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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of acrodysostosis with or without multiple hormone resistance (PRKAR1A gene)
CeGaT GmbH
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 acrodysostosis with or without multiple hormone resistance (PDE4D and PRKAR1A genes: sequencing)
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of acrodysostosis with or without multiple hormone resistance (PRKAR1A gene)
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
TÜBINGEN

Accreditation
Molecular diagnosis of syndromic microphthalmia type 5 (PDE4D gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Devon
EXETER

Accreditation
Molecular diagnosis of Molecular diagnosis of Acrodysostosis With or Without Multiple Hormone Resistance by sequencing of the entire coding region (PDE4D gene) and sequencing of selected exons (PRKAR1A gene) With or Without Multiple Hormone Resistance by sequencing of the entire coding region (PDE4D gene) and sequencing of selected exons (PRKAR1A gene)
Royal Devon and Exeter Hospital - Wonford site
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region

ITALY

LIGURIA
GENOVA

Molecular diagnosis of brachydactyly type E (HOXD13 gene)
Ospedali Galliera
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of acrodysostosis with or without multiple hormone resistance (PDE4D and PRKAR1A genes: sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

BASSE-NORMANDIE
CAEN

Diagnosis of syndromes with brachydactyly (Panel)
CHU de Caen - Hôpital Clémenceau
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, Uniparental disomy study, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

ITALY

LOMBARDIA
MILANO

Postnatal molecular diagnosis of acrodysostosis (PRKAR1A and PDE4D genes)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing