Number of Panel Genes: 

Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterized by distinctive facial features, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. Typical facial features include arched eyebrows, synophrys, long eyelashes, short nose with anteverted nares, long philtrum, thin upper vermillion with downturned corners of the mouth, high palate with widely spaced or absent teeth.

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Tests Available

5 Panel Genes: HDAC8, NIPBL, RAD21, SMC1A, SMC3
Next Generation Sequencing
Test Code: 5181
Deletion / Duplication
Test Code: 5182
NGS/Del Dup Comprehensive
Test Code: 5183

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
Skeletal Dysplasias
CPT Codes: 
81479 x 5
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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