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Hereditary Spherocytosis

About Test

Hereditary Spherocytosis (HS) is a genetic disorder that affects the shape and function of red blood cells. The condition is caused by mutations in genes that are involved in the formation of the red blood cell membrane. People with HS have red blood cells that are abnormally shaped, causing them to become stiff and sphere-like (hence the name "spherocytosis"). This can lead to anemia, jaundice, and other symptoms.

A Hereditary Spherocytosis test is a laboratory test that is used to diagnose HS by identifying mutations in the genes responsible for the condition. The test typically involves extracting DNA from a blood sample and performing genetic testing to detect any mutations in the relevant genes.

The results of the Hereditary Spherocytosis test can provide valuable information for the diagnosis and management of HS. A positive result can confirm the presence of the condition, while a negative result can help to rule out HS as a potential cause of symptoms. The results of the test can also inform genetic counseling and medical management decisions for affected individuals and their families.

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