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SLC34A1 Gene Fanconi renotubular syndrome type 2 NGS Genetic Test

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SLC34A1 Gene Fanconi renotubular syndrome type 2 NGS Genetic Test

Short Name: SLC34A1 Fanconi Syndrome Type 2 NGS Test

Also known as: SLC34A1-related Fanconi syndrome, Type 2 Fanconi renotubular syndrome, Renal tubular disorder type 2

SLC34A1 Gene Fanconi renotubular syndrome type 2 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.

NGS Genetic TestAll ages, typically infancy or early childhood🏠 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 mutations in the SLC34A1 gene for accurate diagnosis of Fanconi Renotubular Syndrome Type 2, aiding in clinical management, genetic counseling, and family planning.

Test Code
5384
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 detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Sample transported to the laboratory under ambient room temperature conditions for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before testing.
2
During the Test:Blood sample collection is a simple procedure with minimal discomfort.
3
After the Test:Results are available in 3-4 weeks, with genetic counseling provided for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the SLC34A1 gene for accurate diagnosis of Fanconi Renotubular Syndrome Type 2, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Clinical History of Patient who is going for SLC34A1 Gene Fanconi renotubular syndrome type 2 NGS Genetic Test
  • A Genetic Counselling session to draw a pedigree chart of family members affected with SLC34A1 Gene Fanconi renotubular syndrome type 2 NGS Genetic Test

Doctor's Notes

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

"This NGS test is vital for confirming genetic causes of renal tubular disorders, enabling targeted management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Blood sample stable at room temperature for 24 hours
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples
  • Contaminated samples

Understanding Your Results

Results are interpreted based on the detection of mutations in the SLC34A1 gene, with correlation to clinical symptoms and family history.
Positive Result: Pathogenic or likely pathogenic mutation detected, confirming diagnosis of Fanconi Renotubular Syndrome Type 2.
Negative Result: No detectable mutation in the SLC34A1 gene; clinical correlation is advised as symptoms may be due to other causes.
Variant of Uncertain Significance (VUS): Mutation detected but significance unclear; further testing or family studies may be recommended.
⚠️ When to Consult a Doctor:

If symptoms of Fanconi syndrome are present, such as excessive urination, thirst, growth issues, or bone deformities, or for genetic counseling after a positive test result.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Variants of uncertain significance may require further testing or clinical correlation
  • ⚠Does not rule out other genetic or non-genetic causes of similar symptoms

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection
  • ●No significant risks associated with genetic testing itself

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Insufficient sample volume
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestSLC34A1 Gene Fanconi renotubular syndrome type 2 NGS Genetic TestSanger SequencingRenal Function PanelUrine Electrolyte Test
ComparisonSLC34A1 Gene Fanconi renotubular syndrome type 2 NGS Genetic Test

Frequently Asked Questions

What is Fanconi Renotubular Syndrome Type 2?
It is a rare genetic disorder caused by mutations in the SLC34A1 gene, leading to kidney dysfunction and excessive loss of nutrients in urine.
What are the common symptoms of this syndrome?
Symptoms include excessive urination, excessive thirst, growth retardation, bone deformities, rickets, and low levels of potassium, phosphate, and uric acid.
How is the SLC34A1 Gene NGS Genetic Test performed?
The test uses next-generation sequencing to analyze the SLC34A1 gene from a blood or DNA sample, detecting mutations with high accuracy.
What is the cost of the test?
The test costs INR 20000, which includes sample collection, analysis, and reporting.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results indicate?
A positive result confirms a genetic mutation in SLC34A1, while a negative result suggests no detectable mutation; variants of uncertain significance may require further evaluation.
Is the test covered by insurance?
Coverage varies by insurance plan; it is advisable to check with your provider. DNA Labs India offers transparent pricing.
Can this test be used for prenatal diagnosis?
Yes, with appropriate genetic counseling, it can be used for prenatal testing in families with a history of the syndrome.
What is the accuracy of the NGS test?
The test has high sensitivity and specificity (>99%) for detecting mutations in the SLC34A1 gene.
How should I prepare for the test?
No special preparation is needed, but providing clinical history and undergoing genetic counseling is recommended.
What files are provided with the test report?
DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical report for transparency.
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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