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DMD Mutation Screening (79 Exons) [Prenatal] Test

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DMD Mutation Screening (79 Exons) [Prenatal] Test

Short Name: DMD Prenatal Screening

Also known as: DMD gene mutation analysis, Dystrophin gene prenatal screening, DMD carrier prenatal test

DMD Mutation Screening (79 Exons) [Prenatal] Test test available at DNA Labs India for ₹26,000. Uses MLPA (Multiplex Ligation-dependent Probe Amplification) on Amniotic fluid / Chorionic villi / Cord Blood samples. Results in Reports are typically available within 7-10 working days after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

Molecular GeneticsFemalePrenatal🏠 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 primary purpose of this prenatal test is to determine whether the fetus has inherited a pathogenic mutation in the DMD gene, thereby confirming or excluding Duchenne muscular dystrophy. It is indicated for pregnancies at increased risk due to maternal carrier status or family history. Early diagnosis allows for timely medical management, including potential therapies and supportive care, and provides parents with crucial information for reproductive planning.

Test Code
6089
CPT Code
81408
ICD Code
Z13.71
Price
₹26,000
Sample Type
Amniotic fluid / Chorionic villi / Cord Blood
Result Time
Reports are typically available within 7-10 working days after the sample reaches the laboratory.
Fasting Required
No
Method
MLPA (Multiplex Ligation-dependent Probe Amplification)
Step 1

Sample Collection

No special preparation required. However, a doctor's prescription is mandatory. Inform your doctor about any medications or supplements you are taking.

Method: Amniocentesis, CVS, or Cordocentesis by specialist

Step 2

Laboratory Analysis

The sample is collected by a qualified obstetrician using a sterile procedure. You may experience mild discomfort during amniocentesis or CVS.

Step 3

Report Delivery

Rest for a few hours after the procedure. Contact your doctor if you experience fever, bleeding, or abdominal pain.

Timeline: Reports are typically available within 7-10 working days after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation required. A doctor's prescription is mandatory. Inform your doctor about any medications or supplements you are taking.
2
During the Test:The sample is collected by a qualified obstetrician using a sterile procedure. You may experience mild discomfort during amniocentesis or CVS.
3
After the Test:Rest for a few hours after the procedure. Contact your doctor if you experience fever, bleeding, or abdominal pain.

About This Test

Who Should Get This Test

The primary purpose of this prenatal test is to determine whether the fetus has inherited a pathogenic mutation in the DMD gene, thereby confirming or excluding Duchenne muscular dystrophy. It is indicated for pregnancies at increased risk due to maternal carrier status or family history. Early diagnosis allows for timely medical management, including potential therapies and supportive care, and provides parents with crucial information for reproductive planning.

How to Prepare

  • Amniotic fluid: 10-15 mL in sterile container
  • Chorionic villi: 10-20 mg in sterile saline container
  • Cord blood: 2-3 mL in EDTA vacutainer
  • Samples must be transported at 2-8°C (cool pack)

Doctor's Notes

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

"Prenatal DMD 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 CVS, 2-3 mL cord blood
ContainerSterile container / Sterile Normal Saline Container / EDTA Vacutainer
Collection MethodAmniocentesis, CVS, or Cordocentesis by specialist

Sample Stability

Amniotic fluid: 24 hours at 2-8°C
Chorionic villi: 24 hours at 2-8°C
Cord blood: 48 hours at 2-8°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Sample received without proper labeling
  • Sample not maintained at appropriate temperature

Understanding Your Results

The test report will indicate whether a pathogenic mutation in the DMD gene is detected. A negative result suggests no mutation was found in the tested exons, but does not completely rule out rare mutations. A positive result confirms the presence of a mutation, and genetic counseling is recommended.
📊

Negative

No deletion/duplication detected in the 79 exons. Risk of DMD is significantly reduced, but not zero.

Recommendation: Continue routine prenatal care; consider follow-up if clinical suspicion remains.

📊

Positive (deletion/duplication)

Pathogenic variant detected, confirming DMD diagnosis in the fetus.

Recommendation: Genetic counseling, discuss management options and postnatal care.

📊

Positive (point mutation)

Pathogenic point mutation detected, confirming DMD diagnosis.

Recommendation: Genetic counseling, discuss management options and postnatal care.

⚠️ When to Consult a Doctor:

Consult your obstetrician or genetic counselor if you have a family history of DMD, are a known carrier, or have any concerns about your pregnancy. Also, seek immediate medical advice if you experience any complications after the sample collection procedure.

Limitations

  • ⚠MLPA detects deletions/duplications but may miss deep intronic mutations or rare point mutations
  • ⚠Results should be interpreted in conjunction with clinical and family history
  • ⚠Test does not predict severity of disease
  • ⚠In rare cases, mosaicism may lead to false negative results

Risks & Considerations

  • ●Amniocentesis: small risk of miscarriage (0.1-0.3%)
  • ●CVS: small risk of miscarriage (0.5-1%)
  • ●Cordocentesis: small risk of bleeding or infection
  • ●Discomfort or cramping during procedure

Interfering Factors

  • ●Maternal cell contamination in fetal sample
  • ●Insufficient fetal DNA quantity
  • ●Sample degradation due to improper handling
  • ●Recent blood transfusion (for cord blood sample)

Compare With Similar Tests

TestDMD Mutation Screening (79 Exons) [Prenatal]DMD Carrier Screening (Blood)DMD Mutation Screening (79 Exons) - PostnatalDMD Muscle Biopsy
ComparisonDMD Mutation Screening (79 Exons) [Prenatal]

Frequently Asked Questions

What is DMD mutation screening (79 exons) prenatal test?
It is a genetic test performed on fetal samples (amniotic fluid, chorionic villi, or cord blood) to detect mutations in all 79 exons of the DMD gene, which causes Duchenne muscular dystrophy.
Who should undergo this prenatal test?
It is recommended for pregnant women with a family history of DMD, known carriers of the DMD gene mutation, or those who have had a previous child with DMD.
How is the fetal sample collected?
The sample is collected via amniocentesis (amniotic fluid), chorionic villus sampling (CVS), or cordocentesis (cord blood) by a qualified obstetrician.
What is the cost of the test?
The cost is Rs 26000, which includes free home sample collection and genetic counseling.
How long does it take to get results?
Results are typically available within 7-10 working days after the sample reaches the laboratory.
Is fasting required before the test?
No, fasting is not required for this test.
What is the accuracy of this test?
MLPA is highly accurate for detecting deletions and duplications in the DMD gene, with a detection rate of about 95% for these types of mutations.
Can this test detect all types of DMD mutations?
MLPA detects deletions and duplications, but may miss point mutations. Additional sequencing may be needed if point mutations are suspected.
Is the test safe for the fetus?
The procedure carries a small risk of miscarriage (0.1-1% depending on method). Your doctor will discuss the risks and benefits before the procedure.
Do I need a doctor's prescription?
Yes, a doctor's prescription is mandatory for this test.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
What should I do if the test result is positive?
If the result is positive, you will receive genetic counseling to discuss the implications, management options, and support resources.
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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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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