Forms | Test Description | Eligibility Guidelines | Enrollment Process | FAQs

Test Description

The MAP offers patients the most comprehensive clinical genetic test for CFTR that is currently available. The complete 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 (see below).

Eligibility Guidelines

First-Time Enrollment

1. Patients must be a resident of the US.
2. Patients must be referred by a physician at an accredited CF Care Center. To find an accredited CF Care Center please refer to the Cystic Fibrosis Foundation’s directory.
3. Patients must have not yet had genetic testing to determine their CF variants, or have been tested previously but still have one or more unknown variants. Patients must have a confirmed or strongly suspected diagnosis of CF.
4. Lowest sweat chloride levels are required for enrollment consideration. If your patient is unable to have a sweat test, please contact the JHGDDL to provide additional clinical information supporting your patient’s diagnosis.

Qualified Re-Enrollment

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.

 Please note that individuals enrolled after February 15, 2021, who have already received whole gene sequencing are not eligible for re-enrollment.

Enrollment Process for Providers

1. Provider submits a completed enrollment form

   Complete the enrollment form, also available on the Cystic Fibrosis Foundation patient portal. Completed forms should be faxed to the lab at 410-367-3266. Please note that incomplete or outdated forms will not be accepted for consideration.  

2. JHGDDL reviews the enrollment and issues 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 the JHGDDL will issue a letter detailing the reasons for denial. If you would like to appeal a denial, please contact the JHGDDL to provide additional clinical information supporting your patient’s diagnosis. The JHGDDL will perform a secondary review of your patient’s credentials and issue a final enrollment decision.  

3. Sample is collected from the approved individual and sent to the JHGDDL

   Once you receive an approval letter for your patient, a sample can be submitted for testing. For patients approved for re-enrollment, the JHGDDL will confirm whether there is sufficient DNA remaining from prior testing. If a new sample is required, this will be communicated in the re-enrollment approval letter. 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, specimens may be shipped to:
   
   
   Johns Hopkins Genomics – DDL 
   1812 Ashland Ave. 
   Sample Intake; Room 245 
   Baltimore, MD 21205

4. JHGDDL initiates testing and releases results within 90 days

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