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DNA Labs India

Beta Thalassemia-HBB Full Gene Analysis (Single) Test

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Beta Thalassemia-HBB Full Gene Analysis (Single) Test

Short Name: HBB Full Gene Analysis

Also known as: Beta Thalassemia Gene Test, HBB Mutation Analysis, Beta Globin Gene Sequencing

Beta Thalassemia-HBB Full Gene Analysis (Single) Test test available at DNA Labs India for ₹7,500. Uses Sanger Sequencing on Peripheral blood samples. Results in Reports are typically delivered within 8-10 working days after the sample is received by the laboratory.. Free home collection in 300+ cities across India.

Molecular Genetics🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The primary purpose of the Beta Thalassemia-HBB Full Gene Analysis is to identify pathogenic variants in the HBB gene that cause beta thalassemia. This test is essential for confirming a clinical diagnosis, determining carrier status, and providing information for genetic counseling. It helps in differentiating beta thalassemia from other hemoglobinopathies and aids in assessing the severity of the disease. For couples at risk, the test results guide reproductive options, including prenatal diagnosis. Additionally, it is valuable for population screening programs aimed at reducing the burden of thalassemia in India.

Test Code
6057
CPT Code
81479
ICD Code
D56.1
Price
₹7,500
Sample Type
Peripheral blood
Result Time
Reports are typically delivered within 8-10 working days after the sample is received by the laboratory.
Fasting Required
No
Method
Sanger Sequencing
Step 1

Sample Collection

No special preparation is required. A doctor's prescription is recommended. Inform your physician about any recent blood transfusions or bone marrow transplants.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm. The procedure is quick and causes minimal discomfort.

Step 3

Report Delivery

You can resume normal activities immediately. There are no restrictions after the test.

Timeline: Reports are typically delivered within 8-10 working days after the sample is received by the laboratory.

Patient Instructions

1
Before the Test:No special preparation is needed. However, it is important to provide a detailed medical and family history to the genetic counselor.
2
During the Test:A simple blood draw is performed. The process takes about 5 minutes.
3
After the Test:You may experience minor bruising at the puncture site, which is normal. Results will be available in 8-10 days.

About This Test

Who Should Get This Test

The primary purpose of the Beta Thalassemia-HBB Full Gene Analysis is to identify pathogenic variants in the HBB gene that cause beta thalassemia. This test is essential for confirming a clinical diagnosis, determining carrier status, and providing information for genetic counseling. It helps in differentiating beta thalassemia from other hemoglobinopathies and aids in assessing the severity of the disease. For couples at risk, the test results guide reproductive options, including prenatal diagnosis. Additionally, it is valuable for population screening programs aimed at reducing the burden of thalassemia in India.

How to Prepare

  • Use EDTA vacutainer for blood collection.
  • Transport the sample in a cool pack to the laboratory.
  • Avoid hemolysis by gentle mixing of the tube.
  • Ensure the sample reaches the lab within 24 hours.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Beta thalassemia is one of the most common autosomal recessive disorders in India. Early genetic diagnosis is crucial for management and prevention. This test provides definitive information about HBB gene mutations, enabling accurate carrier detection and informed reproductive decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral blood
Sample Volume2 ml
ContainerEDTA Vacutainer
Collection MethodVenipuncture

Sample Stability

Whole blood in EDTA: stable for 48 hours at 2-8°C
Extracted DNA: stable for 1 year at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect anticoagulant tube
  • Sample received after 72 hours without proper storage
  • Mislabeled or unlabeled sample

Understanding Your Results

The interpretation of the HBB gene analysis is based on the presence or absence of pathogenic variants. A negative result significantly reduces the likelihood of beta thalassemia, but does not exclude rare deep intronic mutations or large deletions. If a variant is identified, its clinical significance is determined based on established databases and ACMG guidelines.
📊

No pathogenic variant detected

Negative for beta thalassemia-causing mutations in the HBB gene. Clinical correlation is advised.

📊

Heterozygous pathogenic variant

Indicates carrier status (beta thalassemia trait). Usually asymptomatic or mild microcytic anemia.

📊

Homozygous or compound heterozygous pathogenic variants

Indicates beta thalassemia major or intermedia. Requires clinical management and genetic counseling.

📊

Variant of uncertain significance (VUS)

Further testing of family members may be needed to clarify pathogenicity.

⚠️ When to Consult a Doctor:

Consult a geneticist or hematologist if you have symptoms suggestive of thalassemia, a family history, or if you are planning a pregnancy and belong to a high-risk community. Also, seek medical advice if you have been diagnosed as a carrier and need guidance on reproductive options.

Limitations

  • ⚠This test detects mutations in the HBB gene only; other genes causing similar phenotypes are not analyzed.
  • ⚠Large deletions or rearrangements may not be detected by Sanger sequencing.
  • ⚠Variants of uncertain significance may require further family studies.
  • ⚠The test does not assess the severity of the disease phenotype, which can be influenced by other genetic and environmental factors.

Risks & Considerations

  • ●Minimal risk of bleeding or hematoma at the venipuncture site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Recent blood transfusion within the last 2 weeks may dilute the patient's own DNA, affecting mutation detection.
  • ●Bone marrow transplantation can lead to chimerism, complicating interpretation.
  • ●Contamination of sample with foreign DNA during collection or handling.
  • ●Insufficient DNA quantity or quality due to improper storage or transport.

Compare With Similar Tests

TestBeta Thalassemia-HBB Full Gene Analysis (Single)Hemoglobin ElectrophoresisHPLCComplete Blood Count (CBC)Beta Thalassemia Carrier Screening (Osmotic Fragility)
ComparisonBeta Thalassemia-HBB Full Gene Analysis (Single)

Frequently Asked Questions

What is Beta Thalassemia?
Beta Thalassemia is a genetic blood disorder characterized by reduced or absent production of beta-globin chains, leading to anemia and other complications.
How is Beta Thalassemia inherited?
It is inherited in an autosomal recessive pattern. A child must inherit two mutated HBB genes (one from each parent) to have the disease.
What does the HBB Full Gene Analysis test detect?
It detects mutations in the HBB gene that cause beta thalassemia, including point mutations and small insertions/deletions.
Who should get this test?
Individuals with symptoms of thalassemia, those with a family history, and couples planning pregnancy, especially in high-risk communities.
Is fasting required for this test?
No, fasting is not required. You can eat and drink normally before the test.
What sample is needed?
A peripheral blood sample (2 ml) collected in an EDTA vacutainer.
How long does it take to get results?
Results are typically available within 8-10 days after the sample is received.
Can this test be done during pregnancy?
Yes, but a doctor's prescription is required. It is not recommended for surgery or pregnancy cases without prescription.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant. It may mean you are a carrier or have beta thalassemia, depending on the number of mutations.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across many cities in India.
What is the cost of the test?
The test costs INR 7500, which includes all laboratory fees and analysis.
Will insurance cover this test?
Coverage varies by insurance provider. Please check with your insurer for genetic testing coverage.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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