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DNA Labs India

AMACR Gene Bile acid synthesis defect type 4, congenital NGS Genetic Test

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AMACR Gene Bile acid synthesis defect type 4, congenital NGS Genetic Test

Short Name: AMACR Gene Test

Also known as: AMACR deficiency, Bile acid synthesis defect type 4

AMACR Gene Bile acid synthesis defect type 4, congenital NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 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

The purpose of this test is to identify mutations in the AMACR gene for the diagnosis of bile acid synthesis defect type 4, enabling early treatment and management to prevent liver complications.

Test Code
4645
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
NGS Technology
Step 1

Sample Collection

Consult with a healthcare provider or genetic counselor. Provide clinical history and family pedigree if available.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or finger prick. Ensure proper identification and labeling.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bleeding. Store the sample as instructed and await report delivery.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss the test, implications, and family history.
2
During the Test:Sample collection takes about 15-30 minutes. Minimal discomfort expected.
3
After the Test:Results are available in 3-4 weeks. Follow-up with a healthcare provider for interpretation and management.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the AMACR gene for the diagnosis of bile acid synthesis defect type 4, enabling early treatment and management to prevent liver complications.

How to Prepare

  • Fast for 8-12 hours if specified, though not typically required
  • Avoid strenuous activity before sample collection
  • Bring identification and test requisition form

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing bile acid synthesis defects and preventing liver complications in affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or Finger prick

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA card samples stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the AMACR gene. Genetic counseling is recommended for understanding implications.
Positive result: Pathogenic variant detected, confirming diagnosis
Negative result: No pathogenic variants detected, but clinical correlation needed
Variant of uncertain significance: Requires further evaluation
⚠️ When to Consult a Doctor:

If symptoms such as jaundice, pale stools, or failure to thrive persist, or if there is a family history of metabolic disorders, consult a geneticist or hepatologist immediately.

Limitations

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

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential emotional impact from genetic results; counseling recommended

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage or handling
  • ●Recent blood transfusion

Compare With Similar Tests

TestAMACR Gene Bile acid synthesis defect type 4, congenital NGS Genetic TestBile Acid Synthesis Defect Comprehensive PanelLiver Function Test (LFT)Whole Exome Sequencing
ComparisonAMACR Gene Bile acid synthesis defect type 4, congenital NGS Genetic Test

Frequently Asked Questions

What is AMACR gene bile acid synthesis defect type 4?
It is a rare genetic disorder caused by mutations in the AMACR gene, leading to impaired bile acid synthesis in the liver.
What are the common symptoms of this disorder?
Symptoms include jaundice, pale stools, dark urine, itching, abdominal pain, and failure to thrive in infants.
How is the diagnosis confirmed?
Diagnosis is confirmed through clinical evaluation, laboratory tests, and genetic testing using NGS to identify AMACR gene mutations.
What is the NGS Genetic Test?
Next-Generation Sequencing (NGS) is a advanced genetic test that sequences DNA to detect mutations in the AMACR gene accurately.
What is the cost of the test in India?
The cost is INR 20,000, with home sample collection available across India.
Is the test covered by health insurance?
It may be covered if deemed medically necessary; check with your insurance provider for details.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
What are the risks associated with the test?
Risks are minimal, such as bruising from blood draw. Genetic counseling is recommended to address emotional aspects.
Can this disorder be treated?
While there is no cure, early diagnosis allows for management through dietary modifications and medical therapy to prevent liver damage.
Who should consider this test?
Individuals with symptoms like jaundice or failure to thrive, or those with a family history of metabolic disorders, should consider testing.
How accurate is the genetic test?
NGS is highly accurate for detecting known mutations, but results should be interpreted in conjunction with clinical findings.
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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