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GERMANY

Sachsen
WEIßWASSER

Accreditation
Molecular diagnosis of renal tubular acidosis with progressive sensorineural deafness (ATP6V1B1 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

GERMANY

Sachsen
WEIßWASSER

Accreditation
Molecular diagnosis of distal renal tubular acidosis (SLC4A1, ATP6V0A4 and ATP6V1B1 genes)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Renal Tubular Acidosis with Deafness (ATP6V0A4 and ATP6V1B1 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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Molecular diagnosis of Distal Renal Tubular Acidosis, autosomal dominant (mutation analysis of exons 14, 15 & 20 of SLC4A1 gene)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Molecular diagnosis of Distal renal tubular acidosis, autosomal recessive (ATP6V1B1 and ATP6V0A4 genes)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of distal renal tubular acidosis (SLC4A1 gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Autosomal Dominant Renal Tubular Acidosis (SLC4A1 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

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of distal renal tubular acidosis (ATP6V0A4, ATP6V1B1, SLC4A1 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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Molecular diagnosis of Autosomal recessive distal renal tubular acidosis with deafness (ATP6V1B1 gene)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of renal tubular acidosis with progressive sensorineural deafness (ATP6V1B1 gene)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of distal renal tubular acidosis (SLC4A1 gene)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of distal renal tubular acidosis (ATP6V1B1, SLC4A1 genes)
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), Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of distal renal tubular acidosis (ATP6V0A4, ATP6V1B1, SLC4A1, SLC4A4 genes) Molecular diagnosis of distal renal tubular acidosis (SLC4A1, ATP6V0A4 and ATP6V1B1 genes)
CeGaT GmbH
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

Accreditation
Diagnosis of tubulopathies (Panel)
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of distal renal tubular acidosis (SLC4A1, ATP6V0A4 and ATP6V1B1 genes)
Pränatalmedizin München
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

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Erythrocyte Membrane Disorders (gene panel; EMS00v16.1)
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)

ITALY

TOSCANA
FIRENZE

Postnatal molecular diagnosis of distal renal tubular acidosis (ATP6V1B1, ATP6V0A4, SLC4A1 genes)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

VENETO
COSTOZZA DI LONGARE

Molecular diagnosis of distal renal tubular acidosis (SLC4A1 gene)
B.I.R.D. Foundation
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of distal renal tubular acidosis (SLC4A1 gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Andalucía
MÁLAGA

Diagnosis of autosomal recessive distal renal tubular acidosis (ATP6V1B1 gene)
Genetaq
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

PORTUGAL

SUL
LISBOA

Molecular diagnosis of distal renal tubular acidosis (SLC4A1 gene)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of distal renal tubular acidosis (ATP6V0A4 and SLC4A1 genes / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal dominant distal renal tubular acidosis (SLC4A1 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of distal renal tubular acidosis (SLC4A1 gene / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
BARAKALDO

Molecular diagnosis of distal renal tubular acidosis (SLC4A1, ATP6V0A4 and ATP6V1B1 genes)
Hospital Universitario Cruces - Osakidetza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of autosomal recessive distal renal tubular acidosis (sequence analysis of the entire coding region of ATP6V1B1 gene)
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), Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of autosomal dominant distal renal tubular acidosis (SLC4A1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of autosomal recessive distal renal tubular acidosis (ATP6V0A4 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of constitutional hemolytic anemia (Panel)
CHU Henri Mondor
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
ESPLUGUES DE LLOBREGAT

Diagnosis of rare hemolytic anemia (gene panel)
BLOODGENETICS S.L
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of renal tubular acidosis with deafness (whole sequence of ATP6V1B1 gene)
Istanbul Universitesi, Tip Fakültesi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of distal renal tubular acidosis (SLC4A1, ATP6V1B1, ATP6V0A4 genes)
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

Asturias
OVIEDO

Diagnosis of distal renal tubular acidosis (gene panel)
Hospital Universitario Central de Asturias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of constitutional hemolytic anemia due to a red cell membrane anomaly (Panel)
CHU Paris - Hôpital Robert Debré
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