel : fetal kidney hyperechoic)
CHU de Lyon HCL - GH Est
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)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of cystic renal diseases (Panel : first intention)
CHU de Lyon HCL - GH Est
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)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of cystic renal diseases (Panel : second intention)
CHU de Lyon HCL - GH Est
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)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

Bayern
MÜNCHEN
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
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), Sanger sequencing

Baden-Württemberg
TÜBINGEN
Diagnosis of rare liver diseases (NGS screening panel, 118 genes)
CeGaT 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)

HAUTS-DE-FRANCE
LILLE
Diagnosis of hereditary renal disease (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
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)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of inherited disorders of cholestasis and related disorders (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 rare hepatorenal disorders (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)

OOST-VLAANDEREN
GENT
Diagnosis of ciliopathy and related disorders (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)

Sachsen
DRESDEN
Diagnosis of familial cystic renal disease (NGS screening panel: 11 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)

VLAAMS BRABANT
LEUVEN
Diagnosis of rare genetic renal diseases (gene pane)
UZ Leuven - Campus Gasthuisberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

LAZIO
ROMA
Molecular diagnosis of polycystic kidney disease, recessive and dominant type (PKD1, PKD2, PKHD1 genes)
Istituto CSS-Mendel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Cataluña
BARCELONA
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
Hospital Clínic de Barcelona
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

Comunidad Valenciana
PATERNA
Diagnosis of autosomal recessive and dominant polycystic kidney disease (PKD1, PKD2, PKHD1 genes)
Sistemas Genómicos S.L.
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), MLPA based techniques

LAZIO
ROMA
Molecular diagnosis of polycystic kidney disease, autosomal dominant and recessive (PKD1, PKHD1 genes)
Laboratorio Genoma
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
Centogene AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Cataluña
BARCELONA
Diagnosis of the autosomal recessive polycystic kidney disease (PKHD1 gene; SNP array)
DiNA Science
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics, Other
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing, PCR based techniques

Andalucía
MÁLAGA
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
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

Andalucía
SEVILLA
Diagnosis of polycystic kidney disease, autosomal recessive (PKHD1 gene / exons 3, 36 and 58 / linkage analysis)
Hospital Universitario Virgen del Rocío
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1, DZIP1L 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, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Comunidad Valenciana
PATERNA
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
Igenomix Spain
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: PCR based techniques

Comunidad Valenciana
SANT JOAN D'ALACANT
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
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

Nordrhein-Westfalen
KÖLN
Diagnosis of autosomal recessive polycystic kidney disease (DZIP1L, PKHD1 genes)
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
ELCHE
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
Bioarray
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), MLPA based techniques

Közép-Magyarország
DEBRECEN
Molecular diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
University of Debrecen
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

País Vasco
SAN SEBASTIÁN
Diagnosis of autosomal recessive polycystic kidney disease (PKHD1 gene)
DNA Data
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), MLPA based techniques

WIEN
WIEN
Molecular diagnosis of polycystic kidney disease (PKD1, PKD2, and PKHD1 genes)
Medizinische Universität Wien
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 kidney disease (NGS screening panel: 411 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)
: NGS sequencing (except WES), Sanger sequencing

La Rioja
LOGROÑO
Diagnosis of polycystic kidney disease (panel)
Hospital San Pedro
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)

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)

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)

Madrid
TRES CANTOS
Diagnosis of autosomal recessive polycystic kidney disease (DZIP1L, PKHD1 genes)
Centro de estudios genéticos ATG Medical
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of polycystic kidney disease (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
BARCELONA
Diagnosis of rare genetic renal disease (panel)
Fundació Puigvert
Purpose(s)
: Post-natal 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)

Baden-Württemberg
ULM
Diagnosis of rare renal diseases (NGS screening panel, 268 genes)
MVZ Humangenetik Ulm GbR
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)

LAZIO
ROMA
Molecular diagnosis of polycystic kidney disease, recessive and dominant type (PKD1, PKD2, PKHD1 genes)
Centro Medico Artemisia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

PUGLIA
SAN GIOVANNI ROTONDO
Diagnosis of polycystic kidney disease, recessive type (PHKD1 gene)
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
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), MLPA based techniques

MARCHE
JESI
Molecular diagnosis of male infertility with normal virilisation due to acquired testicular defect associated with mycoplasma infection
BIOAESIS
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
JERUSALEM
Molecular diagnosis of Polycystic Kidney disease (recessive) (PKHD1 , Linkage analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

NORTE
PORTO
Diagnosis of autosomal dominant and autosomal recessive polycystic kidney disease (PKD1, PKD2 and PKHD1 gene)
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
Technique(s)
: Sanger sequencing, MLPA based techniques

Alberta
CALGARY
Molecular Diagnosis Nephronophthisis 1 (NPHP1)
Alberta Children's Hospital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

Rabat
RABAT
Molecular diagnosis of male infertility due to Y chromosome deletions (AZF)
Institut National d'Hygiène
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis

Cyprus
NICOSIA
Analysis of known mutations for Inherited Nephronopathies due to ADPKD gene (16p.13.3)
The Cyprus Institute of Neurology and Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis

Cyprus
NICOSIA
Family linkage analysis for Inherited Nephronopathies due to ADPKD gene (16p.13.3)
The Cyprus Institute of Neurology and Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Cyprus
NICOSIA
Prenatal diagnosis via CVS 1,2 for Inherited Nephronopathies due to ADPKD gene (16p.13.3)
The Cyprus Institute of Neurology and Genetics
Purpose(s)
: Antenatal diagnosis
Specialty(ies)
: Molecular genetics, Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: Karyotyping

Cyprus
NICOSIA