Cost 
$960.00
TAT 
4 weeks
CPT Code 
81405
Test Code 
1226
Test Methods 
Sequencing
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA

Sotos syndrome 2 [MIM# 614753] was initially described by Malan et al, (2010), as an overgrowth syndrome that showed resemblance to Sotos syndrome and is also referred to as Sotos-like syndrome. Features include postnatal overgrowth, macrocephaly, advanced bone age, long narrow face, high forehead, slender habitus, scoliosis, and intellectual disability.

Marshall-Smith syndrome [MIM#602535] is characterized by accelerated skeletal maturation, relative failure to thrive, unusual facies, motor delay, and intellectual disability. The facial features include prominent eyes with shallow orbits, bluish sclerae, small anteverted nares with low nasal bridge and hypoplastic mandibular rami.

Mutations of the NFIX [OMIM #164005] gene have been identified in patients with Sotos-like syndrome and Marshall-Smith syndrome