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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation
Phenotyping and genotyping of alpha-1 antitrypsin deficiency (study on coding regions of SERPINA1 gene)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Niedersachsen
GÖTTINGEN

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency
Institut für Humangenetik der Universität Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
MÖNCHENGLADBACH

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Medizinische Versorgungszentrum Dr.Stein + Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

BELGIUM

LIEGE
LIEGE

Accreditation
Molecular diagnosis of Alpha-1-Antitrypsin Deficiency (SERPINA1 gene)
CHU de LIEGE - UniLab Lg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Schleswig-Holstein
KIEL

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Romande
SION

Accreditation
Molecular diagnosis of alpha - 1 antitrypsin deficiency (SERPINA 1 gene: S and Z alleles)
Institut Central des Hôpitaux (ICH)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Lanarkshire
GLASGOW

Accreditation
Molecular diagnosis of Alpha-1 antitrypsin deficiency (SERPINA1 gene)
Southern General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Alpha-1 Antitrypsin Deficiency (SERPINA1 gene: PI*Z and PI*S mutations by ARMS PCR)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : PCR based techniques

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of susceptibility to alpha-1 antitrypsine deficiency (SERPINA1 gene : Z, M and S alleles)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Alpha-1 antitrypsin deficiency (Serpina1 gene, 14q32.1: 2 common mutations S&Z)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of alpha-1 antitrypsine deficiency (SERPINA1 gene: sequencing)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency
Praxisgemeinschaft für Laboratoriumsmedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency
Paxis und Labor Dr. med Karl Mehnert
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Diagnostic moléculaire du déficit en alpha-1-antitrypsine (géne SERPINA1)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
ALLSCHWIL

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency
Viollier AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Institut für Medizinische & Molekulare Diagnostik AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Alpha-1 Antitrypsin Deficiency (SERPINA1 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ESTONIA

Tartu
TARTU

Accreditation
Molecular screening of frequent diseases in Ashkenazi Jewish populations (APEX: ABCC8, AGL, ASPA, BCKDHB, BLM, CFTR, CLRN1, DLD, F11, FANCC, G6PC, GBA, GJB2, HEXA, IKBKAP, LDLR, MCOLN1, MEFV, NEB, PCDH15, SERPINA1, SMPD1, TMEM216 and TOR1A genes)
Asper Biotech Ltd.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FINLAND

Finland
HELSINKI

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene: S and Z mutations)
Yhtyneet Medix Laboratoriot
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
LEIPZIG

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency
MVZ Labor Dr. Reising-Ackermann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Alpha1-antitrypsine deficiency (SERPINA1 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Molecular diagnosis of alpha - 1 antitrypsin deficiency (SERPINA1 gene)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Asturias
OVIEDO

Accreditation
Diagnosis of alpha-1-antitrypsin deficiency (SERPINA1 gene)
Hospital Universitario Central de Asturias
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
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis in case of Unexplained Metabolic Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Whole Exome Sequencing (WES)

SPAIN

Castilla - León
SALAMANCA

Accreditation
Diagnosis of Alpha-1 antitrypsin deficiency (SERPINA1 gene)
Complejo Asistencial Universitario de Salamanca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

AUSTRIA

STEIERMARK
GRAZ

Accreditation
Molecular diagnosis of Alpha-1 antitrypsin deficiency (SERPINA1 gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
HANNOVER

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
amedes genetics im MVZ wagnerstibbe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

BELGIUM

LIEGE
LIEGE

Accreditation
Neonatal screening: Biochemical diagnosis of Alpha1-Antitryspin Deficiency (Alpha-1 Antitrypsin: ELISA, bloodspots)
CHU Sart Tilman - Liège
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Alpha-1 Antitrypsine Phenotyping (Alpha-1 Antitrypsine by IEF: serum)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

CANADA

Ontario
MISSISSAUGA

Accreditation
Molecular Diagnosis of Alpha-1 Antitrypsin Deficiency
Trillium Health Partners- Credit Valley Site
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular diagnosis of alpha - 1 antitrypsin deficiency (SERPINA 1 gene: S and Z alleles)
Unilabs Lausanne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

ITALY

VENETO
PADOVA

Accreditation
Molecular diagnosis of alpha-1-antitrypsin deficiency (A1AT gene)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene: sequencing)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of alpha-1-antitrypsin deficiency (SERPINA1 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Heterozygote screening by NGS Inherited Disease Panel (Kingsmore)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
BOULOGNE-BILLANCOURT

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
CHU Paris IdF Ouest - Hôpital Ambroise Paré
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
Technical procedure(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Alpha-1-antitrypsin deficiency (SERPINA1 gene)
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : Sanger sequencing, PCR based techniques

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Accreditation
Diagnosis of Alpha-1-antitrypsin deficiency (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

FRANCE

RHONE-ALPES
LYON

Accreditation
Diagnosis of Alpha-1-antitrypsin deficiency (SERPINA1 gene : S and Z mutations)
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

GERMANY

Nordrhein-Westfalen
BAD OEYNHAUSEN

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Nottinghamshire
NOTTINGHAM

Accreditation
Molecular diagnosis of Alpha-1 Antitrypsin deficiency (SERPINA1 gene)
Queen's Medical Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
BAD STEBEN

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
SINGEN /HTWL.

Accreditation
Molecular diagnosis of alpha-1 antitrypsin deficiency
Institut für Laboratoriumsmedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation
Molecular diagnosis of susceptibility to alpha-1 antitrypsine deficiency (SERPINA1 gene : Z, M and S alleles)
Zentrallabor des Universitätsklinikums Heidelberg
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Hampshire
SOUTHAMPTON

Accreditation
Biochemical diagnosis of Alpha-1 Antitrypsin Deficiency
Southampton General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Alpha-1 Antitrypsin Deficiency (SERPINA1 gene)
The Doctors Laboratory Ltd
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

AQUITAINE
BORDEAUX

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene: entire coding sequence)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing, PCR based techniques

ITALY

LAZIO
ROMA

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of alpha-1-antitrypsin deficiency (SERPINA1 gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Aragón
ZARAGOZA

Molecular diagnosis of alpha-1 antitrypsin deficiency
Centro de Análisis Genéticos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
CHUS - Complejo Hospitalario Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
REGENSBURG

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Gemeinschaftspraxis Dr. Susanne Ebner und Dr. Susanne Markus
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Andalucía
SEVILLA

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene / mutations Glu264Val (allele PiS) and Glu342Lys (allele PiZ))
Hospital Universitario Virgen del Rocío
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Berlin
BERLIN

Molecular diagnosis of alpha-1 antitrypsin deficiency
Berlin-Potsdam MVZ GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of alpha-1 antitrypsin deficiency
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

DENMARK

Hovedstaden
COPENHAGEN

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MADRID

Diagnosis of alpha-1 antitrypsin deficiency (S and Z genotypes, SERPINA1 gene)
Hospital Materno Infantil Gregorio Marañón
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ITALY

LOMBARDIA
MONZA

Molecular diagnosis of alpha-1-antitrypsin deficiency (AAT gene)
Consorzio per la Genetica Molecolare Umana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
COSTOZZA DI LONGARE

Molecular diagnosis of alpha-1-antitrypsin deficiency (SERPINA1 gene)
B.I.R.D. Foundation
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

DENMARK

Syddanmark
VEJLE

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene: PIZ and PIS alleles)
Sygehus Lillebaelt Vejle Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MADRID

Diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
bio.logis Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Pränatalzentrum Hamburg und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Andalucía
MÁLAGA

Diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Genetiks - Genetic diagnosis and research center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
BARAKALDO

Molecular diagnosis of Alpha-1 antitrypsin deficiency. SERPINA1 gene, alleles: M, Z and S.
Hospital Universitario Cruces - Osakidetza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSAW

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene: analysis of exons 2-5)
NZOZ GENOMED
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Alpha-1 antitrypsin deficiency (SERPINA1 gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Poznan
POZNAN

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene: analysis of coding regions)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene / mutations E264V and E342K)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

IRELAND

County Dublin
DUBLIN

Biochemical and molecular diagnosis of Alpha-1 antitrypsin deficiency (by nephelometry, phenotype analysis by isoelectric focusing, and genotype analysis by PCR and sequencing of SERPINA1 gene)
Beaumont Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Analyte / Enzyme assay, Protein expression
Technical procedure(s) : NGS sequencing (except WES), Western Blot

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Centro de Diagnóstico Biomédico - CDB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of alpha-1 antitrypsin deficiency (polymorphism in SERPINA1 gene)
Hospital Universitario Donostia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

SUL
LISBOA

Molecular diagnosis of alpha1-antitrypsine deficiency (SERPINA1 gene): sequencing of the entire coding region.
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Baden-Württemberg
ULM

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
MVZ Humangenetik Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Madrid
MADRID

Diagnosis of alpha-1 antitrypsin deficiency
Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : PCR based techniques

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene: hotspot)
Praxis für Humangenetik und Prävention
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene: hotspot)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene: targated mutation analysis M, Z, S)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Castilla - León
VALLADOLID

Diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene / E342K, E264V mutations)
Hospital Universitario Río Hortega
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

UNITED KINGDOM

Greater Manchester
MANCHESTER

Molecular diagnosis of Alpha-1 antitrypsin deficiency (AAT gene)
Elucigene Diagnostics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

La Rioja
LOGROÑO

Diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : Sanger sequencing

POLAND

Warszawa
WARSAW

Badanie molekularne w kierunku niedoboru alfa-1 antytrypsyny (gen SERPINA1: badanie eksonow 2-5)
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : PCR based techniques

PORTUGAL

CENTRO
OEIRAS

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene: targeted mutation Z and S)
Laboratório de Análises Clínicas Dr. Joaquim Chaves
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

PORTUGAL

ILHAS
FUNCHAL

Molecular diagnosis of Alpha 1-antitrypsin deficiency (SERPINA 1 gene: pontual mutation analysis on exon 3 and 5 by RFLP)
Universidade da Madeira
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of alpha-1-antitrypsin deficiency (SERPINA1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of inherited disorders of cholestasis (Panel)
CHRU 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
Technical procedure(s) : NGS sequencing (except WES)

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Azienda Ospedaliera "San Paolo" - Università degli Studi di Milano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Labor für molekulare Genetik und metabolische Erkrankungen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Canarias
LAS PALMAS DE GRAN CANARIA

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene). Z and S alleles.
Complejo Hospitalario Universitario Insular-Materno Infantil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
BRESCIA

Molecular diagnosis of alpha-1 antitripsyn deficiency (SERPINA1 gene)
Università degli Studi di Brescia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

OBERÖSTERREICH
LINZ

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Ordensklinikum Linz - Elisabethinen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

ITALY

LOMBARDIA
PAVIA

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Fondazione IRCCS Policlinico San Matteo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ITALY

SICILIA
PALERMO

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA gene)
Azienda Ospedaliera Ospedali Riuniti "Villa Sofia-Cervello" - Presidio Cervello
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
GRANADA

Molecular Diagnosis of Alpha-1 antitrypsin deficiency
Hospital Universitario Virgen de las Nieves
Purpose(s) : Post-natal diagnosis

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Albrecht-Kossel-Institute for Neuroregeneration (AKos)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

CZECH REPUBLIC

South Moravia
BRNO

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
University hospital Brno
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BULGARIA

 South-West region
SOFIA

Molecular diagnosis of alpha-1-antitrypsin deficiency (Z allele of SERPINA1 gene)
University hospital of Obstetrics and Gynecology
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Lothian
EDINBURGH

Molecular diagnosis of Alpha-1 Antitrypsin Deficiency (SERPINA1 gene)
Western General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

TURKEY

TURKEY
SÝVAS

Molecular diagnosis of alpha-1 antitrypsin deficiency
Cumhuriyet Üniversitesi Týp Fakültesi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CROATIA

CROATIA
ZAGREB

Molecular diagnosis of Alpha-1 antitrypsin Deficiency
Zagreb Clinical Hospital Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SERBIA

Serbia
BELGRADE

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Institute of Molecular Genetics and Genetic Engineering
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HAIFA

Molecular diagnosis of Alpha-1 antitrypsin deficiency (P1, Mutation analysis, Carrier screening)
Carmel Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
REHOVOT

Molecular diagnosis of Alpha 1 antitrypsin deficiency (SERPINA1, Mutation analysis, Carrier screening)
Kaplan Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HAIFA

Molecular diagnosis of Alpha 1 antitrypsin deficiency (SERPINA1, Mutation analysis, Carrier detection)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
RAMAT GAN

Molecular diagnosis of Alpha 1 antitrypsin deficiency (SERPINA1, Mutation analysis, carrier detection, PGD)
Sheba Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of Alpha-1-Antitrypsin Deficiency (PI, Mutation analysis, Carrier detection)
Rabin Medical Center - Beilinson Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVENIA

SLOVENIA
GOLNIK

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene: detection of PI*S and PI*Z alleles)
University Clinic of Respiratory and Allergic Diseases
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
SEVILLA

Diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Hospital Universitario Virgen Macarena
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Medgene s.r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

RHONE-ALPES
LYON

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene sequencing; HRM analysis)
CHU de Lyon HCL - GH Edouard Herriot
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SLOVENIA

SLOVENIA
MARIBOR

Molecular diagnosis of alpha-1 antitrypsin deficiency
Maribor general hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene, entire coding sequence / E264V and E342K mutations)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
VALENCIA

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
INCLIVA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hessen
MARBURG

Molecular and biochemical diagnosis of alpha-1 antitrypsin deficiency and SERPIN1A gene
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Madrid
MAJADAHONDA

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Genyca Innova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
CÁDIZ

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene)
Hospital Universitario Puerta del Mar
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

LATVIA

LATVIA
RIGA

Molecular diagnosis of alpha-1 antitrypsin deficiency (SERPINA1 gene: PIZ and PIS mutations)
Riga Stradins University
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

STEIERMARK
GRAZ

Molecular diagnosis of alpha-1-antitrypsin deficiency (SERPINA1 gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Postnatal molecular diagnosis of alpha-1 antitrypsin deficiency (immunohistochemistry and sequence analysis of selected exons of SERPINA1 gene)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

AUSTRIA

TIROL
INNSBRUCK

Molecular diagnosis of Alpha-1-antitrypsin deficiency (Z- and/or S-allele of the SERPINA1 gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : Sanger sequencing

FRANCE

LORRAINE
VANDOEUVRE-LÈS-NANCY

Diagnosis of hepatic diseases (Panel)
CHU de Nancy - Hôpital de Brabois
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
Technical procedure(s) : NGS sequencing (except WES)