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NR1H4 Gene Cholestasis, infantile, NR1H4 related NGS Genetic Test

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NR1H4 Gene Cholestasis, infantile, NR1H4 related NGS Genetic Test

Short Name: NR1H4 Gene Cholestasis Test

Also known as: FXR-related Cholestasis, NR1H4-related Liver Disease

NR1H4 Gene Cholestasis, infantile, NR1H4 related 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 TestInfants🏠 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 NR1H4 gene responsible for infantile cholestasis, enabling accurate diagnosis and personalized treatment planning.

Test Code
2571
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

No specific preparation required. Inform the lab about any medications or recent procedures.

Method: Venipuncture or finger-prick for FTA card

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist. For FTA card, a small drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site. Keep the sample at room temperature and transport to the lab promptly.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test implications.
2
During the Test:Sample collection as per standard procedure.
3
After the Test:Wait for results and follow up with genetic counseling.

About This Test

Who Should Get This Test

To identify mutations in the NR1H4 gene responsible for infantile cholestasis, enabling accurate diagnosis and personalized treatment planning.

How to Prepare

  • Use sterile equipment
  • Label samples correctly
  • Avoid hemolysis

Doctor's Notes

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

"Genetic testing for NR1H4 mutations is crucial for early intervention in infantile cholestasis, potentially preventing severe liver damage."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick for FTA card

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card stable for months at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Genetic test results indicate the presence or absence of mutations in the NR1H4 gene.
Positive: Pathogenic variant detected, confirming diagnosis
Negative: No pathogenic variant detected, but clinical correlation needed
Variant of uncertain significance: Further testing may be required
⚠️ When to Consult a Doctor:

If your infant shows symptoms of liver disease or if there is a family history of genetic disorders, consult a healthcare professional for genetic testing.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may take several weeks

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●No significant risks from genetic testing itself

Interfering Factors

  • ●Contaminated DNA sample
  • ●Improper sample storage
  • ●Recent blood transfusion

Compare With Similar Tests

TestNR1H4 Gene Cholestasis, infantile, NR1H4 related NGS Genetic TestLiver Function TestBile Acid TestUltrasound
ComparisonNR1H4 Gene Cholestasis, infantile, NR1H4 related NGS Genetic Test

Frequently Asked Questions

What is NR1H4 gene cholestasis?
NR1H4 gene cholestasis is a rare genetic disorder in infants caused by mutations in the NR1H4 gene, leading to liver damage due to bile acid buildup.
What are the symptoms of NR1H4 gene cholestasis?
Symptoms include jaundice, pale stools, dark urine, enlarged liver or spleen, poor weight gain, and itching in infants.
How is NR1H4 gene cholestasis diagnosed?
Diagnosis involves clinical evaluation, blood tests, imaging, and definitive genetic testing using NGS to identify NR1H4 mutations.
What is the cost of the NGS genetic test in India?
The NR1H4 Gene Cholestasis NGS Genetic Test costs INR 20000 at DNA Labs India, with home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get the test results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic variant in the NR1H4 gene, confirming the diagnosis of NR1H4 gene cholestasis.
What should I do if the test is negative but symptoms persist?
Consult a healthcare professional for further evaluation, as other genetic or non-genetic causes may be responsible.
Is genetic testing safe for infants?
Yes, genetic testing involves a simple blood draw with minimal risks, such as bruising or infection at the puncture site.
Can this test detect other liver diseases?
The NGS test analyzes multiple genes, so it may detect mutations associated with other liver diseases, but it is specific to NR1H4 and related genes.
Do I need a doctor's prescription for this test?
While a prescription is recommended, you can book the test directly through DNA Labs India with genetic counseling provided.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations, but accuracy depends on sample quality and the specific variants analyzed.
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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