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Sickle Cell Anemia Trio Prenatal Mutation Detection Test

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Sickle Cell Anemia Trio Prenatal Mutation Detection Test

Short Name: SCA Trio Prenatal Test

Also known as: SCA Trio Prenatal Test, HBB Gene Trio Prenatal Mutation Detection, Sickle Cell Prenatal Mutation Detection Test

Sickle Cell Anemia Trio Prenatal Mutation Detection Test test available at DNA Labs India for ₹13,000. Uses PCR, Sequencing on Whole blood (both parents) and amniotic fluid (fetus) samples. Results in Reports are generally issued Friday when samples are received by Monday 11 am.. Free home collection in 300+ cities across India.

HematologistFetus and Parents🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect HBB gene mutations linked to sickle cell anemia in the fetus using amniotic fluid, with simultaneous parental blood analysis. This helps confirm whether the fetus has inherited a sickle cell mutation, is a carrier, or has two pathogenic HBB mutations. It also supports informed reproductive decision-making and early medical planning.

Test Code
3640
Price
₹13,000
Sample Type
Whole blood (both parents) and amniotic fluid (fetus)
Result Time
Reports are generally issued Friday when samples are received by Monday 11 am.
Fasting Required
No
Method
PCR, Sequencing
Step 1

Sample Collection

No fasting is required. Please complete the mandatory Prenatal Genetic Testing Consent Form (Form 18) and Genomics Clinical Information Requisition Form (Form 20). Inform your doctor about any recent blood transfusion or bone marrow transplant.

Method: Peripheral blood draw and amniocentesis

Step 2

Laboratory Analysis

Blood samples will be collected from both parents in lavender top EDTA tubes. Amniotic fluid will be collected by the obstetrician under ultrasound guidance in a sterile screw-capped container.

Step 3

Report Delivery

The amniotic fluid and blood samples should be kept refrigerated and transported to the laboratory promptly. Do not freeze the samples.

Timeline: Reports are generally issued Friday when samples are received by Monday 11 am.

Patient Instructions

1
Before the Test:Complete the mandatory forms and share relevant clinical and family history with your doctor. No fasting is needed.
2
During the Test:The mother undergoes amniocentesis under ultrasound guidance while blood is drawn from both parents. The procedure is performed by an experienced obstetrician.
3
After the Test:Follow your doctor's instructions regarding activity and monitoring after amniocentesis. The samples should be kept refrigerated and transported to the laboratory as per instructions.

About This Test

Who Should Get This Test

The purpose of this test is to detect HBB gene mutations linked to sickle cell anemia in the fetus using amniotic fluid, with simultaneous parental blood analysis. This helps confirm whether the fetus has inherited a sickle cell mutation, is a carrier, or has two pathogenic HBB mutations. It also supports informed reproductive decision-making and early medical planning.

How to Prepare

  • Duly filled Prenatal Genetic testing Consent Form (Form 18) and Genomics Clinical information requisition form (Form 20) are mandatory.
  • Ship refrigerated. DO NOT FREEZE.
  • Amniotic fluid must be transported in a sterile screw-capped container.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"For at-risk couples, a trio prenatal test provides a complete view of inherited HBB variants. It should always be accompanied by genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood (both parents) and amniotic fluid (fetus)
Sample VolumeBlood: 4 mL (2 mL min.) per parent; Amniotic fluid: 10 mL (5 mL min.)
ContainerLavender top (EDTA) tubes for blood; Sterile screw-capped container for amniotic fluid
Collection MethodPeripheral blood draw and amniocentesis

Sample Stability

Whole blood - Room Temperature: 6 hours; Refrigerator: 1 week; Frozen: Not acceptable
Amniotic fluid - Ship refrigerated; DO NOT FREEZE
Sample Rejection Criteria:
  • Incomplete or missing consent and clinical information forms
  • Frozen amniotic fluid sample
  • Grossly hemolyzed or clotted blood samples
  • Leaking or unlabeled amniotic fluid container
  • Insufficient sample volume

Understanding Your Results

The test report should be interpreted by the referring obstetrician/gynecologist and a clinical geneticist. Results are provided as a molecular genetic report and do not replace formal genetic counseling.
📊

Negative for the HBB sickle cell variant in the tested fetal sample. Residual risk remains low but not zero; genetic counseling is advised.

📊

Fetus may have sickle cell trait/carrier status. This is usually not associated with sickle cell disease but requires genetic counseling.

📊

Fetus is likely to have sickle cell disease. Timely referral to pediatric hematology and genetic counseling is essential.

⚠️ When to Consult a Doctor:

Please consult a clinical geneticist or maternal-fetal medicine specialist after receiving the report for complete interpretation, risk assessment, and pregnancy management planning.

Limitations

  • ⚠This test detects mutations in the HBB gene evaluated in this assay and may not identify all rare or novel beta-globin variants.
  • ⚠A negative result does not rule out sickle cell disease caused by very rare variants not covered by this test.
  • ⚠Maternal cell contamination testing reduces, but cannot completely exclude, the risk of sample mix-up or contamination.
  • ⚠This test does not detect other hemoglobinopathies or non-HBB genetic disorders.
  • ⚠Genetic counseling is mandatory before and after testing for proper understanding of the results.

Risks & Considerations

  • ●Amniocentesis-related risks include leakage of amniotic fluid, cramping, spotting, and rare infection or miscarriage.
  • ●Blood collection risks include local bruising, bleeding, or infection at the puncture site.

Interfering Factors

  • ●Maternal cell contamination of amniotic fluid
  • ●Recent maternal blood transfusion
  • ●Prior bone marrow transplantation in a parent
  • ●Poor DNA quality due to improper storage or transport
  • ●Rare or atypical HBB gene variants not covered by the assay

Compare With Similar Tests

TestSickle Cell Anemia Trio Prenatal Mutation Detection Test
ComparisonSickle Cell Anemia Trio Prenatal Mutation Detection Test

Frequently Asked Questions

What is the Sickle Cell Anemia Trio Prenatal Mutation Detection Test?
It is a prenatal genetic test that examines the HBB gene in the fetus using amniotic fluid and correlates it with both parents' blood samples to detect sickle cell anemia-associated mutations.
Who should consider this test?
Couples who are known carriers of the sickle cell gene, have a family history of sickle cell anemia, or had a previous child with sickle cell disease. It is also used in an ongoing pregnancy to clarify fetal HBB status.
What samples are required for this test?
4 mL (2 mL min) whole blood from each parent in lavender top EDTA tubes and 10 mL (5 mL min) amniotic fluid in a sterile screw-capped container. Samples should be refrigerated during transport and not frozen.
Is fasting required before sample collection?
No, fasting is not required for this molecular genetic test. However, the mandatory Prenatal Genetic Testing Consent Form (Form 18) and Genomics Clinical Information Requisition Form (Form 20) must be completed.
What is the cost of this test?
The special discounted price is INR 13,000 at DNA Labs India. Free home sample collection is available for online bookings in many cities across India.
When will I get the test report?
When samples are received by Monday 11 am, reports are generally issued that Friday. Turnaround time may vary based on location and courier delay.
Why is maternal cell contamination check included?
Amniotic fluid can be contaminated by maternal cells. The maternal cell contamination check helps confirm that the tested DNA is fetal in origin, increasing the reliability of the prenatal genetic result.
Can this test detect all forms of sickle cell disease?
This test detects mutations in the HBB gene that are linked to sickle cell anemia, especially the HbS variant. Rare or atypical beta-globin variants may not be detected by this assay, so genetic counseling is essential.
What do the test results mean?
If no HBB mutation is detected, the fetus is less likely to have sickle cell disease. A heterozygous mutation may indicate sickle cell trait, while biallelic pathogenic mutations indicate sickle cell disease. A doctor or genetic counselor should interpret the report.
Does a negative result guarantee a healthy baby?
No. This test only evaluates the HBB gene for sickle cell anemia. It does not screen for other genetic, congenital, or medical conditions. All pregnancies should continue with routine prenatal care.
What are the risks of amniocentesis?
Amniocentesis carries a small risk of amniotic fluid leakage, cramping, spotting, infection, or miscarriage. The procedure is performed by an experienced obstetrician with ultrasound guidance.
Is this test covered by insurance or government schemes?
Insurance coverage varies. Under PMJAY, CGHS, ECHS, and ESIC it may not be routinely covered. Private insurance coverage depends on the policy. Please confirm with your insurance provider and the lab before testing.
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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