Melnick-Needles Syndrome Select Exon Analysis

Test Background

Melnick-Needles syndrome (MNS) is caused by one of three missense mutations in exon 22 of the FLNA gene. 100% of individuals with MNS have one of these three mutations in exon 22 of the FLNA gene. MNS is characterized by skeletal dysplasia with short stature, thoracic hypoplasia, limb bowing, joint subluxation, scoliosis, and digits of the hands and feet that are typically long with mild distal phalangeal hypoplasia. Other features include characteristic facial features, oligohypodontia, sensorineural and/or conductive hearing loss, and hydronephrosis secondary to ureteric obstruction. This laboratory performs targeted mutation analysis for the three mutations in exon 22 of the FLNA gene.

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.