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. teratoma, 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 have 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 pathogenic variants in MNX1  have been identified in nearly all cases of familial Currarino syndrome and in ~30% of sporadic cases.

TAT 
4 weeks
CPT Code 
81479
Test Code 
2175
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Genes 
Additional Information 
Please note that we are unable to sequence c.264-450 in exon 1 of MNX1 for technical reasons.