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Molecular diagnosis of pseudohypoparathyroidism Type 1 A (GNAS gene: Sequencing of the entire coding region of gene (s) / Testing for known mutations in family members)
Despite our efforts to ensure that data is up to date, this activity has not been validated since 21/05/2014- NE Thames Regional Genetics Service
- Level 5 & 6
- Great Ormond Street Hospital for Children, York House
- 37 Queen Square
- LONDON WC1N 3BH
- UNITED KINGDOM
- Director of laboratory : Ms Lucy JENKINS
- More information
Last update: May 2014
Responsible of diagnostic test
Purpose(s)
Post-natal diagnosis
Technical procedure(s)
Molecular genetics
Targeted mutation analysis
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Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
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List of diseases and genes
List of diseases tested
(1)
List of genes tested (including panels)
(1)
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