Atypical Hemolytic Uremic Syndrome (aHUS)/Thrombotic Microangiopathy (TMA)/Complement 3 Glomerulopathy (C3G) Gene Panel, Varies
Use
This test provides a genetic evaluation for individuals with a personal or familial history indicative of atypical hemolytic uremic syndrome (aHUS), thrombotic microangiopathy (TMA), or complement 3 glomerulopathy (C3G). It aids in establishing diagnoses of genetic aHUS, TMA, or C3G, facilitating appropriate management and surveillance based on the specific gene involved. It identifies variants in genes related to complement alternate pathway components and specific coagulation pathway genes associated with aHUS, TMA, and C3G, thereby enabling predictive testing of at-risk family members. Furthermore, the genetic insights gained may inform treatment decisions, duration of therapy, recurrence risk evaluation, and transplantation considerations.
Special Instructions
The test utilizes next-generation sequencing to detect single nucleotide variants, small deletions/insertions, and copy number variants in 15 critical genes associated with aHUS, TMA, and C3G. The included genes are ADAMTS13, C3, C5, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, MMACHC, and THBD.
Limitations
The test primarily identifies pathogenic variants which may assist with diagnosis, prognosis, and familial genetic counseling related to aHUS, TMA, and C3G. However, limitations might include the scope of gene variants detectable through the specific NGS approach used, and unknown variants or those not covered by the panel may remain undetected. Additionally, certain rare or unusual genetic variations outside the tested regions might be missed, and clinical correlation is essential for interpretation of any genetic variants found.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided