Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth retardation, feeding difficulties, psychomotor delay, mild to severe intellectual diability,  behavioral problems, and upper limb anomalies. Not all individuals with CdLS exhibit the classic phenotype, and presentation of the disorder can vary widely, from mild to severe and with different degrees of facial and limb involvement. CdLS can be inherited in an autosomal dominant or X-linked manner. However, most cases result from de novo pathogenic variants and occur in people with no family history of the condition. Several conditions have considerable overlap with CdLS, including Coffin-Siris syndrome, Rubinstein Taybi syndrome, Robinow syndrome, and Roberts syndrome. Our Cornelia de Lange panel offers sequencing and deletion/duplication analysis of all genes associated with CdLS and other related disorders. 

Institutional Price 
$3,000.00
TAT 
6 weeks
CPT Code 
81443
Test Code 
1192
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA