FMR1 CGG Repeat Analysis and Methylation Analysis

Test Background

Fragile X syndrome is characterized almost always by moderate intellectual disability in males and mild intellectual disability in females as well as characteristic facial features, joint laxity, and behavioral problems. This laboratory uses the technology of Asuragen PCR, which is more sensitive and accurate than Southern blot. It is capable of detecting a range of variations including normal alleles and permutations that start with ~55 repeats, up to full mutations of more than 1,000 CGG repeats. Samples found to be potentially abnormal are retested with methylation PCR to confirm repeat length and also to determine methylation status of the repeat region.

Disorder(s)

Fragile X Syndrome

Gene(s): 

FMR1

Lab Method

Asuragen PCR

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.