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DNA Labs India

DMD Carrier Screening (79 Exons) Test

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DMD Carrier Screening (79 Exons) Test

Short Name: DMD Carrier Screening

Also known as: DMD Carrier Test, Duchenne Muscular Dystrophy Carrier Screening, DMD Gene Mutation Carrier Analysis

DMD Carrier Screening (79 Exons) Test test available at DNA Labs India for ₹25,000. Uses MLPA, Multiplex Ligation-dependent Probe Amplification on Peripheral Blood samples. Results in Reports are typically delivered within 7-10 business days after sample collection.. Free home collection in 300+ cities across India.

Molecular GeneticsFemale🏠 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 DMD Carrier Screening is to determine whether an individual carries a mutation in the DMD gene that could be passed on to offspring. This information is vital for family planning and genetic counseling. For women who are carriers, there is a 50% chance of passing the mutated gene to each child. Sons who inherit the mutation will be affected with DMD, while daughters will be carriers. By identifying carriers, couples can explore options such as prenatal testing, preimplantation genetic diagnosis, or adoption. The test also helps in assessing the risk of having a child with DMD, enabling proactive management and early intervention if needed.

Test Code
6090
CPT Code
81408
ICD Code
Z13.71
Price
₹25,000
Sample Type
Peripheral Blood
Result Time
Reports are typically delivered within 7-10 business days after sample collection.
Fasting Required
No
Method
MLPA, Multiplex Ligation-dependent Probe Amplification
Step 1

Sample Collection

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

Method: Venipuncture

Step 2

Laboratory Analysis

A peripheral blood sample (2 ml) will be collected in an EDTA vacutainer by a trained phlebotomist.

Step 3

Report Delivery

You may resume normal activities immediately. The sample will be transported to the laboratory for analysis.

Timeline: Reports are typically delivered within 7-10 business days after sample collection.

Patient Instructions

1
Before the Test:No special preparation is needed. Ensure you have a valid doctor's prescription.
2
During the Test:A blood sample will be drawn from your arm. The procedure is quick and minimally invasive.
3
After the Test:You can resume normal activities immediately. Results will be available in 7-10 days.

About This Test

Who Should Get This Test

The primary purpose of DMD Carrier Screening is to determine whether an individual carries a mutation in the DMD gene that could be passed on to offspring. This information is vital for family planning and genetic counseling. For women who are carriers, there is a 50% chance of passing the mutated gene to each child. Sons who inherit the mutation will be affected with DMD, while daughters will be carriers. By identifying carriers, couples can explore options such as prenatal testing, preimplantation genetic diagnosis, or adoption. The test also helps in assessing the risk of having a child with DMD, enabling proactive management and early intervention if needed.

How to Prepare

  • Ensure the prescription is provided at the time of sample collection
  • No fasting is required
  • Sample must be collected in an EDTA vacutainer
  • Maintain sample at ambient temperature during transport

Doctor's Notes

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

"Carrier screening for DMD is crucial for at-risk women, especially those with a family history. Early identification allows informed reproductive choices."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral Blood
Sample Volume2 ml
ContainerEDTA Vacutainer
Collection MethodVenipuncture

Sample Stability

Whole blood in EDTA: stable for 24-48 hours at room temperature
Stable for up to 7 days at 2-8°C
Do not freeze whole blood
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect anticoagulant tube
  • Inadequate sample volume
  • Improper labeling or missing prescription

Understanding Your Results

The results of DMD Carrier Screening are reported as positive or negative for deletions/duplications in the DMD gene. A positive result indicates the presence of a pathogenic variant, confirming carrier status. A negative result suggests no deletion/duplication was detected, but does not rule out other types of mutations.
📊

Negative

No deletion or duplication detected in the 79 exons analyzed. Carrier status for DMD due to deletions/duplications is unlikely. However, point mutations are not excluded.

📊

Positive

A pathogenic deletion or duplication was detected. The individual is a carrier of DMD. Genetic counseling and family testing are recommended.

📊

Inconclusive

Results could not be definitively interpreted. Further testing may be required.

⚠️ When to Consult a Doctor:

Consult a genetic counselor or obstetrician if you have a family history of DMD, if you are planning pregnancy, or if you have received a positive carrier result. Early consultation can help in making informed reproductive decisions.

Limitations

  • ⚠MLPA detects deletions/duplications but not point mutations or small insertions/deletions
  • ⚠Test does not predict severity of DMD in affected individuals
  • ⚠Genetic counseling is recommended for result interpretation
  • ⚠Not a diagnostic test for DMD in symptomatic individuals

Risks & Considerations

  • ●Minimal risk of bruising or bleeding at the puncture site
  • ●Rare risk of infection
  • ●Psychological impact of carrier status results

Interfering Factors

  • ●Maternal cell contamination in prenatal samples (if applicable)
  • ●Rare point mutations not detected by MLPA
  • ●Low DNA quality or quantity
  • ●Consanguinity may complicate interpretation

Compare With Similar Tests

TestDMD Carrier Screening (79 Exons)DMD Carrier Screening (79 Exons)DMD Full Gene SequencingDMD Targeted Mutation Analysis
ComparisonDMD Carrier Screening (79 Exons)

Frequently Asked Questions

What is DMD Carrier Screening?
DMD Carrier Screening is a genetic test that identifies carriers of Duchenne Muscular Dystrophy (DMD) gene mutations. Carriers are typically females who have one mutated copy of the DMD gene but do not show symptoms. The test analyzes 79 exons of the DMD gene to detect deletions or duplications.
Who should undergo DMD Carrier Screening?
Women with a family history of DMD, couples planning pregnancy, pregnant women, and those with unexplained elevated creatine kinase levels are recommended for this screening.
What is the cost of DMD Carrier Screening (79 Exons) in India?
The cost is INR 25000 at DNA Labs India. This includes the test, home sample collection, and report interpretation.
How is the test performed?
A peripheral blood sample (2 ml) is collected in an EDTA vacutainer. The DNA is extracted and analyzed using MLPA to detect deletions or duplications in all 79 exons of the DMD gene.
Is fasting required before the test?
No, fasting is not required for DMD Carrier Screening.
How long does it take to get results?
Results are typically available within 7-10 days after the sample is received by the laboratory.
What does a positive result mean?
A positive result indicates the presence of a pathogenic deletion or duplication in the DMD gene, confirming carrier status. Genetic counseling is recommended.
Can this test detect all types of DMD mutations?
No, MLPA detects deletions and duplications but not point mutations or small insertions/deletions. If a point mutation is suspected, full gene sequencing may be needed.
Is a doctor's prescription required?
Yes, a doctor's prescription is required for DMD carrier screening. However, it is not applicable for surgery, pregnancy cases, or individuals planning to travel abroad.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across major cities in India.
What is the sample type for this test?
The sample type is peripheral blood, collected in an EDTA vacutainer (2 ml).
Are there any risks associated with the test?
The test involves a standard blood draw, which carries minimal risks such as bruising or infection at the puncture site.
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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