Sec. 10.10.03.06. Letter of Exception — Limited Testing for Rare Diseases; Standards and Requirements

A. Application Requirements and Testing Approval. A person required to obtain a license to operate a laboratory that chooses to operate under a letter of exception - limited testing for rare diseases shall:

(1) Submit:

(a) A completed:

(i) Application as prescribed in Regulation .04 of this chapter; and

(ii) Report or questionnaire as required by the Secretary to determine regulatory compliance;

(b) A copy of the laboratory's:

(i) Current CLIA certificate issued by CMS; and

(ii) Most recent CLIA survey report;

(c) Documentation of the rare disease testing offered or performed, including but not limited to:

(i) The test procedure, including instructions for quality control and quality assurance;

(ii) A description of the disease or condition;

(iii) An explanation of the clinical validity of the test;

(iv) The performance characteristics of the test;

(v) The expected turnaround time for patient test results; and

(vi) Additional information necessary for determining eligibility and compliance with this subtitle; and

(2) Agree to:

(a) Make records and reports available to the Department as the Secretary may require;

(b) Notify the Department when a change to a licensee's rare disease testing procedure occurs for the purpose of the Department's determining whether the change is in compliance with this subtitle;

(c) Perform not more than 50 rare disease tests each year on specimens from Maryland patients; and

(d) Submit to the Department statistics that detail the number and types of rare disease tests performed each year on specimens from Maryland patients.

B. Standards. A person that wishes to obtain and maintain a letter of exception - limited testing for rare diseases shall:

(1) Comply with good laboratory practices that include:

(a) Following the manufacturer's instructions for instrument or test system operation and test performance;

(b) Having and following a written procedure manual describing the processes for performing tests and reporting patient test results;

(c) Performing applicable instrument calibration procedures at least once every 6 months;

(d) Performing and documenting quality control procedures using applicable levels of control materials each day of testing; and

(e) Performing and documenting that remedial action has been taken when problems or errors are identified; and

(2) Meet the requirements and standards in this subtitle applicable to a permitted laboratory including:

(a) Proficiency testing under COMAR 10.10.05;

(b) Quality assurance under COMAR 10.10.06;

(c) Personnel under COMAR 10.10.07;

(d) Sanctions under COMAR 10.10.08; and

(e) CLIA regulations incorporated by reference at COMAR 10.10.01.04B(3)-(5).

C. If the submitted application and explanatory documentation do not meet the requirements of this regulation or if the information submitted for the plan is insufficient to make a determination of compliance with this subtitle, a person may:

(1) Submit amendments to the application and explanatory documentation; or

(2) Apply for a permit in accordance with this subtitle.

D. The OHCQ may conduct on-site surveys of a laboratory operating under a letter of exception - limited testing for rare diseases to:

(1) Investigate a complaint; or

(2) Determine compliance with this subtitle.

E. If a licensee wishes to perform more than 50 rare disease tests per year, the licensee shall submit an application for and obtain a permit as required under this subtitle.