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GHRHR Gene Growth hormone deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GHRHR Gene Growth hormone deficiency NGS Genetic Test

Short Name: GHRHR Gene GHD NGS Test

Also known as: GHRHR Gene Test, Growth Hormone Deficiency Genetic Test, GHRHR Mutation Analysis

GHRHR Gene Growth hormone deficiency 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 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 the GHRHR Gene Growth Hormone Deficiency NGS Genetic Test is to detect pathogenic mutations in the GHRHR gene, confirming a genetic cause for growth hormone deficiency. This aids in accurate diagnosis, personalized treatment, and family genetic counseling.

Test Code
5407
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure; alternatively, use extracted DNA or FTA card sample.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis; results are available in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before testing.
2
During the Test:Sample collection via blood draw or alternative methods; procedure is minimally invasive.
3
After the Test:Wait for 3-4 weeks for results; follow up with a geneticist or endocrinologist for interpretation.

About This Test

Who Should Get This Test

The purpose of the GHRHR Gene Growth Hormone Deficiency NGS Genetic Test is to detect pathogenic mutations in the GHRHR gene, confirming a genetic cause for growth hormone deficiency. This aids in accurate diagnosis, personalized treatment, and family genetic counseling.

How to Prepare

  • Obtain clinical history of the patient
  • Conduct a genetic counseling session
  • Draw blood or use alternative sample types
  • Ensure proper labeling and transport

Doctor's Notes

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

"Genetic testing for GHRHR mutations can confirm diagnosis and guide treatment for growth hormone deficiency, especially in familial cases."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled specimens

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the GHRHR gene. Positive results confirm a genetic basis for growth hormone deficiency, while negative results may require further testing.
📊

Positive for pathogenic variant

Confirms genetic cause of GHD; recommend genetic counseling and targeted treatment.

📊

Negative for pathogenic variant

No mutation detected in GHRHR gene; consider other genetic or non-genetic causes.

📊

Variant of uncertain significance

Further evaluation needed; may require family studies or additional testing.

⚠️ When to Consult a Doctor:

Consult a doctor if experiencing symptoms of growth hormone deficiency, have a family history of GHD, or after receiving test results for personalized management.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection
  • ●Inadequate DNA extraction

Frequently Asked Questions

What is the GHRHR Gene Growth Hormone Deficiency NGS Genetic Test?
It is a next-generation sequencing test that detects mutations in the GHRHR gene to diagnose genetic causes of growth hormone deficiency.
How much does the test cost?
The test costs INR 20000, with free home sample collection available across India.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is the test covered by insurance?
This test may not be covered by insurance; out-of-pocket expenses are common. Check with your provider.
What are the symptoms of growth hormone deficiency?
Symptoms include short stature in children, fatigue, decreased muscle mass, increased fat, and bone density issues in adults.
Who should consider this test?
Individuals with symptoms of GHD, a family history of the condition, or those seeking genetic diagnosis.
What is the turnaround time for reports?
Reports are delivered in 3 to 4 weeks via online portal, email, or WhatsApp.
Does DNA Labs India provide raw data files?
Yes, DNA Labs India shares raw data, FASTQ, and VCF files along with the clinical report for transparency.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
What should I do after receiving test results?
Consult a geneticist or endocrinologist for interpretation and to discuss treatment options based on the results.
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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