3004480
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Hereditary Paraganglioma-Pheochromocytoma (SDHA, SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication

SDH NGS
Example Reports
Negative
Positive

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Hereditary Cancer Testing Patient History Form

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Informed Consent for Genetic Testing (Required for NY patients)

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Additional Technical Information

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

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: 5 mL (Min: 2 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.

Remarks
Stability

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

Compliance Category

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

N/A

CPT Codes

81404; 81405; 81406; 81479

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Components

Component Test Code* Component Chart Name LOINC
3004481 SDH Specimen
3004482 SDH Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • SDHB
  • paraganglioma and gastric stromal sarcoma
  • renal clear cell carcinoma
  • succinate dehydrogenase, subunit B
  • succinate dehydrogenase, subunit C
  • succinate dehydrogenase, subunit D
  • vagal paraganglioma
  • paragangliomas 1
  • SDHD
  • adrenal medulla tumor
  • Carney-Stratakis syndrome
  • mitochondrial complex II deficiency, nuclear type 4
  • neuroendocrine tumor
  • papillary thyroid carcinoma
  • paraganglioma
  • paragangliomas 3
  • paragangliomas 4
  • Adrenal cortical adenoma
  • PGL
  • PGL/PCC
  • succinate dehydrogenase
  • pheochromocytoma
  • pituitary adenoma
  • pulmonary chondroma
  • SDHA
  • SDHC
  • succinate dehydrogenase, subunit A
  • paragangliomas 5
  • PCC
  • 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
Hereditary Paraganglioma-Pheochromocytoma (SDHA, SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication