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CRHR1 Gene Pulmonary newborn hypertension NGS Genetic Test

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CRHR1 Gene Pulmonary newborn hypertension NGS Genetic Test

Short Name: CRHR1 Pulmonary Hypertension NGS Test

Also known as: CRHR1 Gene Test for PPHN, Pulmonary Hypertension Genetic Test

CRHR1 Gene Pulmonary newborn hypertension 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 TestNewborn🏠 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 the CRHR1 Gene Pulmonary Newborn Hypertension NGS Genetic Test is to identify mutations in the CRHR1 gene that may contribute to the development of persistent pulmonary hypertension of the newborn (PPHN). This test aids in early diagnosis, risk assessment, and personalized management of PPHN, especially in families with a history of cardiovascular or pulmonary disorders. It supports genetic counseling and informed decision-making for healthcare providers and families.

Test Code
5282
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

Ensure the patient's clinical history is documented. Genetic counseling is recommended prior to testing to discuss implications and family history.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Collect blood sample via venipuncture or blood drop on FTA card under sterile conditions. Label the sample correctly with patient details.

Step 3

Report Delivery

Store the sample at appropriate temperature and transport to the laboratory promptly. Follow standard biohazard protocols.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test purpose, implications, and family history. No fasting required unless specified by physician.
2
During the Test:Blood sample collection via venipuncture or FTA card. The process is quick and minimally invasive.
3
After the Test:Sample sent to laboratory for NGS analysis. Results available in 3-4 weeks. Follow-up consultation recommended.

About This Test

Who Should Get This Test

The purpose of the CRHR1 Gene Pulmonary Newborn Hypertension NGS Genetic Test is to identify mutations in the CRHR1 gene that may contribute to the development of persistent pulmonary hypertension of the newborn (PPHN). This test aids in early diagnosis, risk assessment, and personalized management of PPHN, especially in families with a history of cardiovascular or pulmonary disorders. It supports genetic counseling and informed decision-making for healthcare providers and families.

How to Prepare

  • Use aseptic technique for blood collection.
  • For FTA card, apply one drop of blood and allow to dry completely.
  • Ensure proper labeling with patient ID and date.
  • Transport sample in a sealed biohazard bag.

Doctor's Notes

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

"This genetic test is crucial for early diagnosis and management of pulmonary hypertension in newborns, especially in families with a history of cardiovascular disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Blood in EDTA tube: Stable for 7 days at 2-8°C.
FTA card: Stable at room temperature for up to 30 days.
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results from the CRHR1 Gene Test indicate the presence or absence of mutations in the CRHR1 gene. A positive result suggests a genetic predisposition to pulmonary hypertension, while a negative result indicates no pathogenic variants were detected in this gene.
Positive Result: Pathogenic variants identified; recommend genetic counseling and clinical evaluation for PPHN management.
Negative Result: No pathogenic variants detected; consider other genetic or environmental factors if symptoms persist.
Variant of Uncertain Significance (VUS): Further testing or family studies may be needed for clarification.
⚠️ When to Consult a Doctor:

Consult a healthcare provider if the test results are positive or if the newborn exhibits symptoms of pulmonary hypertension. Genetic counseling is advised for family planning and risk assessment.

Limitations

  • ⚠This test may not detect all genetic variants associated with pulmonary hypertension, as other genes may be involved.
  • ⚠Results are based on current scientific knowledge and may require interpretation in clinical context.
  • ⚠The test does not diagnose non-genetic causes of pulmonary hypertension.

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection at the collection site.
  • ●Psychological impact of genetic results; genetic counseling recommended.

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●Degraded DNA due to improper storage or handling
  • ●Presence of inhibitors in the blood sample affecting NGS analysis

Compare With Similar Tests

TestCRHR1 Gene Pulmonary newborn hypertension NGS Genetic TestBMPR2 Gene Test for Pulmonary HypertensionComprehensive Pulmonary Hypertension PanelEchocardiography for Pulmonary HypertensionCardiac Catheterization
ComparisonCRHR1 Gene Pulmonary newborn hypertension NGS Genetic Test

Frequently Asked Questions

What is the CRHR1 Gene Pulmonary Newborn Hypertension NGS Genetic Test?
This test uses next-generation sequencing (NGS) to analyze the CRHR1 gene for mutations associated with pulmonary hypertension in newborns, helping diagnose persistent pulmonary hypertension of the newborn (PPHN).
Why is this test important for newborns?
It identifies genetic predispositions to PPHN, enabling early diagnosis and intervention, which can improve outcomes and guide treatment plans for affected newborns.
How is the test performed?
A blood sample is collected via venipuncture or a blood drop on an FTA card. The DNA is extracted and analyzed using NGS technology to detect mutations in the CRHR1 gene.
What are the symptoms of pulmonary hypertension in newborns?
Symptoms include rapid breathing, shortness of breath, blue lips or skin (cyanosis), fatigue, fainting, and chest pain. These require immediate medical attention.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection, with reports delivered via online portal, email, or WhatsApp.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India, including Mumbai, Delhi, Bangalore, and others.
What is the cost of the test?
The cost is INR 20,000, which includes sample collection, NGS analysis, genetic counseling, and report delivery.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Genetic results may have psychological impacts, so genetic counseling is recommended.
How accurate is the NGS technology used?
NGS technology provides high accuracy in detecting genetic variants, with coverage depth ensuring reliable results. However, it may not detect all mutations.
Can this test diagnose other conditions?
This test specifically targets CRHR1 gene mutations related to pulmonary hypertension. For other conditions, additional genetic or diagnostic tests may be needed.
What should I do if the test is positive?
A positive result indicates a genetic predisposition to PPHN. Consult a healthcare provider for clinical evaluation, management options, and genetic counseling for family planning.
Is genetic counseling provided with the test?
Yes, genetic counseling is included as part of the test package to help interpret results, discuss implications, and provide support for families.
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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✓ 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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