4 weeks
CPT Code 
Test Code 
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Cultured Cells
Extracted DNA

Currarino syndrome is an autosomal dominant condition defined by a triad of findings including partial sacral agenesis, presacral mass, and anorectal malformation. Common presenting clinical findings include anterior meningocele, other presacral mass (e.g. teratorma, lipoma, cyst), chronic constipation in childhood, and renal/urinary tract and/or gynecologic issues.  In affected individuals, sacral agenesis typically involves sacral vertebrae S2-S5.  Variable expressivity and reduced penetrance has been reported in families with MNX1-related Currarino syndrome, though a proportion of reportedly asymptomatic individuals are noted to have visible sacral defects on X-ray. Heterozygous mutations in MNX1 (also known as HLXB9) have been identified in nearly all cases of familial Currarino syndrome and in ~30% of sporadic cases.