Hereditary Paraganglioma-Pheochromocytoma (SDHA, SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication
Ordering Recommendation
Preferred initial test when hereditary paraganglioma-pheochromocytoma is suspected.
Mnemonic
Methodology
Massively Parallel Sequencing/ Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
3-6 weeks
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)
Refrigerated
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush or swab, FFPE tissue, DNA.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report
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
- Adrenal cortical adenoma
- adrenal medulla tumor
- Carney-Stratakis syndrome
- carotid body tumors and multiple extra-adrenal pheochromocytomas
- esophageal leiomyoma
- gastrointestinal stromal tumor
- GIST
- hereditary paraganglioma-pheochromocytoma
- HNPGL
- jugulotympanic paraganglioma
- mitochondrial complex II deficiency, nuclear type 1
- mitochondrial complex II deficiency, nuclear type 3
- mitochondrial complex II deficiency, nuclear type 4
- neuroendocrine tumor
- papillary thyroid carcinoma
- paraganglioma
- paraganglioma and gastric stromal sarcoma
- paragangliomas 1
- paragangliomas 3
- paragangliomas 4
- paragangliomas 5
- PCC
- PGL
- PGL/PCC
- pheochromocytoma
- pituitary adenoma
- pulmonary chondroma
- renal clear cell carcinoma
- SDHA
- SDHB
- SDHC
- SDHD
- succinate dehydrogenase
- succinate dehydrogenase, subunit A
- succinate dehydrogenase, subunit B
- succinate dehydrogenase, subunit C
- succinate dehydrogenase, subunit D
- vagal paraganglioma