Search for a diagnostic test
Diagnosis of Marfan syndrome and related diseases (NGS screening panel, 12 genes)
Despite our efforts to ensure that data is up to date, this activity has not been validated since 15/08/2018- Abteilung Molekulargenetik
- Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ) Dr. Klein, Dr. Rost und Kollegen
- MVZ Martinsried GmbH
- Lochhamer Str. 29
- 82152 MARTINSRIED/PLANEGG
- GERMANY
- Director of laboratory : Dr Imma ROST
- More information
Last update: August 2018
Responsible of diagnostic test
Purpose(s)
Post-natal diagnosis
Technical procedure(s)
Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
NGS sequencing (except WES)
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)
List of diseases and genes
List of diseases tested
(11)
Additional information
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.