Hereditary Paraganglioma-Pheochromocytoma (SDHA, SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication
Ordering Recommendation
Use for germline analysis of genes associated with the most common paraganglioma-pheochromocytoma syndromes.
To compare this test to other hereditary cancer panels, refer to the ARUP Hereditary Cancer Panel Comparison table.
New York DOH Approval Status
Specimen Required
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: 8 mL (Min: 8 mL)
Refrigerated
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
New York State Clients: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing/Multiplex Ligation-Dependent Probe Amplification (MLPA)
Performed
Varies
Reported
10-15 days
Reference Interval
By report
Interpretive Data
Refer to report
Laboratory Developed Test (LDT)
Note
Genes tested: SDHA* (NM_004168), SDHB (NM_003000), SDHC (NM_003001), SDHD (NM_003002)
* One or more exons are not covered by sequencing, and deletion/duplication detection is not available for this gene; see Additional Technical Information.
Hotline History
Hotline History
CPT Codes
81404; 81405; 81406; 81479
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3004481 | SDH Specimen | |
3004482 | SDH Interp |
Aliases
- carotid body tumors and multiple extra-adrenal pheochromocytomas
- esophageal leiomyoma
- mitochondrial complex II deficiency, nuclear type 4
- succinate dehydrogenase, subunit D
- paragangliomas 1
- vagal paraganglioma
- Carney-Stratakis syndrome
- gastrointestinal stromal tumor
- HNPGL
- jugulotympanic paraganglioma
- mitochondrial complex II deficiency, nuclear type 1
- papillary thyroid carcinoma
- paraganglioma
- pulmonary chondroma
- PGL/PCC
- paragangliomas 3
- SDHD
- succinate dehydrogenase
- succinate dehydrogenase, subunit A
- succinate dehydrogenase, subunit B
- succinate dehydrogenase, subunit C
- PCC
- paragangliomas 4
- pheochromocytoma
- paragangliomas 5
- GIST
- hereditary paraganglioma-pheochromocytoma
- adrenal medulla tumor
- mitochondrial complex II deficiency, nuclear type 3
- neuroendocrine tumor
- Adrenal cortical adenoma
- PGL
- pituitary adenoma
- paraganglioma and gastric stromal sarcoma
- renal clear cell carcinoma
- SDHA
- SDHB
- SDHC