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DNA Labs India

FGF23 Gene Hypophosphatemic rickets, autosomal dominant NGS Genetic Test

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FGF23 Gene Hypophosphatemic rickets, autosomal dominant NGS Genetic Test

Short Name: FGF23 Gene Test

Also known as: Autosomal Dominant Hypophosphatemic Rickets, ADHR

FGF23 Gene Hypophosphatemic rickets, autosomal dominant 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 TestPediatric and Adult🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 3, 2026

Overview

The purpose of this test is to detect mutations in the FGF23 gene to confirm a diagnosis of autosomal dominant hypophosphatemic rickets, guide treatment decisions, and enable genetic counseling for affected families.

Test Code
4973
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 to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card.

Step 3

Report Delivery

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

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection is minimally invasive, involving a blood draw or FTA card.
3
After the Test:Results are delivered online; follow-up with a healthcare provider is advised for interpretation and management.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the FGF23 gene to confirm a diagnosis of autosomal dominant hypophosphatemic rickets, guide treatment decisions, and enable genetic counseling for affected families.

How to Prepare

  • Ensure proper identification and labeling of samples
  • Use sterile collection tubes or FTA cards as specified
  • Transport samples at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for FGF23 mutations is crucial for confirming diagnosis and guiding management in families with a history of hypophosphatemic rickets."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

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

Sample Stability

Blood or DNA
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample volume
  • Incorrect sample type or labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the FGF23 gene. A positive result confirms autosomal dominant hypophosphatemic rickets, while a negative result may require further testing if clinical suspicion remains high.
📊

Positive for FGF23 mutation

Confirms diagnosis of autosomal dominant hypophosphatemic rickets; genetic counseling and treatment recommended.

📊

Negative for FGF23 mutation

No pathogenic variant detected; consider other genetic or non-genetic causes if symptoms persist.

📊

Variant of uncertain significance

Further clinical correlation and family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a healthcare professional if you experience symptoms like bone pain, bowed legs, or short stature, or if you have a family history of hypophosphatemic rickets. After receiving test results, discuss management options with a geneticist or endocrinologist.

Limitations

  • ⚠This test detects mutations in the FGF23 gene only; other genetic causes of rickets are not covered
  • ⚠Results may require confirmation with additional clinical evaluation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling available

Interfering Factors

  • ●Contaminated or degraded DNA samples
  • ●Recent blood transfusions may affect results

Frequently Asked Questions

What is FGF23 Gene Hypophosphatemic Rickets?
It is a rare genetic disorder caused by mutations in the FGF23 gene, leading to low phosphate levels and bone abnormalities like rickets.
What are the common symptoms?
Symptoms include bone pain, bowed legs, short stature, delayed tooth development, muscle weakness, and frequent fractures, often starting in childhood.
How is the disorder diagnosed?
Diagnosis involves clinical evaluation and genetic testing using NGS to identify mutations in the FGF23 gene.
What does the NGS genetic test involve?
The test uses Next-Generation Sequencing to analyze the FGF23 gene for mutations from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, free home collection is offered across India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What treatment options are available?
Treatment includes phosphate and vitamin D supplements, surgery for bone deformities, and physical therapy to manage symptoms.
Is the disorder hereditary?
Yes, it is autosomal dominant, meaning a mutation from one parent can cause the condition.
Can hypophosphatemic rickets be cured?
There is no cure, but symptoms can be managed with ongoing treatment to improve quality of life.
What are the risks of the genetic test?
Risks are minimal, such as bruising from blood draw, but genetic results may have psychological impacts; counseling is provided.
How should I prepare for the test?
No fasting is required; provide clinical history and attend a genetic counseling session before testing.
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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