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Diagnosis of genetic lipodystrophies [panel of genes]
Despite our efforts to ensure that data is up to date, this activity has not been validated since 12/11/2019- Dipartimento di Genetica Molecolare
- Centro di Genetica Molecolare
- Istituto Neurologico Mediterraneo - IRCCS Neuromed
- Localitŕ Camerelle
- 86077 POZZILLI (IS)
- ITALY
- Director of laboratory : Dr Stefano GAMBARDELLA
- More information
Last update: November 2019
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
Sequence analysis: entire coding region
NGS sequencing (except WES)
List of diseases and genes
List of diseases tested
(10)
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