FLNA Sequencing

Test Background

X-linked periventricular heterotopia (also called periventricular nodular heterotopia or PNH) is caused by point mutations or deletions affecting the FLNA gene with presumed loss of function. About 80% of individuals with X-linked periventricular heterotopia have a detectable mutation in the FLNA gene. Most cases of X-linked periventricular heterotopia are caused by point mutations. MLPA analysis of select exons (4, 11, 22, 25, 29, 39, and 46) is also performed.

In addition, FLNA mutations with presumed gain of function are reported in association with four other disorders (Frontometaphyseal dysplasia, Melnick-Needles syndrome, Oto-palato-digital syndrome type I, and Oto-palato-digital syndrome type II). There is overlap of the various findings with these conditions. However, the main features are skeletal findings such as craniofacial abnormalities, scoliosis, and digit abnormalities as well as deafness and genitourinary findings.



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.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.

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