HbE (Hemoglobin E) Mutation Screening [Prenatal] Test
Short Name: HbE Prenatal Screening
Also known as: HbE Mutation Analysis, Prenatal HbE Screening, Hemoglobin E Genetic Test
HbE (Hemoglobin E) Mutation Screening [Prenatal] Test test available at DNA Labs India for ₹6,000. Uses End Point PCR on Amniotic fluid / Chorionic villi / Cord blood samples. Results in Results are typically available within 3-4 days after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of HbE prenatal screening is to determine whether the fetus has inherited the HbE mutation from one or both parents. This information is vital for assessing the risk of hemoglobin E disorders, including hemoglobin E trait, hemoglobin E disease, and hemoglobin E beta-thalassemia. Early detection allows parents to make informed reproductive choices and prepare for potential medical needs of the child.
- Test Code
- 6107
- CPT Code
- 81479
- ICD Code
- Z13.0
- Price
- ₹6,000
- Sample Type
- Amniotic fluid / Chorionic villi / Cord blood
- Result Time
- Results are typically available within 3-4 days after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- End Point PCR
Sample Collection
A doctor's prescription is required for this test. For pregnant women, the procedure is performed by a qualified obstetrician. No fasting is required. Inform your doctor about any medications or supplements you are taking.
Method: Amniocentesis / CVS / Cordocentesis by specialist
Laboratory Analysis
The sample is collected via amniocentesis, chorionic villus sampling (CVS), or cordocentesis. The procedure is performed under ultrasound guidance to ensure safety. You may experience mild discomfort or cramping.
Report Delivery
After the procedure, rest for a short period. Avoid strenuous activities for 24 hours. Contact your doctor if you experience fever, bleeding, or severe pain. Results are typically available within 3-4 days.
Timeline: Results are typically available within 3-4 days after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of HbE prenatal screening is to determine whether the fetus has inherited the HbE mutation from one or both parents. This information is vital for assessing the risk of hemoglobin E disorders, including hemoglobin E trait, hemoglobin E disease, and hemoglobin E beta-thalassemia. Early detection allows parents to make informed reproductive choices and prepare for potential medical needs of the child.
How to Prepare
- Sample must be collected in a sterile container or EDTA vacutainer as specified
- Amniotic fluid: 10-20 ml; Chorionic villi: 10-20 mg; Cord blood: 2 ml
- Do not freeze the sample; maintain at room temperature or cool pack
- Label the sample with patient name, date, and time of collection
- Transport to the laboratory within 24 hours
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Prenatal screening for HbE is crucial for couples at risk of hemoglobinopathies. Early detection allows informed reproductive decisions and timely management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Sample received after 48 hours without proper storage
- Unlabeled or mislabeled sample
- Insufficient sample volume
Understanding Your Results
Negative
No HbE mutation detected. Fetus is not affected by HbE disorder.
Heterozygous (HbE trait)
One copy of HbE mutation. Usually asymptomatic or mild anemia. No severe clinical implications.
Homozygous (HbE disease)
Two copies of HbE mutation. May cause mild to moderate anemia, jaundice, and splenomegaly. Requires clinical monitoring.
Compound heterozygous (HbE/beta-thalassemia)
One HbE mutation and one beta-thalassemia mutation. This can cause severe anemia requiring lifelong management.
Consult your obstetrician or genetic counselor to discuss the results and their implications for your pregnancy. If the fetus is affected, a multidisciplinary team including a hematologist and pediatrician should be involved for postnatal care planning.
Limitations
- ⚠Test detects only HbE mutation; other hemoglobinopathies are not covered
- ⚠Results should be interpreted in conjunction with parental genetic testing
- ⚠Invasive sampling carries a small risk of miscarriage (0.5-1%)
- ⚠Test may not detect rare variants or deletions in the beta-globin gene
Risks & Considerations
- ●Miscarriage (0.5-1% for amniocentesis/CVS)
- ●Infection at the puncture site
- ●Bleeding or cramping
- ●Leakage of amniotic fluid (rare)
Interfering Factors
- ●Maternal blood contamination in amniotic fluid sample
- ●Insufficient fetal DNA quantity
- ●Sample degradation due to improper storage or transport
- ●Contamination during collection or handling
Compare With Similar Tests
| Test | HbE (Hemoglobin E) Mutation Screening [Prenatal] | Beta-Thalassemia Mutation Screening | Sickle Cell Anemia Screening | Alpha-Thalassemia Screening | Non-Invasive Prenatal Testing (NIPT) |
|---|---|---|---|---|---|
| Comparison | HbE (Hemoglobin E) Mutation Screening [Prenatal] | Detects mutations in the beta-globin gene causing beta-thalassemia. HbE is a variant of beta-globin; both can be detected in a comprehensive panel. | Detects HbS mutation. HbE and HbS are different variants; both can be tested separately or in a combined panel. | Detects deletions/mutations in alpha-globin genes. HbE is a beta-globin variant, so this test is not relevant for HbE. | Screens for chromosomal aneuploidies, not single-gene disorders like HbE. Not a substitute for HbE mutation testing. |
Frequently Asked Questions
What is the cost of HbE Mutation Screening [Prenatal] at DNA Labs India?
What sample is required for this prenatal test?
Is fasting required before the test?
How long does it take to get the results?
Is a doctor's prescription necessary?
What does a positive HbE mutation result mean?
Can this test be done for both partners before pregnancy?
Is home sample collection available?
What is the accuracy of this test?
Are there any risks to the fetus during sample collection?
Can this test detect other hemoglobinopathies?
What should I do if the result is positive?
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