NPHP1 Sequencing

Test Background

The NPHP1 gene is associated with several different conditions including Joubert syndrome, familial juvenile nephronophthisis, and Senior-Loken syndrome 1, which are all inherited in an autosomal recessive manner. Features of Joubert syndrome include distinctive cerebellar and brainstem malformations, hypotonia, developmental delay, and either episodic hyperpnea or apnea or atypical eye movements or both. Of individuals with Joubert syndrome approximately 1-2% will have a deletion of the NPHP1 gene. Nephronophthisis is characterized by anemia, polyuria, polydipsia, isothenuria, and death in uremia. Both mutations and deletions of the NPHP1 gene have been reported to cause nephronophthisis. Feature of Senior-Loken syndrome include the nephronophthisis and Leber congenital amaurosis. It is caused by a homozygous deletion of the NPHP1 gene.

This laboratory performs only Sanger sequencing of this gene.

Disorder(s)

Joubert syndrome

Gene(s)

NPHP1

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

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