The ADAMTS13 Gene Panel by NGS is a specialized genetic test used to identify mutations causing hereditary Thrombotic Thrombocytopenic Purpura (TTP), a rare blood disorder characterized by clot formation in small vessels, severe thrombocytopenia, and hemolytic anemia. Mutations in the ADAMTS13 gene lead to reduced enzyme activity, resulting in uncontrolled platelet aggregation. This test helps confirm the diagnosis, distinguish hereditary TTP from acquired forms, and guide long-term management. It is particularly useful for patients with recurrent unexplained thrombosis, low platelets, neurological symptoms, or family history of TTP
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Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0150
Frequently Asked Questions (FAQ's):
What is the purpose of the ADAMTS13 Gene Panel?
It detects pathogenic variants in the ADAMTS13 gene to diagnose hereditary TTP and assist in clinical decision-making.
Who should consider this test?
Individuals with recurrent TTP episodes, persistent low platelet count, hemolytic anemia, or strong family history.
What type of sample is required?
EDTA whole blood.
How long does the report take?
Typically 2–4 weeks.
Can this test help in treatment planning?
Yes. Identifying hereditary vs. acquired TTP helps determine long-term therapy, monitoring frequency, and family screening.