Mitochondrial Respiratory Chain Complex II Deficiency Panel by Massively Parallel Sequencing
Use
The Mitochondrial Respiratory Chain Complex II Deficiency Panel plays a crucial role in diagnosing and guiding the management of Hereditary Paraganglioma-Pheochromocytoma Syndrome and Mitochondrial Respiratory Chain Complex II Deficiency. Individuals with pathogenic variants in genes such as SDHA, SDHB, SDHC, SDHD, and SDHAF1 are at increased risk for these conditions. The panel assists in identifying at-risk individuals, thereby facilitating early management and intervention. This fulfills a significant need in the clinical setting as it enables personalized patient care based on genetic insights, ultimately improving outcomes for affected families.
Special Instructions
Testing candidates should include individuals with clinical indicators or family history suggestive of Hereditary Paraganglioma-Pheochromocytoma Syndrome. Pre-test genetic counseling is recommended to prepare patients and families for the implications of genetic testing results. This includes potential emotional impacts, family planning implications, and the need for follow-up testing or monitoring actionable findings.
Limitations
This analysis is limited to detecting variants within exons and introns that are less than 20bp from the exon/intron boundaries. It does not encompass inversions, mutations within promoter regions, or deep intronic mutations. Such limitations must be acknowledged, as they may impact clinical decision-making and the interpretation of results.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
3-5 cc
Minimum Volume
3 cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s).
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
Other tests from different labs that may be relevant