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LHX3 Gene Pituitary hormone deficiency, combined type 3 NGS Genetic Test

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LHX3 Gene Pituitary hormone deficiency, combined type 3 NGS Genetic Test

Short Name: LHX3 Gene CPHD3 NGS Test

Also known as: Combined Pituitary Hormone Deficiency Type 3, LHX3-related hypopituitarism

LHX3 Gene Pituitary hormone deficiency, combined type 3 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 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

To diagnose mutations in the LHX3 gene that cause combined pituitary hormone deficiency type 3, enabling early intervention and management of symptoms.

Test Code
5481
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

Provide clinical history and undergo genetic counseling. No fasting required.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or alternative methods as specified.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis in the laboratory.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and test implications.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Laboratory analysis and report generation with genetic counseling follow-up.

About This Test

Who Should Get This Test

To diagnose mutations in the LHX3 gene that cause combined pituitary hormone deficiency type 3, enabling early intervention and management of symptoms.

How to Prepare

  • No fasting required
  • Bring valid ID and doctor's prescription if available
  • Ensure sample is properly labeled

Doctor's Notes

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

"Early genetic testing for LHX3 mutations is crucial for diagnosing combined pituitary hormone deficiency, enabling timely hormone replacement therapy and family planning counseling."

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 sample stable at room temperature for 24 hours
Extracted DNA stable for longer periods under proper storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or container

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the LHX3 gene, which are associated with combined pituitary hormone deficiency type 3.
📊

Positive

Pathogenic variant detected in the LHX3 gene, indicating a diagnosis of CPHD3. Clinical correlation and genetic counseling are recommended.

📊

Negative

No pathogenic variants detected in the LHX3 gene. Symptoms may be due to other causes; further evaluation may be needed.

📊

Variant of Uncertain Significance

A genetic variant was found, but its clinical significance is unknown. Repeat testing or family studies may be advised.

⚠️ When to Consult a Doctor:

If you experience symptoms such as growth delays, hormonal imbalances, or have a family history of pituitary disorders, consult a geneticist or endocrinologist for evaluation.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have implications for family members

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for incidental findings

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is the LHX3 Gene Pituitary Hormone Deficiency Test?
It is an NGS genetic test that analyzes the LHX3 gene for mutations causing combined pituitary hormone deficiency type 3 (CPHD3), a rare disorder affecting hormone production.
Who should consider this test?
Individuals with symptoms like short stature, delayed puberty, infertility, or a family history of pituitary hormone deficiencies should consider this test.
How is the test performed?
The test involves collecting a blood sample, extracting DNA, and using next-generation sequencing (NGS) to detect mutations in the LHX3 gene.
What is the cost of the test?
The test costs INR 20,000, which includes home sample collection, genetic counseling, and NGS analysis.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test 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?
Results indicate if pathogenic variants are present in the LHX3 gene. A positive result suggests CPHD3, while negative means no variants were detected.
Is genetic counseling provided?
Yes, a genetic counseling session is included to discuss family history, test implications, and result interpretation.
What are the risks of the test?
Risks are minimal, such as bruising from blood draw, but there may be psychological impacts from genetic results.
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.
How accurate is the NGS method?
NGS is highly accurate for detecting genetic mutations, but no test is 100% foolproof. Results should be correlated with clinical findings.
What should I do if the test is positive?
If positive, consult an endocrinologist or geneticist for management, which may include hormone replacement therapy and regular monitoring.
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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