1q21 Deletion/Duplication

Test Background

Deletions in this region have variable expressivity ranging from individuals with mild to moderate intellectual disability, microcephaly, neuropsychiatric disorders, cardiac abnormalities, and cataracts to individuals who are more mildly affected or unaffected. In some cases the deletion was inherited and in others it was de novo. Duplications in this region have variable expressivity ranging from individuals with mild to moderate intellectual disability, autism/autistic behaviors, macrocephaly or relative macrocephaly, cardiac abnormalities, cataracts, and mild dysmorphic features to individuals who are more mildly affected or unaffected. In some cases the deletion was inherited and in others it was de novo. MLPA is utilized to detect this deletion/duplication.

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.