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

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational

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

Brief Summary: 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.

Detailed Summary:
Sponsor: Rennes University Hospital

Current Primary Outcome: absence or low frequency (<1%) in public databases (dbSNP, Hapmap, 1000Genome) [ Time Frame: through study completion, an average of 1 year ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Rennes University Hospital

Dates:
Date Received: July 26, 2016
Date Started: September 2015
Date Completion:
Last Updated: August 2, 2016
Last Verified: July 2016