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PHEX Gene Hypophosphatemic rickets, X-linked NGS Genetic Test

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PHEX Gene Hypophosphatemic rickets, X-linked NGS Genetic Test

Short Name: PHEX Gene Hypophosphatemic Rickets Test

Also known as: X-linked Hypophosphatemia, XLH, PHEX-related Rickets

PHEX Gene Hypophosphatemic rickets, X-linked NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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 detect pathogenic mutations in the PHEX gene for definitive diagnosis of X-linked hypophosphatemic rickets, aiding in clinical management, family planning, and genetic counseling.

Test Code
4977
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, Next-Generation Sequencing
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required prior to testing.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture or using an FTA card with one drop of blood.

Step 3

Report Delivery

The sample is transported to the laboratory under ambient conditions for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are mandatory before sample collection.
2
During the Test:Sample collection via blood draw or FTA card, followed by laboratory processing.
3
After the Test:Results are available in 3-4 weeks, with reports delivered online. Follow-up with a genetic counselor is advised.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the PHEX gene for definitive diagnosis of X-linked hypophosphatemic rickets, aiding in clinical management, family planning, and genetic counseling.

How to Prepare

  • Provide detailed clinical history of the patient
  • Undergo a genetic counseling session for pedigree chart preparation
  • Ensure sample is collected in a sterile environment
  • Label samples correctly with patient information

Doctor's Notes

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

"Genetic testing for PHEX gene mutations is crucial for diagnosing X-linked hypophosphatemic rickets, enabling early intervention and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PHEX gene. A positive result confirms X-linked hypophosphatemic rickets, while a negative result suggests no detectable mutations, though clinical correlation is advised.
📊

Positive for pathogenic PHEX mutation

Confirms diagnosis of X-linked hypophosphatemic rickets. Recommend clinical management and genetic counseling.

📊

Negative for pathogenic PHEX mutation

No mutations detected. Consider other causes of rickets and further clinical evaluation.

📊

Variant of uncertain significance (VUS)

Genetic variant identified but clinical significance unknown. Requires follow-up and family studies.

⚠️ When to Consult a Doctor:

Consult a doctor if you or your child exhibit symptoms such as bowed legs, short stature, bone pain, or dental issues, especially with a family history of rickets.

Limitations

  • ⚠May not detect all types of PHEX gene mutations, such as large deletions
  • ⚠Requires correlation with clinical and biochemical findings
  • ⚠Genetic counseling is recommended for result interpretation

Risks & Considerations

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

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA yield
  • ●Technical errors in sequencing

Frequently Asked Questions

What is PHEX Gene Hypophosphatemic Rickets?
It is a rare X-linked genetic disorder caused by mutations in the PHEX gene, leading to low phosphate levels and affecting bone and tooth development.
What are the common symptoms of this condition?
Symptoms include bowed legs, knock knees, short stature, joint pain, muscle weakness, delayed tooth eruption, and frequent bone fractures.
How is the PHEX Gene NGS Genetic Test performed?
The test uses next-generation sequencing to analyze the PHEX gene from a blood or DNA sample, detecting mutations associated with the disorder.
What is the cost of the test in India?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result confirms the presence of a pathogenic PHEX gene mutation, diagnosing X-linked hypophosphatemic rickets.
Is genetic counseling required before testing?
Yes, a genetic counseling session is recommended to discuss the test, draw a family pedigree, and understand implications.
Can children undergo this genetic test?
Yes, the test can be performed on individuals of any age, including children, if symptoms or family history suggest XLH.
What are the treatment options after diagnosis?
Treatment may include phosphate supplements, active vitamin D analogues, and regular monitoring to manage symptoms and prevent complications.
Is the test covered by health insurance?
Coverage varies by insurance plan; it is advisable to check with your provider. DNA Labs India offers transparent pricing.
How accurate is the NGS genetic test for PHEX mutations?
NGS provides high accuracy in detecting PHEX gene mutations, but results should be correlated with clinical findings for definitive diagnosis.
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

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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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