Otopalatodigital Syndrome Select Exons Sequencing


Otopalatodigital Syndrome Select Exons Sequencing

Test Background

FLNA mutations with presumed gain of function are reported in association with four 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. This laboratory performs Sanger sequencing of the entire gene, targeted sequencing of exons 3-5 or exon 22, and deletion/duplication of select exons (4, 11, 22, 25, 29, 39, and 46) by MLPA of the FLNA gene. Otopalatodigital syndrome testing involves sequencing of exons 3-5 only.

Disorder(s)

Frontometaphyseal dysplasia

Gene(s)

FLNA

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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