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MTTP Gene Abetalipoproteinemia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MTTP Gene Abetalipoproteinemia NGS Genetic Test

Short Name: MTTP Gene Abetalipoproteinemia Test

Also known as: MTTP Gene Sequencing, Abetalipoproteinemia DNA Test, Microsomal Triglyceride Transfer Protein Gene Test

MTTP Gene Abetalipoproteinemia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

To identify mutations in the MTTP gene associated with abetalipoproteinemia for accurate diagnosis, carrier testing, and genetic counseling.

Test Code
1869
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Standard blood draw or finger prick for DNA sample collection.

Step 3

Report Delivery

Sample is processed for DNA extraction and next-generation sequencing.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and test implications.
2
During the Test:Blood sample collection via venipuncture or finger prick.
3
After the Test:Sample analyzed in lab; results reported with interpretation.

About This Test

Who Should Get This Test

To identify mutations in the MTTP gene associated with abetalipoproteinemia for accurate diagnosis, carrier testing, and genetic counseling.

How to Prepare

  • Use EDTA tube for blood samples
  • Store FTA cards at ambient room temperature
  • Ensure proper labeling

Doctor's Notes

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

"Early genetic testing for abetalipoproteinemia can guide management and prevent complications like neurological damage from vitamin deficiencies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood in EDTA: stable for 7 days at 2-8°C
Extracted DNA: stable for years at -20°C
FTA card: stable at room temperature
Sample Rejection Criteria:
  • Clotted blood samples
  • Insufficient sample volume
  • Contaminated or mislabeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MTTP gene. Positive results confirm abetalipoproteinemia diagnosis, while negative results may require further clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of abetalipoproteinemia; genetic counseling recommended.

📊

Likely pathogenic variant detected

Probable diagnosis; clinical correlation and family testing advised.

📊

No pathogenic variants detected

Abetalipoproteinemia unlikely but clinical symptoms may warrant other tests.

📊

Variant of uncertain significance

Further testing or family studies needed for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or metabolic specialist if symptoms of fat malabsorption or vitamin deficiencies are present, or after a positive genetic test result.

Limitations

  • ⚠May not detect all variants in the MTTP gene
  • ⚠Variants of uncertain significance may require further testing
  • ⚠Does not assess biochemical lipid levels

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection

Interfering Factors

  • ●Degraded DNA sample
  • ●Sample contamination
  • ●Hemolysis in blood sample

Compare With Similar Tests

TestMTTP Gene Abetalipoproteinemia NGS Genetic Test
ComparisonMTTP Gene Abetalipoproteinemia NGS Genetic Test

Frequently Asked Questions

What is abetalipoproteinemia?
A rare genetic disorder caused by MTTP gene mutations that impairs fat absorption and leads to fat-soluble vitamin deficiencies.
What causes abetalipoproteinemia?
Mutations in the MTTP gene, which encodes a protein essential for lipoprotein formation, leading to impaired fat absorption.
How is the MTTP gene test performed?
Using next-generation sequencing (NGS) to analyze the MTTP gene for pathogenic variants from a blood or DNA sample.
What samples are required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample receipt.
What does a positive result mean?
It confirms a diagnosis of abetalipoproteinemia due to MTTP gene mutations, guiding treatment and genetic counseling.
Can the test detect all mutations in the MTTP gene?
NGS detects most known pathogenic variants, but some rare variants may not be identified.
Is genetic counseling recommended?
Yes, before and after testing to discuss implications, family risks, and management.
How is abetalipoproteinemia treated?
With high-dose fat-soluble vitamin supplementation (A, D, E, K) and dietary fat modifications.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers affordable pricing.
Where can I get the test done?
At DNA Labs India centers or via home collection in major cities across India.
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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✓ 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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