Short Description

NGS genetic DNA test detecets for variant and mutation detection in SPTA1 gene for Spherocytosis type 3

PreTest Information

Clinical History of Patient who is going for SPTA1 Gene Spherocytosis type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SPTA1 Gene Spherocytosis type 3 NGS Genetic DNA Test gene SPTA1

Detail Description

SPTA1 Gene Spherocytosis Type 3 NGS Genetic DNA Test

Spherocytosis is a type of hemolytic anemia that is characterized by the presence of spherocytes in the blood. These spherocytes are abnormally shaped red blood cells that are more likely to be destroyed by the body's immune system. Spherocytosis can be caused by mutations in various genes, including the SPTA1 gene.

The SPTA1 gene provides instructions for making a protein called alpha-spectrin, which is a key component of the red blood cell membrane. Mutations in the SPTA1 gene can lead to the production of a faulty alpha-spectrin protein, which can cause the red blood cells to become more fragile and prone to destruction.

Symptoms of Spherocytosis Type 3

Spherocytosis type 3 is a rare form of spherocytosis that is caused by mutations in the SPTA1 gene. Symptoms of spherocytosis type 3 can include:

• Anemia
• Fatigue
• Pallor
• Icterus (yellowing of the skin and eyes)
• Splenomegaly (enlarged spleen)

Diagnosis of Spherocytosis Type 3

Diagnosis of spherocytosis type 3 can involve a variety of tests, including a physical exam, blood tests, and genetic testing. Genetic testing can identify mutations in the SPTA1 gene that are associated with spherocytosis type 3.

NGS Genetic DNA Test for Spherocytosis Type 3

NGS (Next Generation Sequencing) Genetic DNA testing is a powerful tool for identifying genetic mutations associated with spherocytosis type 3. This type of testing uses advanced DNA sequencing technology to rapidly and accurately analyze large amounts of DNA. NGS genetic DNA testing can detect mutations in the SPTA1 gene that are associated with spherocytosis type 3.

Cost of SPTA1 Gene Spherocytosis Type 3 NGS Genetic DNA Test in India

The cost of the SPTA1 Gene Spherocytosis Type 3 NGS Genetic DNA Test in India is approximately INR 20,000. This cost may vary depending on the testing facility and other factors.

Conclusion

Spherocytosis type 3 is a rare form of spherocytosis that is caused by mutations in the SPTA1 gene. Symptoms of spherocytosis type 3 can include anemia, fatigue, pallor, icterus, and splenomegaly. Diagnosis of spherocytosis type 3 can involve a variety of tests, including genetic testing. NGS Genetic DNA testing is a powerful tool for identifying genetic mutations associated with spherocytosis type 3. The cost of the SPTA1 Gene Spherocytosis Type 3 NGS Genetic DNA Test in India is approximately INR 20,000.

If you suspect that you or a loved one may have spherocytosis type 3, it is important to speak with a healthcare professional. They can help you determine the best course of action and recommend appropriate testing.

At DNA Labs India, we provide comprehensive genetic testing services, including NGS Genetic DNA testing for spherocytosis type 3. Contact us today to learn more.