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

Rennes University Hospital

Status: Completed

Conditions: Spina Bifida

Treatments: Genetic: characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.

Study type: Observational

Funder types: Other

Identifiers

NCT02854150

35RC14_9736

Details and patient eligibility

About

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.

Enrollment: 106 patients

Sex: All

Volunteers: No Healthy Volunteers

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