Functional Tests to Resolve Unsolved Rare Diseases. Rares.

Summary

Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients. For the other part it is impossible to conclude due to the presence of variants of unknown significance (VOUS). Functional analysis are needed to bring strong argument to reclassify variants as pathogenic or benign. The main objective is to evaluate the diagnosis yield of this strategy.

Eligibility

Inclusion Criteria:

* Minor and adult patient.
* Registered for the social security system.
* Informed consent signed by patient or parent of a minor patient.
* Patient affected by one of the rare diseases studied (albinism, congenital heart defect, cystic fibrosis, neurodevelopmental disease)
* Patient bearing variants of unknown significance (VOUS)

Exclusion Criteria:

* Refusal to participate in research protocol.
* Patient under administrative supervision
* Pregnant or nursing women

Conditions8

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