Number of Panel Genes: 

Blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized mainly by eye lid abnormalities, hypertelorism, dental anomalies, and cleft lip/palate, which is usually bilateral. Eye lid anomalies include ectropion of the lower eyelids, euryblepharon, lagophthalmia, and double rows of eyelashes. Dental anomalies include conical teeth and hypodontia. Additional findings may include hypothyroidism, imperforate anus, neural tube defect, syndactyly, and hypoplastic nails.

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Tests Available

2 Panel Genes: CDH1, CTNND1
Next Generation Sequencing
Test Code: 5346
Deletion / Duplication
Test Code: 5347
NGS/Del Dup Comprehensive
Test Code: 5348

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
CPT Codes: 
81406 x 1
81479 x 1
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: 2 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: 2 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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