Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis Panel: Sequencing
aHUS, Familial Hemolytic-Uremic Syndrome, Hereditary Hemolytic-Uremic Syndrome, MPGN; Mesangiocapillary glomerulonephritis
For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
For details about specimen requirements, please refer to: Specimen Type and Requirements
Special Instructions for Genome Diagnostics Samples
If sample shipment >48 hours, ship on ice.
Atypical Hemolytic Uremic Syndrome (aHUS) & Membranoproliferative Glomerulonephritis (MPGN) Hemolytic Uremic syndrome (HUS) is characterized by the triad of anemia, thrombocy-topenia and renal dysfunction. Approximately 10% of cases of HUS are atypical. Typical HUS is preceded by diarrhea and is associated with E. Coli infections, whereas in atypical HUS (aHUS) diarrhea is absent and a relapsing of familial presentation is seen. MPGN is a kidney disease characterized by dense deposits within the glomerular capillary wall, associated with impaired glomerular function to filter plasma and generate a protein-free ultrafiltrate. MPGN typically presents with a hematuria and/or proteinuria, acute nephritic syndrome or nephritic syndrome. It most frequently affects children between the ages of five and 15. Both aHUS and MPGN are associated with dysfunction of the alternative complement pathway (AP) involved in innate immunity, frequently progressing to end-stage renal disease (ESRD) requiring dialysis or kidney transplantation. aHUS and MPGN are part of a spectrum of disease defined by the underlying molecular defect.
See related information sheet Complement Based Renal Disease
Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis
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