Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81407
Test Code 
1186
Test Methods 
Sequencing
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Genes 
Notes 
Our NIPBL sequencing assay is validated to detect mosaic variants present at levels of 10% or higher. We recommend testing on buccal samples to enhance detection of mosaic variants.

Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have characteristic facial features, growth retardation, hirsutism, and upper limb reduction defects. More than 95% of patients with CdLS have limb involvement, but only 25% have severe limb anomalies. Characteristic facial features include synophrys, long eyelashes, depressed nasal bridge with an uptilted nasal tip and anteverted nares, thin upper lip with downturned corners of the mouth, and posteriorly rotated low-set ears. Most individuals have severe to profound mental retardation, but more mild cognitive delays have been reported. Mutations of the NIPBL [OMIM #608667] gene have been identified in patients with CdLS. Gillis, et al. [4] detected NIPBL mutations in 56 of 120 (47%) patients with characteristic facial features of CdLS.

Contact the Cornelia de Lange Syndrome Foundation (www.cdlsusa.org) for more information and support.