1. 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. (1) Submit:

      1. (a) A completed:

         1. (i) Application as prescribed in Regulation .04 of this chapter; and
         2. (ii) Report or questionnaire as required by the Secretary to determine regulatory compliance;

      2. (b) A copy of the laboratory's:

         1. (i) Current CLIA certificate issued by CMS; and
         2. (ii) Most recent CLIA survey report;

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

         1. (i) The test procedure, including instructions for quality control and quality assurance;
         2. (ii) A description of the disease or condition;
         3. (iii) An explanation of the clinical validity of the test;
         4. (iv) The performance characteristics of the test;
         5. (v) The expected turnaround time for patient test results; and
         6. (vi) Additional information necessary for determining eligibility and compliance with this subtitle; and

   2. (2) Agree to:

      1. (a) Make records and reports available to the Department as the Secretary may require;
      2. (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;
      3. (c) Perform not more than 50 rare disease tests each year on specimens from Maryland patients; and
      4. (d) Submit to the Department statistics that detail the number and types of rare disease tests performed each year on specimens from Maryland patients.

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

   1. (1) Comply with good laboratory practices that include:

      1. (a) Following the manufacturer's instructions for instrument or test system operation and test performance;
      2. (b) Having and following a written procedure manual describing the processes for performing tests and reporting patient test results;
      3. (c) Performing applicable instrument calibration procedures at least once every 6 months;
      4. (d) Performing and documenting quality control procedures using applicable levels of control materials each day of testing; and
      5. (e) Performing and documenting that remedial action has been taken when problems or errors are identified; and

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

      1. (a) Proficiency testing under COMAR 10.10.05;
      2. (b) Quality assurance under COMAR 10.10.06;
      3. (c) Personnel under COMAR 10.10.07;
      4. (d) Sanctions under COMAR 10.10.08; and
      5. (e) CLIA regulations incorporated by reference at COMAR 10.10.01.04B(3) — (5).

3. 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. (1) Submit amendments to the application and explanatory documentation; or
   2. (2) Apply for a permit in accordance with this subtitle.

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

   1. (1) Investigate a complaint; or
   2. (2) Determine compliance with this subtitle.
5. 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.

Authority: Environment Article, §6-303; Health-General Article, §§2-104(b), 17-202, 17-205—17-210, 17-212, 17-502, 17-503, 17-505, and 17-510; Annotated Code of Maryland

Effective date: December 13, 1999 (26:25 Md. R. 1897)

Regulation .01 amended effective July 24, 2000 (27:14 Md. R. 1340); July 23, 2001 (28:14 Md. R. 1321)

Regulation .01A amended effective June 1, 2009 (36:11 Md. R. 787)

Regulation .01E adopted effective June 1, 2009 (36:11 Md. R. 787)

Regulation .02 amended effective July 24, 2000 (27:14 Md. R. 1340); June 1, 2009 (36:11 Md. R. 787); April 13, 2015 (42:7 Md. R. 568)

Regulation .02A amended effective July 22, 2002 (29:14 Md. R. 1074); April 16, 2012 (39:7 Md. R. 492)

Regulation .02B amended as an emergency provision effective November 1, 2004 (31:25 Md. R. 1789); amended permanently effective January 6, 2005 (31:26 Md. R. 1863); March 1, 2026 (52:24 Md. R. 1198)

Regulation .02B amended effective August 29, 2005 (32:17 Md. R. 1438); February 22, 2010 (37:4 Md. R. 341); April 16, 2012 (39:7 Md. R. 492); November 12, 2012 (39:22 Md. R. 1428); April 1, 2013 (40:6 Md. R. 473); March 13, 2017 (44:5 Md. R. 292)

Regulation .02C amended effective November 12, 2012 (39:22 Md. R. 1428)

Regulation .03C amended effective June 1, 2009 (36:11 Md. R. 787); August 29, 2016 (43:17 Md. R. 953)

Regulation .04 amended effective June 1, 2009 (36:11 Md. R. 787); March 1, 2026 (52:24 Md. R. 1198)

Regulation .04B, E amended effective August 29, 2016 (43:17 Md. R. 953)

Regulation .05 adopted effective June 1, 2009 (36:11 Md. R. 787)

Regulation .06 adopted effective June 1, 2009 (36:11 Md. R. 787)

Regulation .06A amended effective August 29, 2016 (43:17 Md. R. 953)