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GH1 Gene Growth hormone deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GH1 Gene Growth hormone deficiency NGS Genetic Test

Short Name: GH1 Gene Test

Also known as: GH1 Gene Mutation Test, Growth Hormone Deficiency Genetic Test, GH1 NGS Test

GH1 Gene Growth hormone deficiency 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 TestAll Ages🏠 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 GH1 Gene Growth Hormone Deficiency NGS Genetic Test is to identify mutations in the GH1 gene that cause growth hormone deficiency. This test aids in confirming the diagnosis, understanding the genetic basis, and guiding treatment decisions, including hormone replacement therapy.

Test Code
5408
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 doctor about any medications or medical conditions.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm. For FTA card, a drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No fasting required. Provide clinical history and family pedigree if possible.
2
During the Test:Blood sample collection takes a few minutes. The test is non-invasive.
3
After the Test:Results will be available in 3-4 weeks. Follow up with your doctor for interpretation.

About This Test

Who Should Get This Test

The purpose of the GH1 Gene Growth Hormone Deficiency NGS Genetic Test is to identify mutations in the GH1 gene that cause growth hormone deficiency. This test aids in confirming the diagnosis, understanding the genetic basis, and guiding treatment decisions, including hormone replacement therapy.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

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

"Genetic testing for GH1 gene mutations is essential for confirming growth hormone deficiency and guiding personalized treatment plans."

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

Sample Stability

Blood samples: stable for 48 hours at room temperature
Extracted DNA: stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the GH1 gene. A positive result confirms a genetic cause for growth hormone deficiency.
Positive: Pathogenic mutation detected, consistent with GHD
Negative: No pathogenic mutations detected, consider other causes
Variant of uncertain significance: Requires further evaluation
⚠️ When to Consult a Doctor:

If you experience symptoms of growth hormone deficiency or have a family history, consult an endocrinologist or geneticist for evaluation and possible testing.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a substitute for clinical diagnosis
  • ⚠Results may be inconclusive in some cases

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample storage
  • ●Recent blood transfusion

Compare With Similar Tests

TestGH1 Gene Growth hormone deficiency NGS Genetic TestIGF-1 TestGH Stimulation TestPituitary MRIKaryotype Analysis
ComparisonGH1 Gene Growth hormone deficiency NGS Genetic Test

Frequently Asked Questions

What is the GH1 Gene Growth Hormone Deficiency NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the GH1 gene, which can cause growth hormone deficiency.
Who should take this test?
Individuals with symptoms of growth hormone deficiency, such as delayed growth in children or fatigue in adults, or those with a family history of the condition.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to identify mutations in the GH1 gene.
What is the cost of the test in India?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
A positive result indicates a pathogenic mutation in the GH1 gene, confirming a genetic cause for growth hormone deficiency. A negative result means no mutations were detected.
Are there any risks associated with the test?
The test involves minimal risks, such as bruising from blood draw. Genetic testing itself has no significant risks.
How accurate is the NGS genetic test?
NGS technology offers high sensitivity and specificity for detecting mutations, but accuracy depends on sample quality and interpretation.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis. For prenatal testing, consult a genetic counselor for appropriate options.
What is the difference between this test and other hormone tests?
This test detects genetic mutations, while hormone tests like IGF-1 measure hormone levels. Genetic testing identifies the root cause.
How do I prepare for the test?
No special preparation is needed. Inform your doctor about any medications or medical conditions before sample collection.
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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