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GTR Home > Tests > Oral-facial-digital syndrome testing (OFD1)


Test name


Oral-facial-digital syndrome testing (OFD1)

Purpose of the test


This is a clinical test intended for Help: Monitoring, Pre-symptomatic, Diagnosis, Mutation Confirmation, Risk Assessment, Screening



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How to order


All samples should be shipped via overnight delivery at room temperature. No weekend or holiday deliveries. Label each specimen with the patient’s name, date of birth and date sample collected. Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Fetal blood
Product of conception (POC)
Chorionic villi
Peripheral (whole) blood
Isolated DNA
Amniotic fluid
Cell culture
Frozen tissue
Cord blood
Buccal swab


Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Clinical utility


Not provided

Clinical validity


Mutations of the OFD1 [OMIM #300170] gene have been identified in patients with OFD1, SGBS2, and XLJS]. • Prattichizzo, et al. (2008) detected OFD1 mutations in 81 of 100 (81%) patients with characteristic facial features of OFD1. Recently, intragenic deletions of one or more exons of OFD1 have been reported in approximately 5% of patients with a clinical diagnosis of OFD1. • Budny, et al. (2006) described one family with SGBS2 males and unaffected females with a truncating mutation in OFD1. Another family with SGBS2 was mapped to the region surrounding OFD1. • Coene, et al. (2009) described one family and an isolated male with JS and two different truncating mutations in OFD1. OFD1 has 23 coding exons. Nonsense, missense, frameshift and splicing mutations have been identified in the OFD1 gene. There are no clear genotype-phenotype correlations to date with regards to OFD1 mutations and the three different disorders.

  • 1. Toriello HV, Franco B. (Updated 14 Oct 2010). Oral-Facial-Digital Syndrome Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource. Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genetests.org. Accessed 27 Jan 2011. 2. Budny B, et al. “A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome”. (2006) Hum Genet 120: 171-178. 3. Terespolsky D, et al. “Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis”. (1995) Am J Med Genet 59: 329-333. 4. Coene KLM, et al. “OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin”. (2009) Am J Hum Genet 85: 465-481. 5. Ferrante MI, et al. “Identification of the Gene for Oral-Facial-Digital Type 1 Syndrome”. (2001) Am J Hum Genet 68:569-76. 6. Prattichizzo C, et al. “Mutational spectrum of the oral-facial-digital type 1

Test services

  • Confirmation of research findings
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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