Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALAS2 gene for Anemia, sideroblastic, X-linked

PreTest Information

Clinical History of Patient who is going for ALAS2 Gene Anemia, sideroblastic, X-linked NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ALAS2 Gene Anemia, sideroblastic, X-linked NGS Genetic DNA Test gene ALAS2

Detail Description

ALAS2 Gene Anemia: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

ALAS2 gene anemia is a rare genetic disorder that affects the production of red blood cells. It is also known as sideroblastic anemia and is inherited in an X-linked pattern. This means that the gene mutation responsible for the disorder is located on the X chromosome.

The ALAS2 gene provides instructions for making an enzyme called delta-aminolevulinic acid synthase 2. This enzyme is essential for the production of heme, which is a component of hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.

Symptoms of ALAS2 Gene Anemia

The symptoms of ALAS2 gene anemia can vary from person to person and may include:

• Fatigue
• Weakness
• Shortness of breath
• Paleness
• Jaundice
• Enlarged spleen
• Heart palpitations

Some people with ALAS2 gene anemia may also have developmental delays, intellectual disability, or other neurological problems.

Diagnosis of ALAS2 Gene Anemia

ALAS2 gene anemia is diagnosed through a combination of physical examination, blood tests, and genetic testing. Blood tests may show low levels of hemoglobin and an increased number of immature red blood cells. Genetic testing can confirm the presence of a mutation in the ALAS2 gene.

NGS Genetic DNA Test Cost in India

NGS genetic DNA testing is a highly accurate and sensitive method for identifying genetic mutations. The cost of NGS genetic DNA testing for ALAS2 gene anemia in India is approximately INR 20,000.

NGS genetic DNA testing is a non-invasive procedure that involves collecting a sample of DNA from a person's blood or saliva. The DNA sample is then analyzed for mutations in the ALAS2 gene. This type of testing is highly accurate and can detect mutations that may not be detected by other methods.

Conclusion

ALAS2 gene anemia is a rare genetic disorder that can cause a range of symptoms, including fatigue, weakness, and shortness of breath. It is diagnosed through a combination of physical examination, blood tests, and genetic testing. NGS genetic DNA testing is a highly accurate and sensitive method for identifying mutations in the ALAS2 gene and is available in India for approximately INR 20,000.