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Test ID: SDHKM    
Succinate Dehydrogenase (SDH) Gene, Known Mutation

Secondary ID A test code used for billing and in test definitions created prior to November 2011

89554

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of suspected succinate dehydrogenase (SDH) disease, when familial mutations have been previously identified

 

Screening presymptomatic members of SDH families, when familial mutations have been previously identified

 

Tailoring optimal tumor-surveillance strategies for patients, when used in conjunction with phenotyping, when familial mutations have been previously identified

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), please order SDHDD / SDH Deletion Detection. For additional guidance, please 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 IDReporting NameAvailable SeparatelyAlways Performed
SDHKSSDH Known MutationNoYes
SDHKQSDH Known Mutation SequencingNoYes

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

Method Name A short description of the method used to perform the 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

Aliases Lists additional common names for a test, as an aid in searching

SDH (Succinate Dehydrogenase) Gene
Pheochromocytoma
Paraganglioma