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

3004480
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Additional Technical Information

Ordering Recommendation

Preferred initial test when hereditary paraganglioma-pheochromocytoma is suspected.

Mnemonic

SDH NGS

Methodology

Massively Parallel Sequencing/ Multiplex Ligation-dependent Probe Amplification

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (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: 1 week; Frozen: Unacceptable

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

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
02/22/2022
X
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

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