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Cystic Fibrosis Foundation Mutation Analysis Program
The Mutation Analysis Program provides free genetic testing to people with cystic fibrosis to help identify their CF gene mutations.
The Mutation Analysis Program (MAP), funded by the Cystic Fibrosis Foundation and administered by The Johns Hopkins DNA Diagnostic Laboratory (JHDDL), is a free and confidential genetic testing program for people with a confirmed diagnosis of cystic fibrosis. The program provides genetic testing to people who have not yet been tested to determine their CF mutations, or who have been tested previously but still have one or more unknown mutations.
Genetic testing can be used to tell if a person carries a mutation of the CFTR gene. The test looks at a person's DNA (genetic material), which can be taken from cells in a blood sample or saliva sample. The MAP only uses blood and saliva samples for its genetic testing program.
By knowing their CF mutations, your patients can make informed decisions with you -- their health care provider -- about the most appropriate treatment options for them.
For providers, please contact JHDDL for screening and to obtain the enrollment form (Spanish translated enrollment form). Completed forms may be faxed to 410-367-3266. Once your patient is enrolled, a sample can be submitted for testing. If you and your patient elect to submit a saliva sample, a collection kit will be shipped to the patient. If you choose to submit a blood sample, specimens may be shipped to:Johns Hopkins Genomics - DDL
1812 Ashland Ave.
Sample Intake Room 245
Baltimore, MD 21205
Frequently Asked Questions on Enrolling in the Mutation Analysis Program
What are the eligibility requirements for participating in the MAP?
Who covers the cost of the genetic testing?
Where can my CF patient get a blood sample taken?
What types of testing are offered?
Can a person participate in this program more than once?
Will the patient's name and test results be released to the public?
When can providers expect test results?
Individuals must have a suspected diagnosis of CF and have not yet had genetic testing to determine their CF mutations, or have been tested previously but still have one or more unknown mutations. There are no income or insurance requirements.
The cost of the genetic testing will be covered under a grant provided by the CF Foundation. However, the patient or CF care center is responsible for the cost of the blood sample and for shipping and postage for mailing the sample to the lab.
Patients may get their blood drawn at their care center lab, if available. Otherwise, it is at the provider's and patient's discretion to use a lab that is most convenient and affordable.
All CF patients enrolled in the MAP will receive full CFTR gene sequencing and dosage analysis. If the patient is from the state of New York, the ordering provider is required to complete and submit the New York State Non-Permitted Laboratory Test Request Approval Form. This approval must be completed and sent to the JHGDDL before testing can begin.
No. An individual may only participate in the MAP once.
No, patients' names and corresponding test results will not be released to the public. Test results will be released only to the referring doctor or CF care center.
In order to allocate funds in the most efficient way, testing occurs in batches. It can take up to 90 days to receive results.