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Paediatric Laboratory Medicine

Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis Panel: Sequencing

Clinical Significance

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.

Test Name

Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis Panel: Sequencing

Alternate Name/ Synonym

  • aHUS
  • Familial Hemolytic-Uremic syndrome
  • Hereditary Hemolytic-Uremic syndrome
  • MPGN; Mesangiocapillary glomerulonephritis

Gene Name

  • CD46
  • CFB
  • CFH
  • CFHR5
  • CFI
  • C3
  • THBD
  • APLN

Test Code



Molecular Genetics



External Proficiency Testing


Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)


Membrane cofactor protein, Complement factor B, Complement factor H, Complement factor H-related 5, Complement factor I, Complement component 3, Thrombomodulin, Apelin


Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis

Specimen Type

Blood; gDNA.

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Minimum Specimen Requirements

5-10 mL EDTA or ACD 0.5 mL EDTA (neonate); minimum 10 ug in 100 uL low TE (pH8.0)


Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Approval is not required

CPT Codes


Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Phone: 416-813-7200
Phone: 1-855-381-3212


Interpretation is provided in report

Information Sheet: Complement Based Renal Disease