Succinate Dehydrogenase (SDH) Gene, Known Mutation
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Diagnosis of hereditary paraganglioma-pheochromocytoma syndrome, when a familial mutation has been previously identified (point mutation or small insertion or deletion of a few nucleotides)
Screening presymptomatic members of hereditary paraganglioma-pheochromocytoma syndrome families, when a familial mutation has been previously identified (point mutation or small insertion or deletion of a few nucleotides)
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
This genetic test should be used for individuals at risk for a known familial SDHB, SDHC, or SDHD gene mutation which can be identified by sequence analysis (such as a nucleotide substitution or a small deletion/duplication of a few nucleotides). If the known familial mutation is a large deletion of SDHB, SDHC, or SDHD (whole exon or whole gene), order SDHDD / Succinate Dehydrogenase (SDH) Gene, Deletion Detection. For additional guidance, contact the laboratory genetic counselor at 800-533-1710.
Documentation of the specific familial mutation must be provided with the specimen in order to perform this test.
Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.
|Test ID||Reporting Name||Available Separately||Always Performed|
|SDHKS||SDH Known Mutation||No||Yes|
|SDHKQ||SDH Known Mutation Sequencing||No||Yes|
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing and Deletion Detection by Multiplex Ligation-Dependent Probe Amplification (MLPA)
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
SDH Known Mutation
SDH (Succinate Dehydrogenase) Gene