CYP24A1 Sequencing

CYP24A1 encodes 1, 25(OH)2D-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.

Forms & Docs

Ordering

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Test Code
S0011

Turn-around time
2-3 weeks

Billing

CPT Code
81479×1

Ordering Guidance

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
CYP24A1

Methods
Sanger

References
OMIM 143880
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Fenci F et al, Eur J PEdiatri. 2013 Jan;172(1):45-9 PMID 23001465
Nguyen M et al, J PEdiatr. 2010 Aug;157(2):296-302 PMID: 20394945
McTaggart SJ et al, Pediatr Nephrol 1999 Oct;13(8):668-71. PMID 10502124
Nesterova G et al, Clin J Am Soc Nephrol. 2013 Apr;8(4):649-57. PMID 23293122
Dinour D et al, J Urol. 2013 Aug;190(2):552-7. PMID: 23470222