The Mutation Analysis Program (MAP), funded by the Cystic Fibrosis Foundation and administered by The Johns Hopkins DNA Diagnostic Laboratory (JHGDDL), is a free and confidential genetic testing program for people with a strongly suspected or confirmed diagnosis of cystic fibrosis. The program provides genetic testing to people who have had initial genetic testing and still have one or more unknown CF-causing variants (mutations).

By knowing their CF variants, your patients can make informed decisions with you, their health care provider, about the most appropriate treatment options for them.
 

Frequently Asked Questions

What are the eligibility requirements for participating in the MAP?

The Mutation Analysis Program is open to US residents referred by a provider at an accredited CF care center.

Individuals must have a confirmed or strongly suspected diagnosis of CF, have had initial genetic testing to determine their CF variants, and still have one or more unknown variants. There are no income or insurance requirements.

Individuals previously enrolled in the program who meet both the following criteria will be allowed to re-enroll for whole gene sequencing:

1. MAP testing identified a single CF-causing variant. 
2. Lowest sweat chloride concentration is greater than 40 mmol/L.

Patients enrolled after February 15, 2021, who have already received whole gene sequencing are not eligible.

To re-enroll your patient, please complete the enrollment form (available in English and Spanish) and fax it to JHGDDL at 410-367-3266.

What types of genetic testing are performed?

MAP offers patients the most comprehensive clinical genetic test for CFTR available. The complete CFTR gene is sequenced — all exons and all introns along with 10kb upstream and 5kb downstream of the gene — along with deletion/duplication analysis. Please be aware that “full gene” or “whole gene sequencing” of CFTR as described by other laboratories is not as extensive as provided by MAP, as shown in this table.

How do I enroll my patient in MAP?

Complete complete the enrollment form (available in English and Spanish) and fax completed forms to JHGDDL at 410-367-3266. Please note that incomplete or outdated forms will not be accepted.

JHGDDL will review the enrollment and issue a decision. This process may take up to 3 business days for first-time enrollments, 2–3 weeks for re-enrollments. If your patient’s enrollment is denied, JHGDDL will issue a letter detailing the reasons for denial. If you would like to appeal a denial, please contact JHGDDL to provide additional clinical information supporting your patient’s diagnosis. JHGDDL will perform a secondary review of your patient’s credentials and issue a final enrollment decision.

When you receive an approval letter for your patient, a sample can be submitted for testing. If you and your patient elected to submit a saliva sample, a collection kit will be shipped to the patient. If you choose to submit a blood sample, ship specimens to:

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

For patients approved for re-enrollment, JHGDDL will confirm whether there is sufficient DNA remaining from prior testing. We will inform you if we requires a new sample in the re-enrollment approval letter.

Once testing is complete, we will fax results directly to the number provided on MAP enrollment form. Results may take up to 90 days to report.

What kind of sample is acceptable for testing?

JHGDDL accepts blood or saliva from individuals older than 5 years for testing. Saliva samples must be submitted in a CFFMAP-provided collection kit.

Where can my CF patient get a blood sample taken?

Patients can 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.

Who covers the cost of the genetic testing?

The cost of the genetic testing is covered under a grant provided by the CF Foundation. However, the patient or CF care center is responsible for the cost of the blood draw in clinic or local lab (if applicable) and for shipping the sample to the lab.

Alternatively, a saliva kit can be mailed free of charge to a patient’s home with return postage included.

Is testing offered by the MAP New York State approved?

No. 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 to the New York State Department of Health Clinical Laboratory Evaluation Program (CLEP) for approval. This request must be completed by the ordering provider and the approval shared with the JHGDDL before testing can begin.

Please send non-permitted lab test request forms to the following CLEP program:

Genetic Testing Quality Assurance Program
Wadsworth Center, NYSDOH
Phone: 518-474-6271
Fax: 518-486-2693

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?

For efficiency, testing occurs in batches. It can take up to 90 days to receive results.

Can a person participate in this program more than once?

Generally, individuals may participate only once. Individuals previously enrolled in the program who meet both the following criteria will be allowed to re-enroll for whole CFTR gene sequencing:

• MAP testing identified a single CF-causing variant. 
• Lowest sweat chloride concentration is greater than 40 mmol/L.

Patients enrolled after February 15, 2021, who have already received whole CFTR gene sequencing are not eligible.

To re-enroll your patient, please complete the enrollment form (available in English and Spanish) and fax it to JHGDDL at 410-367-3266.

How is MAP different than other testing options?

MAP offers the following advantages over other testing options:

• MAP offers patients the most comprehensive clinical genetic test for CFTR that is currently available. The whole CFTR gene is sequenced (all exons and all introns along with 10 kb upstream and 5kb downstream of the gene) along with deletion/duplication analysis. Please be aware that "full gene" or "whole gene sequencing" of CFTR, as described by other laboratories, may not be equivalent to the testing provided by MAP. 
• Testing is fully funded by the Cystic Fibrosis Foundation. Enrolled patients receive whole CFTR gene sequencing at no cost.
• Complete analysis of the CFTR gene by an expert team with more than 30 years’ experience interpreting variation in CFTR. 
• Increased sensitivity for individuals carrying unusual CF-causing variants, such as gene rearrangements and intronic changes.
• Previously enrolled patients with sweat chloride levels ≥40 mmol/L, clinical features of CF, and only one CF-causing variant are eligible for re-enrollment in MAP (see re-enrollment eligibility). As our understanding of variant effect increases, re-analysis of sequence data may yield an answer.
• Negative MAP testing provides compelling evidence that CFTR is not the cause of an individual’s elevated sweat chloride concentration and clinical features. Analysis of other genes known to cause elevated sweat chloride concentration (e.g. ENaC subunits and CA12) and whole exome sequencing are also offered by JHGDDL.
• De-identified variant data collected by MAP may be used to understand CF pathophysiology. Rare variants of unknown effect can be evaluated by the CFTR2 project to ascertain effect on CFTR function and response to FDA-approved CFTR modulators.