Arthrogryposis is a common disorder characterized by the development of non-progressive congenital contractures that may affects multiple parts of the body. Multiple congenital joint contractures are geenrally classified into amyoplasia, distal arthrogryposis, and syndromic. Distal arthrogryposis, affects the distal parts of the limbs, and it can occur in the absence of any primary neurological disorder, or muscular disorder. Most symptoms involve contractures affecting two or more areas of the body with least involvement of the proximal joints. Features shared among all distal arthrogryposes include a consistent pattern of hand and foot involvement, limited involvement of proximal joints, and variable expressivity. The panel includes sequence and deletion/duplication analysis of all the listed genes.  

 

TAT 
6 weeks
CPT Code 
81479
Test Code 
1198
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Additional Information 
Any gene in the Distal Arthrogryposis Panel can also be ordered individually. Please contact us directly for cost and CPT code information.