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DMD/BMD Mutation Screening (26 Exons) [Prenatal] Test

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DMD/BMD Mutation Screening (26 Exons) [Prenatal] Test

Short Name: DMD/BMD Prenatal Screening

Also known as: DMD/BMD Prenatal Mutation Analysis, Dystrophin Gene Prenatal Screening, DMD/BMD 26 Exon Panel

DMD/BMD Mutation Screening (26 Exons) [Prenatal] Test test available at DNA Labs India for ₹10,500. Uses Multiplex End Point PCR on Amniotic fluid / Chorionic villi / Cord blood samples. Results in Reports are delivered within 4-5 days after sample collection. You will be notified via email/SMS when the report is ready.. Free home collection in 300+ cities across India.

Molecular GeneticsFemalePregnant women🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of DMD/BMD mutation screening (26 exons) in the prenatal setting is to determine whether a fetus has inherited a pathogenic mutation in the dystrophin gene. This test is specifically designed for pregnant women who are known carriers of DMD/BMD or have a family history of the disorder. By identifying affected fetuses early in pregnancy, parents can make informed decisions about continuation of pregnancy, plan for early intervention, and prepare for the medical and supportive care needs of the child. Additionally, the test provides reassurance for carrier mothers when the fetus is unaffected. The 26-exon analysis covers the most common deletion/duplication regions, offering high sensitivity for detecting mutations that cause DMD/BMD. This information is crucial for genetic counseling and for discussing reproductive options with the family.

Test Code
6094
CPT Code
81408
ICD Code
Z36.89
Price
₹10,500
Sample Type
Amniotic fluid / Chorionic villi / Cord blood
Result Time
Reports are delivered within 4-5 days after sample collection. You will be notified via email/SMS when the report is ready.
Fasting Required
No
Method
Multiplex End Point PCR
Step 1

Sample Collection

A doctor's prescription is required for this test. For prenatal cases, the procedure is performed by an obstetrician. Inform your doctor about any medications or supplements you are taking. No fasting is required. Ensure you have undergone pre-test genetic counseling.

Method: Amniocentesis / CVS / Cordocentesis by specialist

Step 2

Laboratory Analysis

The sample is collected via amniocentesis (amniotic fluid), chorionic villus sampling (CVS), or cordocentesis (cord blood) under ultrasound guidance. The procedure is performed in a sterile environment by a qualified specialist. You may experience mild discomfort but it is generally well-tolerated.

Step 3

Report Delivery

After the procedure, rest for a short period. You may experience mild cramping or spotting. Avoid strenuous activities for 24 hours. Contact your doctor if you experience fever, severe pain, or fluid leakage. Results will be available in 4-5 days.

Timeline: Reports are delivered within 4-5 days after sample collection. You will be notified via email/SMS when the report is ready.

Patient Instructions

1
Before the Test:Before the test, you will have a genetic counseling session to discuss the procedure, risks, and implications. You will be asked to sign an informed consent. A doctor's prescription is mandatory.
2
During the Test:The sample collection is performed by an obstetrician using ultrasound guidance. The procedure takes about 15-20 minutes. You may feel a slight pinch or cramping.
3
After the Test:After the procedure, you will be monitored for 30-60 minutes. You can resume normal activities after 24 hours. Results are typically available in 4-5 days.

About This Test

Who Should Get This Test

The purpose of DMD/BMD mutation screening (26 exons) in the prenatal setting is to determine whether a fetus has inherited a pathogenic mutation in the dystrophin gene. This test is specifically designed for pregnant women who are known carriers of DMD/BMD or have a family history of the disorder. By identifying affected fetuses early in pregnancy, parents can make informed decisions about continuation of pregnancy, plan for early intervention, and prepare for the medical and supportive care needs of the child. Additionally, the test provides reassurance for carrier mothers when the fetus is unaffected. The 26-exon analysis covers the most common deletion/duplication regions, offering high sensitivity for detecting mutations that cause DMD/BMD. This information is crucial for genetic counseling and for discussing reproductive options with the family.

How to Prepare

  • Amniotic fluid: 10-15 mL in sterile container
  • Chorionic villi: 10-20 mg in sterile saline container
  • Cord blood: 2 mL in EDTA vacutainer
  • Samples should be transported at room temperature (cool pack/ambient) to the laboratory within 24 hours

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Prenatal DMD/BMD screening is crucial for at-risk pregnancies. Early detection allows informed reproductive decisions and timely intervention."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeAmniotic fluid / Chorionic villi / Cord blood
Sample Volume10-15 mL amniotic fluid, 10-20 mg chorionic villi, 2 mL cord blood
ContainerSterile container / Sterile Normal Saline Container / EDTA Vacutainer (2ml)
Collection MethodAmniocentesis / CVS / Cordocentesis by specialist

Sample Stability

Amniotic fluid: 24 hours at room temperature, 48 hours at 2-8°C
Chorionic villi: 24 hours at room temperature, 48 hours at 2-8°C
Cord blood: 24 hours at room temperature, 72 hours at 2-8°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Samples received after 48 hours without proper storage
  • Maternal cell contamination suspected
  • Improper labeling or missing requisition form

Understanding Your Results

The results of DMD/BMD mutation screening (26 exons) are reported as either 'No pathogenic mutations detected' or 'Pathogenic mutation detected' with specific exon details. Interpretation should be done by a clinical geneticist in the context of family history and clinical presentation.
📊

Negative (no deletion/duplication)

No mutation found in the 26 exons analyzed. The risk of DMD/BMD is significantly reduced, but not completely excluded due to possible point mutations or other exons.

Clinical action: Reassurance; consider additional testing if clinical suspicion remains high.

📊

Positive (deletion/duplication detected)

A pathogenic mutation is present. The specific exon(s) involved will be reported. The reading frame (in-frame vs out-of-frame) determines BMD vs DMD phenotype.

Clinical action: Genetic counseling; discuss reproductive options, pregnancy management, and postnatal care.

⚠️ When to Consult a Doctor:

Consult your doctor or genetic counselor if you have a family history of DMD/BMD, are a known carrier, or have had a previous affected child. Also, if you are pregnant and have concerns about genetic disorders, discuss prenatal testing options with your obstetrician.

Limitations

  • ⚠This test detects only deletions/duplications in the 26 exons analyzed; point mutations and mutations in other exons are not covered
  • ⚠Results should be interpreted in conjunction with clinical findings and family history
  • ⚠Genetic counseling is recommended before and after testing
  • ⚠The test does not determine carrier status of the mother unless specifically requested
  • ⚠Invasive prenatal procedures carry a small risk of miscarriage (0.5-1%)

Risks & Considerations

  • ●Miscarriage (0.5-1% for amniocentesis/CVS)
  • ●Infection at the puncture site
  • ●Amniotic fluid leakage
  • ●Maternal cell contamination leading to false results
  • ●Emotional distress from results

Interfering Factors

  • ●Maternal cell contamination in fetal samples can lead to false negative results
  • ●Insufficient sample quantity or poor DNA quality
  • ●Rare point mutations not covered by the 26-exon panel
  • ●Mosaicism in the fetus or mother
  • ●Contamination during sample collection or handling

Compare With Similar Tests

TestDMD/BMD Mutation Screening (26 Exons) [Prenatal]Carrier Screening for DMD/BMDNon-Invasive Prenatal Testing (NIPT)Whole Exome Sequencing (WES)
ComparisonDMD/BMD Mutation Screening (26 Exons) [Prenatal]

Frequently Asked Questions

What is the cost of DMD/BMD Mutation Screening (26 Exons) [Prenatal]?
The cost is INR 10,500, which includes free home sample collection and genetic counseling.
What sample is required for this prenatal test?
The sample can be amniotic fluid, chorionic villi, or cord blood, collected by a specialist.
Is fasting required before the test?
No, fasting is not required for this test.
How long does it take to get results?
Results are available within 4-5 days after sample collection.
Who should consider this prenatal test?
Pregnant women with a family history of DMD/BMD, known carriers, or those who have had a previous affected child.
Does this test detect all types of DMD/BMD mutations?
No, it detects deletions/duplications in 26 exons, which covers the most common mutations. Point mutations and other exons are not included.
Is a doctor's prescription required?
Yes, a doctor's prescription is required for this test.
What are the risks of the prenatal sample collection?
There is a small risk of miscarriage (0.5-1%) and other rare complications. Discuss with your doctor.
Can this test be done at home?
Sample collection is done at a clinic or hospital by a specialist. However, DNA Labs India offers free home sample collection for the blood sample (if applicable), but prenatal samples require a hospital visit.
What does a negative result mean?
A negative result means no deletion/duplication was found in the 26 exons analyzed, but it does not completely rule out DMD/BMD due to other mutation types.
Is genetic counseling included?
Yes, genetic counseling is included as part of the test service.
In which cities is this test available?
The test is available across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and many other cities.
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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