Autosomal Recessive Osteopetrosis (TCIRG1) Targeted Testing

AKA: Marble Bones; Albers-Schonberg Disease
Short Name: TCIRG1 Targeted

Autosomal recessive osteopetrosis is a life-threatening disease caused by subnormal osteoclast function. The disease usually manifests in the first few months of life. Macrocephaly and frontal bossing result in a characteristic facial appearance. Pathogenic variants in the TCIRG1 gene are responsible for more than one half of autosomal recessive osteopetrosis patients. A missense mutation, p.Gly410Arg, caused by c.1228G>A has been reported in patients with autosomal recessive osteopetrosis. This c.1228G>A variant has been found more frequently among Old Order Amish populations and is specifically analyzed with this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 259700
MedGen: 376708