Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing
This trial is active, not recruiting.
|Treatment||characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.|
|Sponsor||Rennes University Hospital|
|Start date||September 2015|
|End date||September 2017|
|Trial size||100 participants|
|Trial identifier||NCT02854150, 35RC14_9736|
The main objective is to improve genetic counseling in patients with Spina Bifida, by the characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.
absence or low frequency (<1%) in public databases (dbSNP, Hapmap, 1000Genome)
time frame: through study completion, an average of 1 year
Male or female participants of any age.
Inclusion Criteria: - Spina Bifida patients (without age restriction), attending the genetic consultation at the National Reference Centre for Spina Bifida. These patients gave their written agreement for studying genes which could be involved in Spina Bifida. Exclusion Criteria: - Patients who refused to give their authorization to perform the sequencing of genes involved in Spina Bifida on their DNA
|Official title||Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing|
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