Mutation Analysis Program

The Mutation Analysis Program provides free genetic testing to people with cystic fibrosis to help identify their CF gene mutations.

3 min read

The Mutation Analysis Program (MAP), funded by the Cystic Fibrosis Foundation and administered by The John 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 more information about MAP, please contact JHDDL at 410-614-2750 (or 1-833-818-2750 toll free).

For providers, please contact JHDDL for screening and to obtain the enrollment form. Completed forms may be faxed to 410-367-3266. Blood samples may be shipped to:

Johns Hopkins Genomics - DDL
1812 Ashland Ave.
Sample Intake, Room 245
Baltimore, MD 21205

FAQs: Enrolling in the Mutation Analysis Program

What are the eligibility requirements for participating in the MAP?

Individuals must have a 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.

Who covers the cost of the genetic testing?

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.

Where can my CF patient get a blood sample taken?

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.

Can a person participate in this program more than once?

No. People may participate in the MAP only once.

What types of testing are offered?

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.

Will the patient's name and test results be released to the public?

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.

When can providers expect test results?

In order to allocate funds in the most efficient way, testing occurs in batches. It can take up to 90 days to receive results.

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