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SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria NGS Genetic Test

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SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria NGS Genetic Test

Short Name: SLC34A3 Gene Test

Also known as: SLC34A3 Mutation Analysis, Hereditary Hypophosphatemic Rickets Test

SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria 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 3, 2026

Overview

To identify mutations in the SLC34A3 gene responsible for hypophosphatemic rickets with hypercalciuria, aiding in accurate diagnosis, treatment planning, genetic counseling, and family risk assessment.

Test Code
4972
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. No fasting required.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or a drop on an FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples at ambient room temperature as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, family history, and obtain informed consent.
2
During the Test:Sample collection is quick and minimally invasive, performed by a certified professional.
3
After the Test:Results are reviewed by geneticists, and a detailed report is provided with recommendations.

About This Test

Who Should Get This Test

To identify mutations in the SLC34A3 gene responsible for hypophosphatemic rickets with hypercalciuria, aiding in accurate diagnosis, treatment planning, genetic counseling, and family risk assessment.

How to Prepare

  • Ensure proper identification and labeling of samples
  • Use sterile collection tubes or FTA cards
  • Transport samples to the lab within specified stability periods

Doctor's Notes

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

"Early genetic diagnosis of SLC34A3 mutations can guide personalized treatment, prevent complications, and inform family planning for hereditary rickets."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood samples: stable for 48 hours at room temperature
FTA cards: stable for weeks if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrectly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SLC34A3 gene. Positive findings confirm a genetic diagnosis, while negative results may require further testing.
Pathogenic variant detected: Confirms diagnosis; refer for treatment and genetic counseling.
No pathogenic variant detected: Consider other genetic or non-genetic causes; clinical correlation advised.
Variant of uncertain significance: May require family studies or functional analysis for clarification.
⚠️ When to Consult a Doctor:

Consult a healthcare provider if you experience symptoms like bone pain, fractures, or growth issues, or if you have a family history of rickets. Genetic counseling is recommended before and after testing.

Limitations

  • ⚠May not detect all genetic variants due to technological constraints
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Does not rule out other genetic causes of rickets

Risks & Considerations

  • ●Minimal physical risks from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results
  • ●Risk of misinterpretation without professional guidance

Interfering Factors

  • ●Contaminated or degraded DNA samples
  • ●Recent blood transfusions may affect results
  • ●Technical errors in sample handling or sequencing

Compare With Similar Tests

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ComparisonSLC34A3 Gene Hypophosphatemic rickets with hypercalciuria NGS Genetic Test

Frequently Asked Questions

What is the SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the SLC34A3 gene, which causes a rare disorder affecting phosphate reabsorption in the kidneys, leading to rickets and hypercalciuria.
How much does the test cost in India?
The test costs INR 20000.0, with free home sample collection available across India.
What sample is required for this test?
The test can be performed using blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What are the symptoms of hypophosphatemic rickets with hypercalciuria?
Common symptoms include bone pain, weakness, bowing of the legs, short stature, and frequent fractures.
How accurate is the NGS genetic test?
NGS technology provides high accuracy in detecting mutations, but results should be interpreted by genetic specialists in clinical context.
Can children undergo this test?
Yes, the test is suitable for all ages, including children, especially if symptoms or family history are present.
What if the test results are positive?
A positive result confirms a genetic diagnosis, allowing for targeted treatment, monitoring, and genetic counseling for family planning.
Is genetic counseling provided with the test?
Yes, DNA Labs India includes genetic counseling support to help interpret results and guide next steps.
How do I book the SLC34A3 Gene Test?
You can book the test online through DNA Labs India's website or contact their customer service for assistance.
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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