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SAR1B Gene Chylomicron retention disease NGS Genetic Test

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SAR1B Gene Chylomicron retention disease NGS Genetic Test

Short Name: SAR1B Gene Test

Also known as: Chylomicron Retention Disease, Anderson Disease

SAR1B Gene Chylomicron retention disease 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 SAR1B gene responsible for chylomicron retention disease, enabling early diagnosis, personalized dietary management, and prevention of long-term complications such as malnutrition and organ damage.

Test Code
1928
Price
₹20,000
Sample Type
Blood or 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 detailed clinical history and pedigree chart of affected family members during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via standard venipuncture or one drop on FTA card by a trained professional.

Step 3

Report Delivery

Sample labeled and transported to the lab at ambient temperature for processing.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, family history, and obtain informed consent.
2
During the Test:Non-invasive blood draw; minimal discomfort with possible slight bruising.
3
After the Test:Results interpreted by a geneticist; follow-up counseling for management planning.

About This Test

Who Should Get This Test

To identify mutations in the SAR1B gene responsible for chylomicron retention disease, enabling early diagnosis, personalized dietary management, and prevention of long-term complications such as malnutrition and organ damage.

How to Prepare

  • Ensure proper patient identification and labeling
  • Use sterile collection techniques
  • Transport sample at room temperature within specified stability period

Doctor's Notes

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

"Early genetic testing for chylomicron retention disease is crucial for timely dietary management and preventing complications like pancreatitis and nutritional deficiencies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for up to 7 days at 4°C
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or container

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SAR1B gene, confirming or ruling out chylomicron retention disease.
Positive result: Pathogenic mutation detected, consistent with diagnosis; recommend dietary management and monitoring.
Negative result: No mutation detected; consider other causes of fat malabsorption and further clinical evaluation.
Variant of uncertain significance: Requires additional family studies or functional analysis for clarification.
⚠️ When to Consult a Doctor:

If experiencing symptoms like chronic diarrhea, weight loss, or nutritional deficiencies, or with a family history of the disease, consult a genetic specialist for evaluation and testing.

Limitations

  • ⚠May not detect all genetic variants or deep intronic mutations
  • ⚠Requires genetic counseling for proper interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or soreness at blood draw site
  • ●Very low risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Inadequate DNA yield
  • ●Recent blood transfusions

Compare With Similar Tests

TestSAR1B Gene Chylomicron retention disease NGS Genetic TestStool Fat TestLipid ProfileIntestinal BiopsyGenetic Panel for Metabolic Disorders
ComparisonSAR1B Gene Chylomicron retention disease NGS Genetic TestDetects fat malabsorption but not genetic cause; less specific.Measures blood lipid levels; may be normal in chylomicron retention disease.Invasive procedure; shows histological changes but not genetic basis.Broader testing; may include SAR1B but cost and turnaround vary.

Frequently Asked Questions

What is chylomicron retention disease?
It is a rare genetic disorder caused by mutations in the SAR1B gene, leading to impaired fat absorption and symptoms like fatty stools and vitamin deficiencies.
How is the SAR1B gene test performed?
The test uses next-generation sequencing (NGS) to analyze the SAR1B gene from a blood or DNA sample for mutations.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities nationwide.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is required.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider this test?
Individuals with symptoms of fat malabsorption, failure to thrive, or a family history of chylomicron retention disease.
What do positive results mean?
Positive results indicate the presence of pathogenic mutations in the SAR1B gene, confirming the diagnosis and guiding treatment.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw; the test itself is safe and non-invasive.
How should I prepare for the test?
Provide clinical history and undergo genetic counseling; no special preparation is needed.
Is the test covered by insurance?
Coverage varies; it is generally not covered by government schemes but check with private insurers.
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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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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