Beta-Thalassemia HBB gene mutation by PCR Sequencing with Maternal cell Contamination (MCC) in Botad
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Pre Instructions
Recommended by Health Experts
NABL Accredited Labs
Age Group 05-90 years
Recommended for Men, Women
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Beta-Thalassemia (Targeted) - 17 genetic By Sanger1
FAQ
How is Beta-Thalassemia inherited?
Beta-thalassemia is inherited in an autosomal recessive pattern, meaning a child needs to inherit one mutated gene from each parent to develop the condition. Carriers (with one mutated gene) usually do not show symptoms but can pass the gene to their children.
What is the significance of checking for Maternal Cell Contamination (MCC)?
MCC assessment is crucial to ensure the accuracy of the test by confirming that the DNA analysed is purely from the fetus, not mixed with the mother's DNA.
Does Beta-Thalassemia affect males and females equally?
Yes, Beta-Thalassemia affects males and females equally. Since it is a genetic disorder inherited in an autosomal recessive manner, it does not preferentially affect one gender. The likelihood of developing the condition or being a carrier depends on the parent's genetic makeup, not the individual's gender.
How can this test benefit expectant parents?
It helps in the early detection of Beta-Thalassemia in the fetus, allowing for informed decisions and better preparedness for managing the condition post-birth.
What age group is Beta-Thalassemia usually found in?
Beta-thalassemia major often presents in infancy or early childhood, typically within the first two years of life. Beta-thalassemia intermedia may appear in early childhood or adolescence. Beta-thalassemia minor is often asymptomatic and may be undiagnosed until adulthood or never diagnosed.
What are the symptoms of Beta-Thalassemia?
The symptoms of Beta-Thalassemia vary depending on its type. Common signs include fatigue, weakness, pale skin, facial bone deformities, slow growth, abdominal swelling, and dark urine. In severe cases, symptoms may include delayed growth and development and complications like iron overload, bone deformities, and spleen enlargement.
What other packages does Sterling Accuris offer?
Sterling Accuris offers a range of packages including Senior citizen (male and female) package, healthy heart profile, diabetes profile, vitamin profile, covid immunity package and much more. Visit our website to learn more about these packages.
What makes Sterling Accuris a better pathology lab than others?
For us, precision care, safe sample collection, timely delivery of reports, and precise reporting of patient results while adhering to health and safety precautions are the cornerstone of our success.
Do you provide home visit/collection service?
Yes. We do provide home collection services at your doorstep.
Please go ahead and book your visit today from our top menu options in this website / chat or do call us on 812 813 0000.
How long does it take to receive test results?
Though most tests are completed and reported within about 24 hours of receiving the sample for testing, certain tests take several days to weeks.
Your soft copy will be sent on registered email id and Whatsapp. Also, you will receive SMS with link to download your report. Also, your report is available on our website / app.
To know the status of the report, you can call our customer care team on 812 813 0000.
Is there any preparation or precautions for patient before tests or body checkup?
Fasting maybe required in case of a few tests to ensure accurate results.
In general, it is also advisable to abstain from alcohol and heavy diet at least for 24 hours before any health test. You can see the requirement for each test on the product page on our website / app.
Beta-Thalassemia HBB gene Sequencing with Maternal cell Contamination (MCC) - Prenatal in Botad
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Sterling Accuris Diagnostics introduces the Beta-Thalassemia HBB Gene Sequencing with Maternal Cell Contamination (MCC) -test in Botad, a specialised prenatal diagnostic service.
Overview of the Beta-Thalassemia HBB Gene Sequencing with MCC - Prenatal
Beta-thalassemia is a blood disorder caused by mutations in the HBB gene, affecting haemoglobin production. Beta-globin gene (HBB) sequencing is used to identify various forms of beta-thalassemia, a blood disorder that reduces haemoglobin levels and leads to anaemia. Beta-thalassemia is categorised into three primary forms:
- Major: Cooley's anaemia, Mediterranean anaemia, or transfusion-dependent thalassemia (TDT).
- Intermedia.
- Minor: Also called β-thalassemia carrier, β-thalassemia trait, or heterozygous β-thalassemia.
The Beta-Thalassemia HBB Gene Sequencing with Maternal Cell Contamination (MCC) -test in Botad includes an assessment for Maternal Cell Contamination (MCC). To ensure accuracy, they use 7 STR markers linked to the β-globin gene (HBB) to ensure the fetal DNA being tested is not contaminated with maternal DNA, which can skew results. The analysis can be done using Sanger sequencing for precise reading of specific gene segments, while Next-Generation Sequencing allows for comprehensive analysis of the entire gene.
Why and When is the Beta-Thalassemia HBB Gene Sequencing with MCC - Prenatal Done?
This test is recommended for:
- Expectant mothers with a family history of Beta-Thalassemia.
- Couples who are known carriers of Beta-Thalassemia mutations.
- Previous screenings indicate a risk of the fetus having Beta-Thalassemia.
Beta-Thalassemia HBB Gene Sequencing with MCC - Prenatal: Main Highlights
- Instructions: A doctor’s prescription is suggested.
- Recommended Stage: Typically conducted during the second trimester, but consult with your healthcare provider for the best timing.
- Sample Type for Test: Blood collected in EDTA tubes, amniotic fluid or chorionic villi sampling collected in some cases
- TAT: Results are usually available within 2-3 weeks.
Choosing Sterling Accuris Diagnostics in Botad for Prenatal Testing At Sterling Accuris Diagnostics, we provide advanced prenatal testing services with utmost precision and care. Our NABL-accredited lab and skilled technicians ensure the reliability of test results. Opt for our specialised services in Botad for comprehensive prenatal care.
Book your Beta-Thalassemia HBB Gene Sequencing with MCC - Prenatal test in Botad for trusted and accurate prenatal diagnostics.
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