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LMNA Gene Mandibuloacral dysplasia NGS Genetic Test

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LMNA Gene Mandibuloacral dysplasia NGS Genetic Test

Short Name: LMNA MAD NGS Test

Also known as: MAD Genetic Test, LMNA Gene Mutation Analysis, Mandibuloacral Dysplasia NGS Panel

LMNA Gene Mandibuloacral dysplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric, Adult🏠 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 confirm or rule out a diagnosis of Mandibuloacral Dysplasia by identifying pathogenic mutations in the LMNA gene. It aids in differentiating MAD from other laminopathies and skeletal dysplasias, guides clinical management, and enables reproductive risk assessment for family members.

Test Code
5825
CPT Code
81408
ICD Code
Q87.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a clinical history and genetic counseling session is recommended prior to testing.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.

Step 3

Report Delivery

No restrictions. You can resume normal activities immediately.

Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. However, a clinical history and genetic counseling session is recommended prior to testing.
2
During the Test:A blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
3
After the Test:No restrictions. You can resume normal activities immediately.

About This Test

Who Should Get This Test

The purpose of this test is to confirm or rule out a diagnosis of Mandibuloacral Dysplasia by identifying pathogenic mutations in the LMNA gene. It aids in differentiating MAD from other laminopathies and skeletal dysplasias, guides clinical management, and enables reproductive risk assessment for family members.

How to Prepare

  • For blood sample: Use EDTA vacutainer, mix gently to prevent clotting.
  • For FTA card: Apply one drop of blood onto the designated circle, air dry for 30 minutes.
  • Label the sample with patient name, date, and unique ID.
  • Transport at ambient temperature (15-25°C) to the laboratory within 24 hours.

Doctor's Notes

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

"Genetic testing for Mandibuloacral Dysplasia is crucial for accurate diagnosis and family counseling. Early detection can guide management of cardiac and skeletal complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood in EDTA: 7 days at 2-8°C, 24 hours at room temperature
Extracted DNA: 1 year at -20°C
FTA card: Stable for years at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled sample
  • Sample received after prolonged transit without proper storage

Understanding Your Results

The test report will indicate whether a pathogenic mutation in the LMNA gene was identified. If a mutation is found, it confirms the diagnosis of Mandibuloacral Dysplasia. If no mutation is found, it does not completely exclude the condition, as mutations in other genes or non-coding regions may be responsible.
Pathogenic variant detected: Confirms diagnosis of MAD; recommend cardiac surveillance and family testing.
Likely pathogenic variant: Likely confirms diagnosis; further segregation analysis may be advised.
Variant of uncertain significance (VUS): Cannot confirm or exclude diagnosis; additional testing or family studies may be needed.
No pathogenic variant: Reduces likelihood of LMNA-related MAD; consider other genetic causes.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or pediatrician if you or your child exhibits symptoms such as abnormal bone growth, premature aging, skin changes, or heart problems. Genetic testing can provide a definitive diagnosis.

Limitations

  • ⚠This test detects mutations in the LMNA gene only; mutations in other genes (e.g., ZMPSTE24) may cause similar phenotypes and are not covered.
  • ⚠Variant of uncertain significance (VUS) may be reported; further functional studies may be required.
  • ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be needed.
  • ⚠Genetic counseling is recommended to interpret results in the context of family history.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of genetic results
  • ●Potential for incidental findings (unrelated to MAD)

Interfering Factors

  • ●Contamination of sample with foreign DNA
  • ●Insufficient DNA quantity or quality
  • ●Presence of maternal cell contamination in prenatal samples
  • ●Recent blood transfusion (if using blood sample)

Compare With Similar Tests

TestLMNA Gene Mandibuloacral dysplasia NGS Genetic TestZMPSTE24 Gene SequencingWhole Exome SequencingChromosomal Microarray
ComparisonLMNA Gene Mandibuloacral dysplasia NGS Genetic Test

Frequently Asked Questions

What is Mandibuloacral Dysplasia (MAD)?
Mandibuloacral Dysplasia is a rare genetic disorder characterized by underdeveloped mandible, clavicular hypoplasia, acroosteolysis, skin changes, and metabolic abnormalities. It is caused by mutations in the LMNA or ZMPSTE24 genes.
How is the LMNA gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the entire coding region of the LMNA gene for mutations. A blood sample or FTA card sample is collected and sent to the laboratory.
What is the cost of the test?
The test costs INR 20000, which includes free home sample collection and genetic counseling.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample is received.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What sample is needed?
We accept blood (EDTA) or extracted DNA or one drop of blood on an FTA card.
Can this test be done for children?
Yes, the test is suitable for pediatric patients. A pediatric blood collection kit is available.
Will the test detect all types of MAD?
This test specifically analyzes the LMNA gene. Mutations in other genes like ZMPSTE24 may also cause MAD and would not be detected. Additional testing may be recommended if clinical suspicion remains high.
What does a positive result mean?
A positive result confirms the diagnosis of MAD and helps guide management and family counseling.
What does a negative result mean?
A negative result reduces the likelihood of LMNA-related MAD but does not completely exclude it. Other genetic causes should be considered.
Is genetic counseling included?
Yes, a genetic counseling session is included to discuss the test implications and draw a pedigree chart.
Do you offer home sample collection?
Yes, we offer free home sample collection across major cities in India for online bookings.
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.

LIMS Integration

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Your medical data is protected under Indian law.

✓ 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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