What is flow cytometry used for?
Flow cytometry is a laser-based technique used to detect and analyze the chemical and physical characteristics of cells or particles. It is most commonly used to evaluate bone marrow, peripheral blood and other fluids in your body.
What is PNH flow cytometry?
Flow cytometry is the gold standard in diagnosis of paroxysmal nocturnal hemoglobinuria (PNH) by detecting the absence of glycol-phosphatidyl inositol (GPI)-linked protein expression on granulocyte and monocyte surfaces.
How is PNH diagnosed?
The main diagnostic test for individuals with suspected PNH is flow cytometry, a blood test that can identify PNH cells (blood cells that are missing GPI-anchored proteins).
Which is a negative result for PNH?
A negative test does not rule out PNH. False-negative results may occur if the fluid part of blood (serum) lacks complement. Normal value ranges may vary slightly among different laboratories. Some labs use different measurements or test different samples.
What are the symptoms of PNH?
While paroxysmal nocturnal hemoglobinuria is named for one symptom, people who have PNH typically seek medical help because they have severe and persistent fatigue or tiredness that affects their daily lives. Other symptoms include: Shortness of breath (dyspnea). Kidney problems.
What is the treatment for PNH?
The most widely used drug to treat PNH is eculizumab (Soliris). The drug binds to proteins in the blood that can destroy red blood cells. It reduces the risk of blood clotting and can improve quality of life in PNH patients. A newer drug called ravulizumab (Ultomiris) works in a similar way to eculizumab.
Is PNH life threatening?
They lack certain proteins that protect them. You can get paroxysmal nocturnal hemoglobinuria (PNH) at any age. You aren’t born with it. Although it can be life-threatening, treatments can help you feel better and control some of its complications.
Is flow cytometry a genetic test?
While genetic analysis provides a definitive diagnosis for PIDs, flow cytometry is necessary to confirm or establish the immune phenotype of a gene mutation. Furthermore, flow cytometry provides a rapid means to identify an immunological defect at a relatively low cost.
Is PNH serious?
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, life-threatening disease of the blood. The disease is characterized by destruction of red blood cells, blood clots, and impaired bone marrow function.
What causes PNH disease?
Causes of PNH PNH happens because of a change ( mutation ) in the PIG-A gene of a single stem cell in your bone marrow . This gene controls the creation of substance that helps certain proteins to stick to blood cells. Therefore, any blood cells created by this mutant bone marrow stem cell are abnormal.
Can you live a normal life with PNH?
Most cases of PNH can be life threatening. The average survival period after diagnosis is 10 years, but some people live for several decades and only experience minor symptoms.
Can PNH be cured?
The only way to cure PNH is with what’s called an allogenic stem cell transplant. Also called a bone marrow transplant, it replaces your damaged stem cells with healthy ones from a donor, usually a close relative because they’re often the best match.