Orofaciodigital syndrome I (OFD1; MIM 311200) is an X-linked dominant disease with lethality in males. It is characterized by facial, oral cavity and digit malformations. Typical facial and oral cavity findings include hypertelorism, broad nasal bridge, hypoplastic malar cartilage, small median cleft or pseudocleft of the upper lip, hyperplastic oral frenuli, cleft palate, bifid or lobulated tongue, lingual hamartomas, and hypodontia.read more

Tests Available

By gene: OFD1
Next Generation Sequencing
Test Code: 2280
Deletion / Duplication
Test Code: 2281
NGS/Del Dup Comprehensive
Test Code: 2282

Test Details

Technical Information
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Kidney Disorders
CPT Codes: 
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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