Orofaciodigital syndrome 1

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.

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 on 05-01-20

Does Medicaid cover genetic testing?

The Federal Government determines which benefits must be provided to Medicaid recipients, and each state can decide whether to cover additional benefits. With the exception of newborn screening, each state has the option to cover genetic tests and services as a Medicaid benefit. As a result, each state differs with regard to its Medicaid coverage for genetic tests and services. There has been limited data on how each state provides Medicaid coverage for genetic tests and services.

Medicaid may cover the cost of certain genetic testing, provided that certain criteria are met. Each individual should speak with their personal healthcare provider and/or their health plan administrator to find out if a specific test is covered or how to obtain coverage.

Last updated on 05-01-20

What is orofaciodigital syndrome 1 (OFD1)?

Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 __ which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys. The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes). Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease.

Last updated on 05-01-20

Name: About Face International 51 Wolseley Street Toronto, ON M5T 1A4
Canada
Phone: +1-416-597-2229 Toll Free: 1-800-665-3223 Fax : +1-416-597-8494 Email: info@aboutface.ca Url: https://www.aboutface.ca/
Name: FACES: The National Craniofacial Association PO Box 11082
Chattanooga, TN, 37401, United States
Phone: 423-266-1632 Toll Free: 800-332-2373 Email: faces@faces-cranio.org Url: http://www.faces-cranio.org/
Name: Let's Face It University of Michigan School of Dentistry Dentistry Library 1011 North University
Ann Arbor, MI, 48109-1078, United States
Email: faceit@umich.edu Url: http://media.dent.umich.edu/faceit/info/ This website does not appear to be actively updated any longer. However the information and resources may be helpful.
Name: Children's Craniofacial Association 13140 Coit Road Suite 517
Dallas, TX, 75240 , United States
Phone: +1-214-570-9099 Toll Free: 1-800-535-3643 Fax : +1-214-570-8811 Email: contactCCA@ccakids.com Url: https://ccakids.org/
Name: Ameriface PO Box 751112
Las Vegas, NV, 89136, United States
Phone: 702-769-9264 Toll Free: 888-486-1209 Email: info@ameriface.org Url: http://www.ameriface.org
Name: ACPA Family Services 1504 East Franklin Street, Suite 102
Chapel Hill, NC, 27514-2820, United States
Phone: +1-919-933-9044 Fax : +1-919-933-9604 Email: info@acpa-cpf.org Url: https://cleftline.org/

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