突变分析程序(MAP), funded by the Cystic Fibrosis Foundation and administered by The Johns Hopkins Genomics DNA Diagnostic Laboratory (JHGDDL), is a free and confidential genetic testing program for people with a confirmed or strongly suspected diagnosis of cystic fibrosis. The program provides genetic testing to people who have not yet been tested to determine their CF variants, or who have been tested previously but still have one or more unknown CF-causing variants.

通过了解它们引起cf的变异, your patients can make informed decisions with you—their health care provider—about the most appropriate treatment options for them.

Eligibility Guidelines | Enrollment Process | Forms | FAQs

Test Description

MAP为患者提供了最全面的临床基因检测 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. 请注意“全基因”或“全基因测序” CFTR as described by other laboratories may not be equivalent to the testing provided by MAP (see below).

JHGDDL自豪地为患者提供MAP提供的优势:

• 测试由囊性纤维化基金会全额资助. 入组患者接受全 CFTR 基因测序免费，除了样品收集和运输.
• 完整的整体分析 CFTR 基因由具有30多年基因变异解读经验的专家团队负责 CFTR.
• Increased sensitivity for individuals carrying unusual CF-causing variants such as gene rearrangements and intronic changes.
• 先前入组的患者汗液氯化物水平≥40mM, clinical features of CF, and only one CF-causing variant are eligible for re-enrollment in the MAP (see re-enrollment eligibility). As our understanding of variant effect increases, re-analysis of sequence data may yield an answer.
• MAP阴性检测提供了令人信服的证据 CFTR is not the cause of an individual’s elevated sweat chloride concentration and clinical features. 分析其他已知导致汗液氯浓度升高的基因(如.g. ENaC subunits and CA12)和临床外显子组测序也由DNA诊断实验室提供.
• 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.

Eligibility Guidelines

First-Time Enrollment

1. 患者必须是美国居民.
2. 患者必须由经认证的CF护理中心的医生转诊. 要找到一个合格的CF护理中心，请参考 囊性纤维化基金会的目录.
3. 患者必须尚未进行基因检测以确定其CF变异, 或者以前已经测试过，但仍然有一个或多个未知的变体. Patients must have a confirmed or 强烈怀疑CF的诊断.
4. 最低的汗液氯化物水平是入学考虑的标准. 如果你的推荐十大正规网赌平台不能做汗液测试, please contact the JHGDDL to provide additional clinical information supporting your patient’s diagnosis.

Qualified Re-Enrollment

以前参加过该计划的个人见面 both 符合以下条件的学生可以重新报名进行全基因测序:

1. MAP测试确定了一种单一的cf致病变异.
2. 最低汗液氯化物浓度大于40 mmol/L.

 请注意，2月15日之后注册的个人, 2021, 已接受全基因测序者是否不符合资格 for re-enrollment.

供应商注册流程

1. 提供者提交完整的注册表格

   Complete the enrollment form, also available on the Cystic Fibrosis Foundation patient portal. 填妥的表格应传真至实验室，电话:410-367-3266. Please note that incomplete or outdated forms will not be accepted for consideration.  

2. JHGDDL审查注册并发布决定

   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. 如果你想上诉的话, 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. 样品从被批准的个人处采集并送到JHGDDL

   Once you receive an approval letter for your patient, a sample can be submitted for testing. 批准重新入组的患者, 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. 如果你和你的推荐十大正规网赌平台选择提交唾液样本, 一个收集工具将被运送给推荐十大正规网赌平台. 如果您选择提交血液样本，样本可能会被运送到:
   
   
   Johns Hopkins Genomics – DDL 
   1812 Ashland Ave. 
   Sample Intake; Room 245 
   Baltimore, MD 21205

4. JHGDDL启动测试并在90天内发布结果

   Once testing is complete, results will be faxed directly from the JHGDDL to the number provided on MAP enrollment form. 结果可能需要90天才能报告.