Description
A rare disease is a disabling, chronically debilitating, or life-threatening disease or condition that has fewer than 200,000 affected individuals in the United States. A rare disease test is a test that is performed on a specimen obtained from an individual in order to determine or evaluate whether the individual has a rare disease or condition; based on a single method using one sample of a specimen to produce the test result; and is not routinely offered or performed by a medical laboratory permitted by the Department. It includes a test with multiple clinical or health evaluation uses such as newborn screening; carrier screening; predictive testing; disease diagnosis; or disease prognosis.
OHCQ is responsible for the oversight of rare disease testing laboratories, including licensure and investigation of complaints.
Maryland Regulations
Regulations related to rare disease testing are found in
COMAR 10.10.01.03. To order copies of COMAR regulations, contact Tarshia Neal at the Maryland Division of State Documents at 410-260-3874 or
[email protected]. Regulations are also available at public libraries - Find your
nearest public library.
Licensure
To apply for a license for a rare disease testing, complete and submit the
Rare Disease Testing Application. There is no fee to apply for a license. After a complete application and all requested documents are received and reviewed by OHCQ, it takes 2 - 3 weeks to receive a license.
