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SLC4A4 Gene Renal tubular acidosis, proximal, with ocular abnormalities NGS Genetic Test

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SLC4A4 Gene Renal tubular acidosis, proximal, with ocular abnormalities NGS Genetic Test

Short Name: SLC4A4 Proximal RTA NGS Test

Also known as: Proximal RTA with Ocular Abnormalities, SLC4A4-related Renal Tubular Acidosis

SLC4A4 Gene Renal tubular acidosis, proximal, with ocular abnormalities 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 7, 2026

Overview

The purpose of this test is to identify mutations in the SLC4A4 gene that cause proximal renal tubular acidosis with ocular abnormalities, enabling accurate diagnosis, family screening, and personalized treatment planning.

Test Code
5513
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

No specific preparation required. Provide clinical history and family pedigree.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a healthcare provider for test recommendation.
2
During the Test:Sample collection procedure.
3
After the Test:Wait for results and follow up with genetic counseling.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the SLC4A4 gene that cause proximal renal tubular acidosis with ocular abnormalities, enabling accurate diagnosis, family screening, and personalized treatment planning.

How to Prepare

  • Ensure proper labeling of samples
  • Use sterile collection tubes
  • Transport samples at ambient temperature

Doctor's Notes

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

"Genetic testing for SLC4A4 mutations is crucial for confirming proximal RTA with ocular abnormalities and guiding treatment, especially in families with a history of the condition."

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 as per FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spot

Sample Stability

Blood in EDTA
FTA card
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SLC4A4 gene.
📊

Pathogenic variant detected

Confirms diagnosis of proximal RTA with ocular abnormalities. Genetic counseling recommended.

📊

No pathogenic variant detected

Does not rule out the condition; consider other genetic or non-genetic causes.

⚠️ When to Consult a Doctor:

If symptoms persist or if genetic counseling is needed for family planning.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires interpretation by a geneticist
  • ⚠Not a standalone diagnostic tool; clinical correlation needed

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●No significant risks from genetic testing itself

Interfering Factors

  • ●Sample contamination
  • ●Technical errors in sequencing
  • ●Insufficient DNA quality

Compare With Similar Tests

TestSLC4A4 Gene Renal tubular acidosis, proximal, with ocular abnormalities NGS Genetic Test
ComparisonSLC4A4 Gene Renal tubular acidosis, proximal, with ocular abnormalities NGS Genetic Test

Frequently Asked Questions

What is the SLC4A4 Gene Renal Tubular Acidosis Test?
It is an NGS genetic test that detects mutations in the SLC4A4 gene, causing proximal renal tubular acidosis with ocular abnormalities.
Who is this test recommended for?
Individuals with symptoms of proximal RTA, ocular abnormalities, or a family history of the condition.
What are the symptoms of proximal RTA with ocular abnormalities?
Symptoms include weakness, fatigue, nausea, dehydration, bone pain, and eye problems like cataracts.
How is the genetic test performed?
A blood or DNA sample is collected and analyzed using next-generation sequencing technology.
What is the cost of the SLC4A4 Gene Test in India?
The test costs INR 20,000 at DNA Labs India.
Is home sample collection available for this test?
Yes, free home sample collection is available across India for online bookings.
How long does it take to receive the test results?
Results are typically available in 3 to 4 weeks.
What do the test results indicate?
Results show the presence or absence of pathogenic mutations in the SLC4A4 gene, confirming diagnosis.
Are there any risks or side effects of the test?
Risks are minimal, such as bruising from blood draw; no significant side effects from genetic testing.
Can this test be used for prenatal or preimplantation diagnosis?
Consult a geneticist for prenatal or preimplantation options, as this test is primarily for postnatal diagnosis.
What is the accuracy of the NGS genetic test?
NGS technology is highly accurate for detecting gene mutations, but interpretation requires expert analysis.
How can I book an appointment for the test?
Book online via 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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