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Accurate Test Results for TRNT1 Gene Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay NGS Genetic DNA Test
TRNT1 Gene Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay NGS Genetic DNA Test Cost 20000 Rs
TRNT1 Gene Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay NGS Genetic DNA Test Details
TRNT1 Gene Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay NGS Genetic DNA Test
Sideroblastic anemia is a blood disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. It is called "sideroblastic" because the iron that is normally used to make hemoglobin accumulates in the mitochondria of red blood cell precursors in the bone marrow, forming "ringed sideroblasts." This leads to a decrease in the number of functional red blood cells and a decrease in the amount of oxygen that can be carried in the blood.
B-cell immunodeficiency is a condition in which the immune system is unable to produce enough B cells, which are white blood cells that produce antibodies to fight off infections. This can lead to recurrent infections, particularly of the respiratory tract.
Periodic fevers are episodes of fever that recur at regular intervals, often accompanied by other symptoms such as joint pain and rash. These can be caused by a number of different genetic disorders.
Developmental delay is a term used to describe a child who is slower to reach developmental milestones than expected. This can include delays in motor skills, language, and socialization.
The TRNT1 gene is responsible for producing a protein called tRNA nucleotidyltransferase, which is involved in the synthesis of transfer RNA (tRNA), a type of RNA molecule that helps decode the genetic information in DNA and bring amino acids to the ribosome to be assembled into proteins. Mutations in the TRNT1 gene can lead to a variety of different disorders, including sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay.
Symptoms of TRNT1 Gene Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay
The symptoms of TRNT1 gene sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay can vary widely depending on the specific genetic mutation involved. However, common symptoms may include:
- Weakness and fatigue
- Pale skin
- Shortness of breath
- Frequent infections
- Fever
- Joint pain
- Rash
- Delayed motor skills
- Delayed language development
- Delayed socialization
Diagnosis of TRNT1 Gene Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay
Diagnosis of TRNT1 gene sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay typically involves a combination of clinical evaluation, blood tests, genetic testing, and imaging studies. Blood tests may show low levels of hemoglobin and red blood cells, as well as low levels of B cells and antibodies. Genetic testing can confirm the presence of a mutation in the TRNT1 gene.
NGS Genetic DNA Test Cost
The cost of NGS genetic DNA testing for TRNT1 gene sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay varies depending on the specific testing laboratory and the extent of the genetic analysis performed. However, the average cost for this type of testing in India is around INR 20,000.
Conclusion
TRNT1 gene sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay is a rare genetic disorder that can cause a variety of symptoms, including anemia, recurrent infections, periodic fevers, and developmental delays. Diagnosis typically involves a combination of clinical evaluation, blood tests, genetic testing, and imaging studies. NGS genetic DNA testing for this disorder is available in India at an average cost of INR 20,000.
If you or someone you know is experiencing symptoms of TRNT1 gene sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, it is important to seek medical attention as soon as possible to receive an accurate diagnosis and appropriate treatment.
For more information on genetic testing and other medical services, please visit DNA Labs India.
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