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Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis Panel: Sequencing

Alternate test name

aHUS, Familial Hemolytic-Uremic Syndrome, Hereditary Hemolytic-Uremic Syndrome, MPGN; Mesangiocapillary glomerulonephritis

Gene name / Alternate gene name
  • CD46
  • CFB
  • CFH
  • CFHR5
  • CFI
  • C3
  • THBD
Membrane cofactor protein, Complement factor B, Complement factor H, Complement factor H-related 5, Complement factor I, Complement component 3, Thrombomodulin
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Expected turn-around time
Prenatal samples: 2 weeks Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

Blood; gDNA.

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

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and 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.

See related information sheet Complement Based Renal Disease

Disease condition

Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis

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