Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81404
Test Code 
1283
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Disorders 
Genes 
Notes 
If sending saliva, 2 kits are required.

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).

To date no deletions or duplications involving the ESCO2 gene as causative of Roberts Syndrome have been reported.