Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing

Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing

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.

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