CYP24A1 Sequencing

Test Background

CYP24A1 encodes 1, 25(OH)2-D-24-hydroxylase, a key enzyme of vitamin D metabolism. CYP24A1 deficiency due to bi-allelic mutations causes idiopathic infantile hypercalcemia (IIH), particularly in the setting of vitamin D supplementation. IIH is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, fever, nephrocalcinosis, and hypercalciuria. CYP24A1 deficiency has also been reported to cause nephrolithiasis (kidney stone) and nephrocalcinosis in children and adults, which is a frequent clinical condition in both general and patient populations. Heterozygous carriers of CYP24A1 mutations may have an increased risk of hypercalciuria. This laboratory performs sequencing of the CYP24A1 gene.



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.