Search for a diagnostic test
Diagnosis of pseudohypoparathyroidism (GNAS gene)
Despite our efforts to ensure that data is up to date, this activity has not been validated since 13/11/2018- Grupo de investigación en genética y control de diabetes y enfermedades endocrinas
- Instituto de Investigación sanitaria Biocruces Bizkaia
- Hospital Universitario Cruces, Plaza de Cruces s/n
- 48903 BARAKALDO
- SPAIN
- Director of laboratory : Dr Luis CASTAÑO GONZÁLEZ
- More information
- Phone : 34 94 600 6000
- Additional Phone : -
- Fax : -
- Website
Last update: November 2018
Responsible of diagnostic test
Purpose(s)
Antenatal diagnosis
Post-natal diagnosis
Technical procedure(s)
Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
Uniparental disomy study
Microsatellite analysis
Methylation analysis
MLPA based techniques
Deletion / Duplication analysis
MLPA based techniques
List of diseases and genes
List of diseases tested
(1)
List of genes tested (including panels)
(1)
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