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

By gene: NIPBL
Next Generation Sequencing
$990
Test Code: 2424
Deletion / Duplication
$680
Test Code: 2425
NGS/Del Dup Comprehensive
$1,570
Test Code: 2426

Test Details

Technical Information
Genes: 
NIPBL
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
Skeletal Dysplasias
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
2424
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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