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Test ID: SDHDD    
Succinate Dehydrogenase (SDH) Gene, Deletion Detection

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

89555

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

Aiding in the diagnosis of hereditary paraganglioma-pheochromocytoma syndrome by detection of a large (single- or multi-exon) deletion of the SDHB, SDHC, or SDHD genes when sequence analysis of these genes detects no mutations

                                                 

Diagnosis of hereditary paraganglioma-pheochromocytoma syndrome, when a large familial deletion of SDHB, SDHC, or SDHD has been previously identified (involving one exon or multiple exons)

 

Screening presymptomatic members of hereditary paraganglioma-pheochromocytoma syndrome families, when a large familial deletion of SDHB, SDHC, or SDHD has been previously identified (involving one exon or multiple exons)

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

This test is intended for patients for whom a large SDHB, SDHC, or SDHD gene deletion has been previously identified in the family, or for patients whom have previously undergone sequence analysis of SDHB, SDHC, and SDHD with negative results. For additional guidance, contact the laboratory genetic counselor at 800-533-1710.

 

If performing testing for a known familial large deletion, documentation of the specific familial deletion must be provided with the specimen in order to perform this test.

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/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 Deletion Detection

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

SDH (Succinate Dehydrogenase) Gene
Pheochromocytoma
Paraganglioma