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Diagnosis of pseudohypoparathyroidism (GNAS gene)
- SMeL Specializzato in Citogenetica e Genetica
- Dipartimento Laboratorio
- ASST Cremona
- Via Concordia 1
- 26100 CREMONA
- ITALY
- Director of laboratory : Dr Barbara RIBOLI
- More information
Last update: March 2023
Responsible of diagnostic test
Purpose(s)
Post-natal diagnosis
Newborn screening
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
Sequence analysis: entire coding region
NGS sequencing (except WES)
List of diseases and genes
List of diseases tested
(1)
List of genes tested (including panels)
(1)
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