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Clinical · Rare Disease
MLPA · Dystrophin Gene · X-linked

DMD Carrier Analysis

Duchenne Muscular Dystrophy — Largest Human Gene. Most Common Fatal Muscle Disease in Children.

Duchenne Muscular Dystrophy (DMD) is the most common fatal genetic muscle disease in children, affecting approximately 1 in 3,500–5,000 male births. Caused by deletions or mutations in the dystrophin gene — the largest known human gene at 2.4 Mb on the X chromosome — DMD causes progressive, irreversible muscle degeneration beginning in early childhood. Females who carry one mutated copy are typically unaffected but have a 50% chance of passing the condition to their sons. This MLPA-based test detects deletions and duplications in the dystrophin gene for diagnosis, carrier identification, and family planning.

X-linked recessive inheritance — DMD primarily affects males. Carrier females are usually healthy but can pass the mutation to their sons (50% risk) and daughters (50% chance of being a carrier). Carrier testing is critical for women with a family history of DMD.
★★★★★
5.0 (Verified clinical test) NABL & CAP lab
Sample type
Blood + Saliva
Turnaround
3–4 weeks
Gene analyzed
Dystrophin (DMD)
Technology
MLPA
DMD Duchenne Muscular Dystrophy Gene Test
DMD vs Becker Muscular Dystrophy (BMD)
Duchenne MD (DMD) — Severe
No functional dystrophin produced
Onset: 2–5 years old
Wheelchair by age 12 typically
Cardiac and respiratory involvement
Life expectancy: 20s–30s with care
Becker MD (BMD) — Milder
Some functional dystrophin produced
Onset: later, often teens or adults
Often ambulatory into adulthood
Slower progression
Longer life expectancy
X-linked inheritance — Risk for sons and daughters
When mother is a DMD carrier (XdX):
👦
Affected Son
25%
👦
Normal Son
25%
👧
Carrier Daughter
25%
👧
Normal Daughter
25%
Sons of carrier mothers have a 50% chance of having DMD. Daughters of carrier mothers have a 50% chance of being carriers themselves. Knowing carrier status before having children enables informed reproductive decisions.
What you'll discover

Dystrophin gene status

Deletions and duplications in the dystrophin gene detected — covering 70% of all DMD-causing mutations

MLPA analysis

Carrier identification

Whether a female carries one mutated copy of the dystrophin gene — critical for family planning decisions

Female carriers

Diagnosis confirmation

For males with muscle weakness, high CK levels, or developmental delays — confirms DMD or BMD diagnosis

Diagnostic clarity

Treatment eligibility

Specific exon deletion identified enables eligibility for exon-skipping therapies — mutation-specific treatments

Precision therapy

Family planning risk

Sons of carrier mothers have 50% DMD risk — PGD during IVF can help select unaffected male embryos

Reproductive options

DMD vs BMD distinction

The specific deletion pattern predicts whether the reading frame is maintained — distinguishing DMD from milder BMD

Reading frame rule
How it works
1

Order online

Place your order. Home collection kit ships within 24 hours — EDTA blood tube and saliva swab included.

2

Blood + Saliva sample collection

2ml EDTA blood + saliva swab at home. Return using prepaid courier label provided in your kit.

3

MLPA analysis — Dystrophin gene

MLPA detects deletions and duplications across all 79 exons of the dystrophin gene in our NABL & CAP accredited lab — covering the most common DMD-causing mutations.

4

Report + consultation

Detailed DMD carrier report in 3–4 weeks — mutation identified (if any), carrier/affected status, reading frame analysis (DMD vs BMD prediction), and family planning guidance.

Sample report preview

Your DMD Carrier Analysis Report

A snapshot of your dystrophin gene deletion/duplication analysis

Carrier Status
Carrier
Female carrier confirmed
Deletion Found
Exon 45-52
Out-of-frame deletion
Predicted Phenotype
DMD
Reading frame disrupted
Son Risk
50%
X-linked inheritance
All 79 exons analyzed
Deletion/duplication map
Reading frame analysis
DMD vs BMD prediction
Family planning guidance
Clinician-ready report
Frequently asked questions
Who should consider DMD carrier testing?
DMD carrier testing is recommended for females with a family history of DMD or BMD — including sisters, aunts, or cousins of affected males; mothers of an affected child; women planning pregnancy when there is a known DMD mutation in the family; and girls whose brother or uncle has DMD. Testing is also relevant for males with symptoms of muscle weakness, elevated creatine kinase (CK) levels, developmental motor delays, or calf muscle enlargement.
Why is MLPA used for DMD testing?
MLPA is the gold standard for DMD testing because approximately 65-70% of DMD cases are caused by deletions in the dystrophin gene, and another 5-10% by duplications — both of which MLPA detects accurately across all 79 exons. MLPA also determines the exact exons involved, enabling reading frame analysis to predict whether the patient will have the severe DMD phenotype or the milder BMD phenotype.
What is the reading frame rule?
The reading frame rule predicts disease severity based on the type of deletion. Deletions that shift the reading frame (out-of-frame) lead to no functional dystrophin production, causing severe DMD. Deletions that maintain the reading frame (in-frame) allow some shortened dystrophin production, causing the milder Becker MD. This rule accurately predicts the phenotype in approximately 90% of cases, which has important implications for prognosis and treatment eligibility.
What treatments are available for DMD?
Treatment options include corticosteroids (deflazacort, prednisone) to slow muscle decline; exon-skipping therapies (eteplirsen, golodirsen, viltolarsen, casimersen) — specific to the exon deletion, making genetic diagnosis essential; ataluren for specific point mutations; gene therapy approaches in clinical trials; and supportive care including physiotherapy, cardiac care, and respiratory support. Knowing the specific exon(s) deleted determines which targeted therapies a patient is eligible for.
Is my data safe?
Yes. All data is protected under ISO 27001, HIPAA, and GDPR standards. Never shared with insurance companies, employers, or third parties without your consent.
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🧬 Clinical Genomics · Rare Disease
₹7,500
  • All 79 exons of dystrophin gene analyzed
  • Deletion + duplication detection
  • Reading frame analysis — DMD vs BMD
  • Carrier / Affected / Clear status
  • NABL & CAP accredited lab
  • Family planning guidance included
Quantity
1
Secure checkout · SSL encrypted
Free pan-India shipping
Results in 3–4 weeks
Data never shared with insurers
NABL & CAP accredited
Genomic Expert Consultation — Available
After results, our Genomic Expert guides treatment options, exon-skipping eligibility, and family planning decisions with specialist coordination.
Appointment link sent via email after order confirmation.
NABL & CAP

Accredited lab

MLPA Technology

All 79 exons

Largest Gene

2.4 Mb dystrophin

ISO 27001

Data security

100% Private

GDPR compliant

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