Ordering Recommendation

Use when SDHD-related hereditary paraganglioma-pheochromocytoma is suspected.

Mnemonic
SDHD FGA
Methodology

Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification

Performed

Varies

Reported

14-21 days

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 (K2EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months

Reference Interval
Interpretive Data

Background Information for Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication:
Characteristics:
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (neuroendocrine tumors of the autonomic nervous system) and pheochromocytomas (paragangliomas of the adrenal medulla). Pathogenic germline mutations in a number of genes, including SDHD, predispose to paraganglioma and pheochromocytoma.
Incidence:
About 1 in 300,000 per year.
Inheritance:
Autosomal dominant; disease manifestations generally occur when mutations in SDHD are inherited from the father (but not from the mother) due to a parent of origin effect.
Cause
: Pathogenic succinate dehydrogenase, subunits B, C, and D (SDHB, SDHC, and SDHD) gene mutations. Mutations in other genes, including TMEM127, EGLN1, MAX, SDHA, and SDHAF2, may also be causative.
Clinical Sensitivity:
15 percent.
Methodology:
Bidirectional sequencing of all coding regions and intron-exon boundaries of the SDHD gene; multiplex ligation-dependent probe amplification (MLPA) to detect large SDHD deletions/duplications.
Analytical Sensitivity and Specificity:
Sequencing: 99 percent. MLPA: 90 and 99 percent, respectively.
Limitations:
Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations and deep intronic mutations will not be detected. The breakpoints of large deletions/duplications will not be determined. Mutations in genes other than SDHD are not evaluated. This assay is not designed to detect somatic variants associated with malignancy. Interpretation of this test result may be impacted if the patient has had an allogeneic stem cell transplantation.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81404; 81479

Components
Component Test Code* Component Chart Name LOINC
2007123 HPGL-PCC (SDHD) Seq, DelDup Specimen 31208-2
2007124 HPGL-PCC (SDHD) Seq, DelDup Interp 41061-3
* 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
  • Succinate Dehydrogenase genetic assay
  • Hereditary PGL/PCC Type 1 molecular assay
  • Paraganglioma (SDHD) Sequencing and Deletion/Duplication
  • PCC (SDHD) Sequencing and Deletion/Duplication
  • PGL (SDHD) Sequencing and Deletion/Duplication
  • Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication
  • SDHD Gene
  • SDHD Sequencing and Deletion/Duplication
  • Stromal Tumor (SDHD) Sequencing and Deletion/Duplication
  • Succinate Dehydrogenase, subset C (SDHD) Sequencing and Deletion/Duplication
Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication