Breakthrough DNA test could solve medical mysteries for families

NCT ID NCT07400913

Summary

This study is testing a new DNA analysis method called long-read sequencing to help diagnose rare genetic diseases. Researchers will use this advanced technology to examine DNA from 150 patients with unexplained intellectual disability or albinism who haven't received clear diagnoses from standard genetic tests. The goal is to find hidden genetic patterns that current tests miss, potentially giving families answers about their medical conditions.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Email: •••••@•••••

Locations

  • CHU Bordeaux - Hôpital Pellegrin

    Bordeaux, 33076, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.