NF1 Deletion/Duplication

Test Background

Features of neurofibromatosis 1 (NF1) include multiple cafe au lait spots, axillary and inguinal freckling, multiple discrete dermal neurofibromas, iris Lisch nodules. Most cases of NF1 are caused by point mutations. Deletions account for approximately 5% of cases. Only deletion analysis by MLPA is performed by this laboratory.

Gene(s)

NF1

Lab Method

MLPA

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.