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AKR1D1 Gene Bile acid synthesis defect type 2, congenital NGS Genetic Test

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AKR1D1 Gene Bile acid synthesis defect type 2, congenital NGS Genetic Test

Short Name: AKR1D1 Bile Acid Synthesis Defect Type 2 NGS Test

Also known as: AKR1D1 deficiency, Congenital bile acid synthesis defect type 2

AKR1D1 Gene Bile acid synthesis defect type 2, congenital NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the AKR1D1 gene responsible for bile acid synthesis defect type 2, aiding in accurate diagnosis, treatment planning, and genetic counseling for patients and families.

Test Code
4647
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling session to discuss test implications and obtain informed consent.

Method: Blood Draw

Step 2

Laboratory Analysis

Standard venipuncture to collect blood sample.

Step 3

Report Delivery

Sample transported to lab under controlled conditions for DNA extraction and NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor and provide clinical history.
2
During the Test:Blood sample collection procedure.
3
After the Test:Results analyzed and reported by geneticist.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the AKR1D1 gene responsible for bile acid synthesis defect type 2, aiding in accurate diagnosis, treatment planning, and genetic counseling for patients and families.

How to Prepare

  • Ensure proper patient identification
  • Use sterile equipment
  • Label sample correctly

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test is crucial for early diagnosis and management of bile acid synthesis defects, enabling targeted treatment and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Collection MethodBlood Draw
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed sample
  • Incorrect sample type

Understanding Your Results

Test results indicate the presence or absence of mutations in the AKR1D1 gene.
📊

Positive

Pathogenic mutation detected, confirming diagnosis of bile acid synthesis defect type 2. Genetic counseling and management recommended.

📊

Negative

No pathogenic mutations detected. Clinical correlation may be needed if symptoms persist.

⚠️ When to Consult a Doctor:

If test is positive or if symptoms of bile acid synthesis defect are present, consult a geneticist or hepatologist for management.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires interpretation by a geneticist
  • ⚠Not a substitute for clinical diagnosis

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation
  • ●Technical errors in sequencing

Compare With Similar Tests

TestAKR1D1 Gene Bile acid synthesis defect type 2, congenital NGS Genetic TestLiver Function TestBile Acid Measurement
ComparisonAKR1D1 Gene Bile acid synthesis defect type 2, congenital NGS Genetic TestAssesses liver health but does not identify genetic causes.Measures bile acid levels in blood but not specific to AKR1D1 mutations.

Frequently Asked Questions

What is AKR1D1 Gene Bile Acid Synthesis Defect Type 2?
It is a rare genetic disorder caused by mutations in the AKR1D1 gene, leading to defective bile acid synthesis and associated symptoms like jaundice and poor growth.
What are the common symptoms of this disorder?
Common symptoms include jaundice, poor growth and weight gain, abdominal pain, cholestasis, steatorrhea, diarrhea, and fatigue.
How is AKR1D1 Gene Bile Acid Synthesis Defect Type 2 diagnosed?
Diagnosis involves clinical evaluation, blood tests, imaging, and genetic testing for mutations in the AKR1D1 gene using NGS technology.
What is the NGS Genetic Test for this disorder?
Next-generation sequencing (NGS) analyzes the AKR1D1 gene to detect mutations causing bile acid synthesis defect type 2, providing accurate diagnosis.
What is the cost of the AKR1D1 Gene NGS Genetic Test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
Is the genetic test covered by insurance?
Genetic testing may not be covered by insurance; patients should check with their insurance provider before testing.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for this test in many cities across India.
What are the risks associated with the genetic test?
Risks are minimal and include minor bruising at the blood draw site and rare infection risk.
Can AKR1D1 Gene Bile Acid Synthesis Defect Type 2 be treated?
Management includes bile acid supplementation and monitoring liver function; early diagnosis improves outcomes.
Who should consider getting this genetic test?
Individuals with symptoms of bile acid synthesis defects or a family history of the disorder should consider testing.
How accurate is the AKR1D1 Gene NGS Genetic Test?
NGS provides high accuracy for detecting mutations in the AKR1D1 gene, but interpretation by a geneticist is recommended.
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.
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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