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Nx Gen Sequencing: 4H Syndrome Test

DNA Labs India | ISO 9001:2015 Certified

Nx Gen Sequencing: 4H Syndrome Test

Short Name: 4H Syndrome Genetic Test

Also known as: 4H Syndrome, HABC Syndrome, Hypomyelination-Hypodontia-Hypogonadotropic Hypogonadism-Microcephaly Syndrome

Nx Gen Sequencing: 4H Syndrome Test test available at DNA Labs India for ₹23,400. Uses NGS, Sanger sequencing on Whole blood samples. Results in Report available in 40 working days after sample receipt. Free home collection in 300+ cities across India.

Genetic Sequencing 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 detect mutations in the POLR3A, POLR3B, and POLR1C genes to confirm a diagnosis of 4H Syndrome, assess carrier status, and support genetic counseling and management planning.

Test Code
1320
Price
₹23,400
Sample Type
Whole blood
Result Time
Report available in 40 working days after sample receipt
Fasting Required
No
Method
NGS, Sanger sequencing
Step 1

Sample Collection

Ensure the Whole Exome Sequencing Consent Form (Form 37) is duly filled and signed. No fasting required.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood draw will be performed by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Sample will be labeled, stored appropriately, and shipped refrigerated to the laboratory for analysis.

Timeline: Report available in 40 working days after sample receipt

Patient Instructions

1
Before the Test:Genetic counseling is recommended to understand test implications and obtain informed consent.
2
During the Test:A blood sample will be collected for DNA extraction and genetic analysis.
3
After the Test:Await report for approximately 40 working days; results will be delivered via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the POLR3A, POLR3B, and POLR1C genes to confirm a diagnosis of 4H Syndrome, assess carrier status, and support genetic counseling and management planning.

How to Prepare

  • Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes
  • Ship refrigerated; do not freeze
  • Include the duly filled Whole Exome Sequencing Consent Form (Form 37)
  • Ensure sample is collected daily by 9 am for timely processing

Doctor's Notes

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

"Early genetic testing for 4H Syndrome can guide treatment and management strategies, especially for families with a history of the disorder."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood
Sample Volume10 mL
ContainerLavender Top (EDTA) tubes
Collection MethodVenipuncture

Sample Stability

Room Temperature: 6 hours
Refrigerator: 72 hours
Frozen: Not applicable
Sample Rejection Criteria:
  • Insufficient sample volume
  • Missing or incomplete consent form
  • Improper sample type or container
  • Sample hemolysis or contamination

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the POLR3A, POLR3B, and POLR1C genes associated with 4H Syndrome.
Normal result: No mutations detected in the analyzed genes, reducing likelihood of 4H Syndrome
Mutation detected: Pathogenic variants found, indicating carrier or affected status; clinical correlation recommended
Variant of uncertain significance: Genetic counseling advised for further evaluation
Consult a geneticist or healthcare provider for comprehensive interpretation and next steps
⚠️ When to Consult a Doctor:

If symptoms of 4H Syndrome are present, such as neurological issues, dental anomalies, hormonal imbalances, or microcephaly, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all possible mutations or variants
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Cannot predict disease severity or progression

Risks & Considerations

  • ●Minor bruising or pain at the puncture site
  • ●Rare risk of infection or fainting
  • ●Psychological impact of results; counseling available

Interfering Factors

  • ●Sample hemolysis or improper storage
  • ●Contamination during collection
  • ●Incomplete consent form submission

Compare With Similar Tests

TestNx Gen Sequencing: 4H Syndrome Test
ComparisonNx Gen Sequencing: 4H Syndrome Test

Frequently Asked Questions

What is 4H Syndrome?
4H Syndrome is a rare autosomal recessive genetic disorder characterized by hypomyelination, hypodontia, hypogonadotropic hypogonadism, and microcephaly, affecting the nervous system and overall development.
What genes are analyzed in this test?
The test analyzes the POLR3A, POLR3B, and POLR1C genes for mutations associated with 4H Syndrome.
How is the test performed?
It uses Nx Gen Sequencing (NGS) and Sanger sequencing to examine DNA from a blood sample for genetic mutations.
What are the common symptoms of 4H Syndrome?
Symptoms include neurological issues like ataxia and dysarthria, missing teeth, hormonal imbalances causing delayed puberty, and small head size with developmental delays.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get results?
Results are typically available within 40 working days after sample collection.
What is the cost of the test?
The test costs INR 23,400, which includes sample collection, genetic analysis, and report generation.
Is fasting required for the test?
No, fasting is not required, but a duly filled consent form (Form 37) is mandatory.
Who should take this test?
Individuals with symptoms of 4H Syndrome, a family history of the disorder, or those needing genetic counseling should consider this test.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the analyzed genes, suggesting a diagnosis of 4H Syndrome or carrier status; genetic counseling is recommended.
Are there any risks associated with the test?
The test involves a standard blood draw with minimal risks like bruising or infection; psychological support is available for result interpretation.
How accurate is the test?
The test uses advanced sequencing technologies for high accuracy, but results should be interpreted by a geneticist in the context of 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.

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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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