Skip to
  1. Homepage
  2. Diagnostic tests
  3. Search a test
Simple search

Simple search

*
(*) mandatory field


 

17 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(13)
(5)
(2)
Technique(s)
(1)
(1)
Purpose(s)
(1)
(17)
Quality management
(7)
(15)
Country(ies)
(2)
(4)
(2)
(3)
(6)
RESET
Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Jeune syndrome (DYNC2H1, IFT172, IFT8, TTC21B, WDR19, WDR34, WDR60 genes)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of Jeune Syndrome (DYNC2H1 and IFT80 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Ciliopathy (multigene panel; 77 genes)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of Jeune syndrome (DYNC2H1, IFT80 and WDR19 genes: sequencing)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Jeune syndrome (IFT80, DYNC2H1, TTC21B, WDR19 genes)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of short rib-polydactyly syndrome (IFT80 and IFT140 genes)
    • Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MARTINSRIED
    • Accreditation
    • Molecular Diagnosis of Connective Tissue Disorder with Bone Involvement NGS Panel and Del/Dup Analysis (43 genes)
    • The Hospital for Sick Children and University of Toronto
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : NGS sequencing (except WES), Array based techniques
    • More information
    • CANADA
    • Ontario
    • TORONTO
    • Molecular diagnosis of Jeune syndrome (DYNC2H1, IFT80 genes)
    • Humangenetisches Institut am Universitätsklinikum Erlangen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • ERLANGEN
    • Molecular diagnosis of Jeune syndrome (IFT80 gene)
    • CIBIR - Centro de Investigación Biomédica de La Rioja
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • La Rioja
    • LOGROÑO
    • Molecular diagnosis of Jeune syndrome (IFT80, DYNC2H1, TTC21B genes)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Asphyxiating thoracic dystrophy (IFT80 gene: Sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Jeune syndrome - Asphyxiating thoracic dystrophy of the newborn type 3, 4 and 5 (DYNC2H1, TTC21B and WDR19 genes: sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Nephronophthisis-associated ciliopathy (INVS gene: sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular Diagnosis Nephronophthisis 1 (homozygous 250 kb deletion of NPHP1 by PCR)
    • Alberta Children's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : PCR based techniques
    • More information
    • CANADA
    • Alberta
    • CALGARY
    • Molecular diagnosis of Jeune disease (DYNC2H1, IFT80, TTC21B, WDR19 genes)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Jeune syndrome (DYNC2H1 and IFT80 genes)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Diagnosis of Jeune syndrome (DYNC2H1, IFT80, TTC21B, WDR19 genes)
    • Bioarray
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • ELCHE