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Prenatal Hemophilia A Common Mutation Screening (Factor VIII Intron 22 and Intron 1 Inversion Analysis) Test

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Prenatal Hemophilia A Common Mutation Screening (Factor VIII Intron 22 and Intron 1 Inversion Analysis) Test

Also known as: Factor VIII Intron 22 and Intron 1 Inversion Analysis

Prenatal Hemophilia A Common Mutation Screening (Factor VIII Intron 22 and Intron 1 Inversion Analysis) Test test available at DNA Labs India for ₹15,000. Uses End Point PCR on Peripheral blood, Amniotic Fluid, Chorionic villi, Cord blood samples. Results in 10-11 days. Free home collection in 300+ cities across India.

Genetic ScreeningFemalePrenatal🏠 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 screen for common mutations causing Hemophilia A in fetuses, enabling early diagnosis, genetic counseling, and appropriate prenatal management.

Test Code
3171
Price
₹15,000
Sample Type
Peripheral blood, Amniotic Fluid, Chorionic villi, Cord blood
Result Time
10-11 days
Fasting Required
No
Method
End Point PCR
Step 1

Sample Collection

A doctor's prescription may be required, except for pregnancy cases. Ensure proper identification and consent.

Step 2

Laboratory Analysis

Sample collection should be performed by a trained professional using sterile techniques.

Step 3

Report Delivery

Label the sample correctly and transport to the lab under appropriate conditions.

Timeline: 10-11 days

Patient Instructions

1
Before the Test:Ensure doctor's prescription if required. Discuss risks and benefits with healthcare provider.
2
During the Test:Sample collection procedure as per standard protocols.
3
After the Test:Wait for results and follow up with genetic counseling.

About This Test

Who Should Get This Test

The purpose of this test is to screen for common mutations causing Hemophilia A in fetuses, enabling early diagnosis, genetic counseling, and appropriate prenatal management.

How to Prepare

  • Use sterile containers for amniotic fluid and chorionic villi.
  • For blood samples, use EDTA vacutainer.
  • Ensure proper labeling with patient details.

Doctor's Notes

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

"This test is crucial for early detection of hemophilia A in fetuses, allowing for informed decision-making during pregnancy and timely medical interventions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral blood, Amniotic Fluid, Chorionic villi, Cord blood
ContainerSterile container, Sterile Normal Saline Container, EDTA Vacutainer (2ml)

Sample Stability

Blood samples: stable for 24 hours at room temperature.
Amniotic fluid: stable for 48 hours refrigerated.
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of Factor VIII Intron 22 and Intron 1 inversions.
📊

Detected

Mutation present, indicating high risk for Hemophilia A in the fetus. Consult a genetic counselor for further evaluation.

📊

Not Detected

Mutation not detected, but other mutations may be present. Further testing may be recommended based on clinical context.

⚠️ When to Consult a Doctor:

Consult a genetic counselor or hematologist if mutations are detected or if there is a family history of bleeding disorders.

Limitations

  • ⚠This test only screens for Intron 22 and Intron 1 inversions; other mutations may not be detected.
  • ⚠False negatives or positives are possible but rare.
  • ⚠Results should be interpreted in conjunction with clinical findings and family history.

Risks & Considerations

  • ●For blood samples: minimal risk of bruising or infection.
  • ●For amniocentesis or CVS: risk of miscarriage or infection.

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage
  • ●Maternal cell contamination in fetal samples

Compare With Similar Tests

TestPrenatal Hemophilia A Common Mutation Screening (Factor VIII Intron 22 and Intron 1 Inversion Analysis)AmniocentesisChorionic Villus Sampling
ComparisonPrenatal Hemophilia A Common Mutation Screening (Factor VIII Intron 22 and Intron 1 Inversion Analysis)More invasive but can detect a wider range of genetic disorders.Invasive procedure with higher risk but earlier detection.

Frequently Asked Questions

What is Prenatal Hemophilia A Common Mutation Screening?
It is a genetic test that screens for specific mutations in the Factor VIII gene, namely Intron 22 and Intron 1 inversions, which are common causes of Hemophilia A.
Who should consider this test?
Pregnant women with a family history of Hemophilia A, known carriers of the gene, or those with a previous child diagnosed with Hemophilia A.
How is the test performed?
The test is performed using a blood sample from the mother, or in some cases, amniotic fluid, chorionic villi, or cord blood, and analyzed using End Point PCR.
At what stage of pregnancy can the test be done?
The test can be done as early as 10 weeks into the pregnancy.
What are the risks of the test?
For blood samples, risks are minimal, such as bruising. For invasive samples like amniocentesis, there is a small risk of miscarriage or infection.
How accurate is the test?
The test is highly accurate for detecting the specified inversions, but it may not detect all mutations causing Hemophilia A.
What do the results mean?
A 'Detected' result indicates the presence of a mutation, suggesting the fetus may have Hemophilia A. 'Not Detected' means the specific mutations were not found.
How long does it take to get results?
Results are typically available within 10-11 days.
Is the test covered by insurance?
Coverage depends on the insurance plan. It is advisable to check with your provider.
Can the test detect all types of Hemophilia A mutations?
No, this test specifically screens for Intron 22 and Intron 1 inversions. Other mutations may require additional testing.
What should I do if the test is positive?
Consult a genetic counselor or hematologist for further evaluation and management options.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in many cities across India.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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