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BAAT Gene Hypercholanemia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

BAAT Gene Hypercholanemia NGS Genetic Test

Short Name: BAAT Gene Hypercholanemia Test

Also known as: Hypercholanemia NGS Test, BAAT Gene Sequencing Test

BAAT Gene Hypercholanemia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 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 diagnose hypercholanemia by identifying mutations in the BAAT gene, confirm genetic basis of symptoms, guide treatment decisions, and facilitate family genetic counseling.

Test Code
4702
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
NGS Technology
Step 1

Sample Collection

Provide detailed clinical history and family pedigree during genetic counseling session.

Method: Venipuncture for blood or FTA card collection

Step 2

Laboratory Analysis

Blood sample drawn by trained phlebotomist using sterile equipment.

Step 3

Report Delivery

Sample is labeled and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss test implications, provide family history, and understand the process.
2
During the Test:Sample collection involves a simple blood draw; the procedure is quick and minimally invasive.
3
After the Test:Wait for the report (3-4 weeks), then follow up with a healthcare professional for interpretation and next steps.

About This Test

Who Should Get This Test

To diagnose hypercholanemia by identifying mutations in the BAAT gene, confirm genetic basis of symptoms, guide treatment decisions, and facilitate family genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection tubes
  • Follow aseptic techniques
  • Label samples accurately

Doctor's Notes

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

"This genetic test is crucial for early diagnosis of hypercholanemia, especially in families with a history of liver disorders, enabling timely management to prevent complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample VolumeAs required
Collection MethodVenipuncture for blood or FTA card collection

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improper labeling
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of mutations in the BAAT gene, which are associated with hypercholanemia.
📊

Pathogenic mutation detected

Confirms diagnosis of hypercholanemia; genetic counseling and management recommended.

📊

No pathogenic mutation detected

Hypercholanemia unlikely based on genetic testing; clinical correlation and further evaluation may be needed.

📊

Variant of uncertain significance

Further testing or family studies may be required for clarification.

⚠️ When to Consult a Doctor:

If symptoms such as itching, jaundice, or abdominal pain persist, or if there is a family history of liver disorders or hypercholanemia.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Genetic implications may require psychological support

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample handling

Compare With Similar Tests

TestBAAT Gene Hypercholanemia NGS Genetic Test
ComparisonBAAT Gene Hypercholanemia NGS Genetic Test

Frequently Asked Questions

What is BAAT Gene Hypercholanemia NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the BAAT gene, which cause hypercholanemia, a rare liver disorder.
What are the symptoms of hypercholanemia?
Symptoms include itching, fatigue, jaundice, pale stools, abdominal pain, nausea, vomiting, and malabsorption of fat-soluble vitamins.
How is hypercholanemia diagnosed?
Diagnosis involves medical history, physical examination, blood tests for bile acids, and genetic testing like the BAAT gene NGS test.
What does the NGS genetic test involve?
The test sequences the entire BAAT gene from a small blood sample to identify mutations, using advanced NGS technology.
What is the cost of the test?
The cost is INR 20,000 at DNA Labs India, with home collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get the results?
Reports are typically delivered within 3 to 4 weeks after sample collection.
What should I do before the test?
Provide clinical history and undergo genetic counseling to draw a family pedigree chart.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, such as bruising; genetic results may have emotional implications.
What do the test results mean?
Results indicate if BAAT gene mutations are present, confirming hypercholanemia, or absent, suggesting other causes.
Can the test be used for family screening?
Yes, it can help identify carriers or affected family members, especially with a history of hypercholanemia.
Where can I get this test done?
The test is available at DNA Labs India with home collection in cities like Mumbai, Delhi, Bangalore, and many more.
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

Your Data Privacy

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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