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Genetic and Rare Diseases Information Center (GARD)

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Orofaciodigital syndrome 1

Other Names for this Disease
  • OFD syndrome 1
  • OFD1
  • OFDS 1
  • Oral facial digital syndrome 1
  • Oral facial digital syndrome type 1
More Names
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Tests & Diagnosis

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Is genetic testing available for orofaciodigital syndrome 1 (OFD1)?

Genetic testing for orofaciodigital syndrome 1 is clinically available. OFD1  is the only gene currently known to be associated with this condition. Testing is often used to confirm or establish the diagnosis in an individual when OFD1 is suspected.  A change (mutation) in the OFD1 gene is detected in up to 85% of individuals who have OFD1.[1] 

You can find laboratories offering clinical genetic testing for OFD1 on a website called GeneTests. To see a listing of clinical testing laboratories click here. GeneTests does not currently list laboratories doing research testing for OFD1. 

Last updated: 11/15/2010

  1. Helga V Toriello, Brunella Franco. Oral-Facial-Digital Syndrome Type 1. GeneReviews. October 14, 2010; Accessed 11/10/2010.