Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81405
Test Code 
1248
Test Methods 
Sequencing
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Microcephaly-Capillary Malformation syndrome [MICCAP, OMIM#614261] is characterized by severe progressive
microcephaly, early-onset refractory epilepsy, profound developmental delay, and generalized capillary malformations. The
capillary malformations, sometimes referred to as port wine stains, are spread diffusely throughout the body. Other less
common features can include hypoplasia of the distal phalanges and of the fingers and toes, mild heart defects, and
dysmorphic facies [1,2].
Molecular Genetics
Mutations of the STAMBP [OMIM #606247] gene have been identified in patients with MIC-CAP. McDonnell et al., identified
six missense variants, two nonsense mutations, two translational frameshift mutations and three intronic mutations, in a total
of 10 patients with MIC-CAP [3]. STAMBP is involved with endosomal sorting and trafficking machinery and functions in the
regulation of sorting of endosomal sorting complexes required for transport (ESCRTs) machinery and ubiquitinated receptor
cargo [3].

Microcephaly-Capillary Malformation syndrome is characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and generalized capillary malformations. The capillary malformations, sometimes referred to as port wine stains, are spread diffusely throughout the body. Other less common features can include hypoplasia of the distal phalanges and of the fingers and toes, mild heart defects, and dysmorphic facies.

Mutations of the STAMBP gene have been identified in patients with MIC-CAP. McDonnell et al., identified six missense variants, two nonsense mutations, two translational frameshift mutations and three intronic mutations, in a total of 10 patients with MIC-CAP. STAMBP is involved with endosomal sorting and trafficking machinery and functions in the regulation of sorting of endosomal sorting complexes required for transport (ESCRTs) machinery and ubiquitinated receptor cargo.