Majeed Syndrome

Majeed syndrome is an autosomal recessive disorder caused by mutations in the LPIN2 gene. Patients develop chronic recurrent multifocal osteomyelitis (CRMO) prior to two years of age that results in several episodes per month of high fever, severe pain, and soft tissue swelling. The CRMO often leads to delayed bone age, growth failure, and flexion contractures. Patients also have congenital dyserythropoietic anemia (CDO) leading to hypochromic, microcytic anemia with onset in the first year of life. Transient inflammatory dermatosis, often manifesting as Sweet syndrome, is also common. In the neonatal period, hepatomegaly, neutropenia, and cholestatic jaundice may occur, but these symptoms are typically transient.

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Recurrence risk
  • Carrier testing in at-risk family members
  • Prenatal diagnosis


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


81404x1, 81479x1
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**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


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