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HBG2 Gene Cyanosis, transient neonatal NGS Genetic Test

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HBG2 Gene Cyanosis, transient neonatal NGS Genetic Test

Short Name: HBG2 Gene Cyanosis Test

Also known as: Transient neonatal cyanosis HBG2-related, Hemoglobin gamma-2 gene cyanosis test

HBG2 Gene Cyanosis, transient neonatal 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 from sample receipt. Free home collection in 300+ cities across India.

Genetic TestNeonatal🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the HBG2 gene that cause transient neonatal cyanosis, aiding in diagnosis, genetic counseling, and management of the condition.

Test Code
2661
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide detailed clinical history and family pedigree during genetic counseling.

Method: Blood draw or cheek swab

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein or a cheek swab taken by a trained professional.

Step 3

Report Delivery

Apply pressure to the puncture site if blood is drawn. Ensure sample is stored and transported as per guidelines.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss the implications, benefits, and limitations of the test.
2
During the Test:Sample collection is performed in a clinical setting, followed by laboratory analysis using NGS technology.
3
After the Test:Results are analyzed by geneticists, and a report is generated with genetic counseling to explain findings.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the HBG2 gene that cause transient neonatal cyanosis, aiding in diagnosis, genetic counseling, and management of the condition.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Follow aseptic techniques to avoid contamination

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This test is essential for diagnosing transient neonatal cyanosis caused by HBG2 gene mutations, allowing for early intervention and genetic counseling to manage the condition effectively."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerSterile tube or FTA card
Collection MethodBlood draw or cheek swab

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for up to 1 week if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling or identification

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the HBG2 gene, which are associated with transient neonatal cyanosis.
Positive result: Pathogenic variant detected, confirming diagnosis of HBG2-related cyanosis.
Negative result: No pathogenic variants detected; consider other causes of cyanosis.
Variant of uncertain significance: Further testing or family studies may be required for clarification.
⚠️ When to Consult a Doctor:

Consult a geneticist or hematologist if symptoms persist, worsen, or if there is a family history of hemoglobin disorders.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a standalone diagnostic tool; clinical correlation needed

Risks & Considerations

  • ●Minor bruising or pain at blood draw site
  • ●Risk of infection (minimal with proper technique)
  • ●Fainting or dizziness during blood collection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample collection technique

Compare With Similar Tests

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Frequently Asked Questions

What is HBG2 Gene Cyanosis?
HBG2 Gene Cyanosis is a genetic condition caused by mutations in the HBG2 gene, leading to abnormal hemoglobin and impaired oxygen transport, resulting in cyanosis in newborns.
What are the symptoms of HBG2 Gene Cyanosis?
Symptoms include bluish tint in skin, lips, and nails, shortness of breath, fatigue, dizziness, and rapid heartbeat in neonates.
How is the HBG2 Gene Cyanosis test performed?
The test uses Next Generation Sequencing (NGS) to analyze DNA from a blood sample or cheek swab for mutations in the HBG2 gene.
What is the cost of the HBG2 Gene Cyanosis NGS Genetic Test?
The cost at DNA Labs India is INR 20,000, which includes test analysis and genetic counseling.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What samples are required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What do the test results indicate?
Results show whether pathogenic mutations in the HBG2 gene are present, helping diagnose transient neonatal cyanosis.
Can this test be used for prenatal diagnosis?
This test is designed for neonatal diagnosis; for prenatal testing, consult a genetic counselor for appropriate options.
Are there any risks associated with the test?
Risks are minimal and include minor bruising or infection at the sample collection site.
How can I book the test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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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