Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81405
Test Code 
1282
Test Methods 
Sequencing
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Disorders 
Genes 

Roberts syndrome (RBS) [OMIM #268300], also known as Roberts-SC phocomelia syndrome [OMIM #269000], is characterized by pre- and postnatal growth retardation, mental retardation, limb (tetraphocomelia or hypomelia) and hand malformations (oligodactyly, syndactyly, or clinodactyly), and craniofacial abnormalities (lip/palate clefting, micrognathia, hypertelorism, exophtalmos, down-slanting palpebral fissures, and ear malformations). At the cytogenetic level, RBS cells exhibit premature separation of centromeres (PCS) and ‘puffing’ of other heterochromatic regions, resulting in a railroad track appearance of most chromosomes. PCS has been linked to mutations in ESCO2 (establishment of cohesion 1 homolog 2).