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Diagnosis of COL2A1 gene associated diseases
- Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
- Dipartimento Patologie Ortopediche-Traumatologiche Specialistiche
- Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
- Via di Barbiano 1/10
- 40136 BOLOGNA
- ITALY
- Director of laboratory : Dr Luca SANGIORGI
- More information
Last update: September 2020
Responsible of diagnostic test
Purpose(s)
Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis
Newborn screening
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
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques
List of diseases and genes
List of diseases tested
(10)
List of genes tested (including panels)
(1)
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