Atypical Hemolytic Uremic Syndrome (aHUS) Gene Panel

What Is aHUS?

Atypical Hemolytic Uremic Syndrome (aHUS) is a rare genetic disorder that affects the blood and kidneys. It causes abnormal clot formation in small blood vessels, leading to:

• Destruction of red blood cells (hemolytic anemia)
• Low platelet count
• Kidney damage or kidney failure

aHUS is commonly linked to abnormalities in the complement system — a part of the immune system responsible for inflammation and defense.

Why Is the aHUS Gene Panel Done?

This genetic test helps identify inherited mutations associated with aHUS and complement-mediated thrombotic microangiopathy (TMA).

Doctors may recommend this panel for individuals with:

• Unexplained kidney failure
• Recurrent hemolytic anemia
• Low platelet count
• Family history of aHUS
• Suspected complement pathway disorders
• Thrombotic microangiopathy (TMA)

Genes Commonly Included

The panel may analyze important complement-related genes such as:

• CFH
• CFI
• MCP (CD46)
• C3
• CFB
• DGKE
• THBD
• PLG
• CFHR genes

The exact gene list can vary by laboratory.

Sample Required

• Blood sample

Test Method

• Next Generation Sequencing (NGS)
• Sometimes combined with deletion/duplication analysis

What the Results Mean

Positive Result

A disease-causing mutation is identified, helping confirm a genetic predisposition to aHUS.

Negative Result

No clinically significant mutation is detected, though this does not completely rule out the condition.

Variant of Uncertain Significance (VUS)

A genetic change is found, but its clinical importance is not yet fully understood.

Benefits of the Test

• Helps confirm diagnosis
• Supports treatment planning
• Assists in family screening
• Helps assess recurrence risk after kidney transplant
• Enables personalized management strategies

Turnaround Time

Usually 2–4 weeks depending on the laboratory.

Important Note

Genetic counseling is recommended before and after testing to properly interpret the results and understand family implications.