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CLCN5 Gene Hypophosphatemic rickets NGS Genetic Test

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CLCN5 Gene Hypophosphatemic rickets NGS Genetic Test

CLCN5 Gene Hypophosphatemic rickets 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.

Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose CLCN5 gene mutations causing hypophosphatemic rickets.

Test Code
2592
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.

Method: Blood Draw or DNA Extraction

Step 2

Laboratory Analysis

Blood sample collection or DNA extraction.

Step 3

Report Delivery

Sample sent to lab for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling.
2
During the Test:Blood sample collection or DNA extraction.
3
After the Test:Sample sent to lab for analysis.

About This Test

Who Should Get This Test

To diagnose CLCN5 gene mutations causing hypophosphatemic rickets.

How to Prepare

  • Collect blood sample in appropriate container
  • For FTA card, use one drop of blood

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing hypophosphatemic rickets and preventing complications. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw or DNA Extraction

Understanding Your Results

Results indicate the presence or absence of mutations in the CLCN5 gene.
Positive for pathogenic mutation
Negative for mutations
Variant of uncertain significance
⚠️ When to Consult a Doctor:

If symptoms of hypophosphatemic rickets are present or if there is a family history of the disorder.

Frequently Asked Questions

What is CLCN5 Gene Hypophosphatemic Rickets?
It is a rare genetic disorder caused by mutations in the CLCN5 gene, leading to low phosphate levels and affecting bones and teeth.
What are the symptoms of this disorder?
Common symptoms include bowed legs, knee pain, short stature, weak bones, and delayed tooth eruption.
How is CLCN5 Gene Hypophosphatemic Rickets diagnosed?
Diagnosis involves physical examination, medical history, genetic testing, and X-rays to assess bone density.
What is the cost of the NGS Genetic Test?
The test costs INR 20000 in India.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Reports are typically available in 3 to 4 weeks.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
What is the turnaround time for reports?
The turnaround time is 3 to 4 weeks.
Who should consider this test?
Individuals with symptoms of hypophosphatemic rickets or a family history of the disorder.
What are the treatment options after diagnosis?
Treatment may include phosphate supplements, vitamin D analogs, and monitoring by a healthcare provider.
Is genetic counseling recommended?
Yes, genetic counseling is recommended to understand results and family implications.
How accurate is the NGS Genetic Test?
NGS technology provides high accuracy for detecting gene mutations, but interpretation should be done by a genetic specialist.
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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