Oral-facial-digital syndrome testing (OFD1)
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000322591.3
- Last updated: 2023-07-18
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Orofaciodigital syndrome I
Offered by Genetic Services Laboratory
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Oral-facial-digital syndrome testing (OFD1)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Monitoring, Pre-symptomatic, Diagnosis, Mutation Confirmation, Risk Assessment, Screening
Click Indication tab for more information.
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 HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://dnatesting.uchicago.edu/submitting-sample
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- 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)
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.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
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- 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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