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SLC26A6 Gene Hyperoxaluria, SLC26A6 related NGS Genetic Test

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SLC26A6 Gene Hyperoxaluria, SLC26A6 related NGS Genetic Test

Short Name: SLC26A6 NGS Genetic Test

Also known as: SLC26A6 Gene Sequencing Test, SLC26A6 Hyperoxaluria DNA Test, SLC26A6 Mutation Analysis, Hyperoxaluria Genetic Panel SLC26A6, SLC26A6 Oxalate Transport Defect Test

SLC26A6 Gene Hyperoxaluria, SLC26A6 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation 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.

Next-Generation Sequencing (NGS)Male / FemaleAll Ages🏠 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 the SLC26A6 Gene Hyperoxaluria NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the SLC26A6 gene that cause defective oxalate transport. This test aids in confirming a clinical diagnosis of SLC26A6-related hyperoxaluria, differentiating it from other genetic or secondary causes of hyperoxaluria, enabling targeted treatment and management, facilitating carrier detection in family members, and supporting genetic counselling and family planning decisions.

Test Code
2100
CPT Code
81479
ICD Code
E72.53
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), Sanger Confirmation
Step 1

Sample Collection

A Genetic Counselling session is recommended before sample collection to draw a detailed pedigree chart of family members affected with Hyperoxaluria or related metabolic disorders. Provide complete clinical history of the patient including prior imaging, biochemical oxalate levels, and family history.

Method: Venipuncture

Step 2

Laboratory Analysis

A 3-5 mL blood sample will be collected via venipuncture into an EDTA (lavender-top) vacutainer. Alternatively, extracted DNA or one drop of blood on an FTA card may be submitted. Home sample collection is available at no additional cost.

Step 3

Report Delivery

Label the sample correctly with patient details. Transport the sample at ambient room temperature. No refrigeration is required. The sample will be processed at our NABL-accredited molecular genetics laboratory.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counselling is recommended before testing. Provide detailed clinical history including kidney stone history, renal function tests, urinary oxalate levels, and a comprehensive family history. A pedigree chart should be drawn during the counselling session.
2
During the Test:A blood sample (3-5 mL in EDTA tube) or extracted DNA or FTA card blood spot will be collected. The sample undergoes DNA extraction, library preparation, and next-generation sequencing of the SLC26A6 gene.
3
After the Test:Results are typically available in 3 to 4 weeks. The report will include variant classification according to ACMG guidelines. Post-test genetic counselling is recommended to discuss results, implications, and management options. Raw Data, FASTQ, and VCF files are shared along with the clinical report.

About This Test

Who Should Get This Test

The purpose of the SLC26A6 Gene Hyperoxaluria NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the SLC26A6 gene that cause defective oxalate transport. This test aids in confirming a clinical diagnosis of SLC26A6-related hyperoxaluria, differentiating it from other genetic or secondary causes of hyperoxaluria, enabling targeted treatment and management, facilitating carrier detection in family members, and supporting genetic counselling and family planning decisions.

How to Prepare

  • Provide a signed consent form and clinical history before sample collection
  • Ensure the EDTA tube is gently inverted 8-10 times after collection
  • Do not freeze the blood sample
  • Transport at ambient room temperature within 48 hours of collection
  • If using an FTA card, allow the blood spot to air-dry completely before packaging
  • Genetic counselling session is recommended prior to testing

Doctor's Notes

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

"Hyperoxaluria due to SLC26A6 gene mutations can lead to recurrent calcium oxalate kidney stones, nephrocalcinosis, and progressive chronic kidney disease. Genetic confirmation through NGS testing allows us to differentiate this condition from other causes of hyperoxaluria such as AGXT or GRHPR-related types. Early identification enables targeted management including aggressive hydration, dietary oxalate restriction, citrate therapy, and in severe cases, consideration of pyridoxine or combined liver-kidney transplant strategies. I strongly recommend genetic testing for any patient with recurrent nephrolithiasis, unexplained renal failure, or a family history of kidney stones."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample Volume3-5 mL EDTA Blood
ContainerEDTA (Lavender Top) Vacutainer
Collection MethodVenipuncture

Sample Stability

EDTA Blood at Room Temperature
EDTA Blood at 2-8°C
Extracted DNA at -20°C
FTA Card (dried blood spot)
Sample Rejection Criteria:
  • Sample collected in heparin tube
  • Haemolysed or clotted sample
  • Insufficient sample volume
  • Sample without proper labelling or patient identification
  • Sample received more than 48 hours after collection without refrigeration

Understanding Your Results

The SLC26A6 Gene Hyperoxaluria NGS Genetic Test report will indicate whether pathogenic or likely pathogenic variants were identified in the SLC26A6 gene. Results should be interpreted by a qualified geneticist or nephrologist in conjunction with clinical findings and family history.
📊

Pathogenic Variant(s) Detected

Confirms a genetic diagnosis of SLC26A6-related hyperoxaluria. The patient carries mutation(s) that are known to cause defective oxalate transport. Clinical correlation and specialist management by a nephrologist are recommended.

📊

Likely Pathogenic Variant(s) Detected

Strongly suggests a genetic basis for hyperoxaluria. Additional clinical evaluation, family segregation studies, and follow-up genetic counselling are advised.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was identified but there is currently insufficient evidence to classify it as pathogenic or benign. Clinical correlation is essential. Re-analysis of data may be performed as new evidence becomes available.

📊

Likely Benign or Benign Variant(s) Detected

The detected variant(s) are not expected to cause disease. Clinical evaluation should continue to identify other causes of hyperoxaluria.

📊

No Pathogenic Variants Detected

No disease-causing mutations were identified in the SLC26A6 gene. This does not completely exclude a genetic cause if clinical suspicion remains high. Consider testing for other hyperoxaluria-associated genes (AGXT, GRHPR, HOGA1) or evaluating secondary causes.

⚠️ When to Consult a Doctor:

Consult a nephrologist or clinical geneticist if you experience recurrent calcium oxalate kidney stones, unexplained chronic kidney disease, elevated urinary oxalate levels, symptoms of systemic oxalosis, or if you have a family history of hyperoxaluria. Early diagnosis and intervention can prevent irreversible kidney damage.

Limitations

  • ⚠This test does not detect variants in deep intronic regions or regulatory elements outside the targeted regions
  • ⚠Structural rearrangements and trinucleotide repeat expansions may not be detected
  • ⚠The clinical significance of some detected variants (VUS) may be uncertain at the time of reporting
  • ⚠This test does not evaluate other genes associated with hyperoxaluria such as AGXT, GRHPR, or HOGA1 unless specifically ordered as a panel

Risks & Considerations

  • ●Minimal risk associated with blood draw — slight bruising or discomfort at the venipuncture site
  • ●Possible identification of variants of uncertain significance (VUS) that may cause anxiety
  • ●Emotional or psychological impact of genetic diagnosis on patient and family members
  • ●Potential implications for insurance and employment — consult genetic counsellor regarding genetic information protection

Interfering Factors

  • ●Degraded or insufficient DNA quality in the sample
  • ●Recent blood transfusion within the past 30 days
  • ●Contamination of the sample during collection or transport
  • ●Heparin anticoagulant interference with NGS chemistry

Compare With Similar Tests

TestSLC26A6 Gene Hyperoxaluria, SLC26A6 related NGS Genetic TestAGXT Gene (Primary Hyperoxaluria Type 1)GRHPR Gene (Primary Hyperoxaluria Type 2)HOGA1 Gene (Primary Hyperoxaluria Type 3)
ComparisonSLC26A6 Gene Hyperoxaluria, SLC26A6 related NGS Genetic Test

Frequently Asked Questions

What is SLC26A6 gene hyperoxaluria?
SLC26A6 gene hyperoxaluria is a rare inherited metabolic disorder caused by mutations in the SLC26A6 gene. This gene encodes an anion exchanger protein responsible for transporting oxalate in the kidneys and intestines. Mutations impair oxalate transport, leading to excess oxalate in the urine (hyperoxaluria), which can cause calcium oxalate kidney stones, nephrocalcinosis, chronic kidney disease, and systemic oxalosis.
What are the symptoms of SLC26A6 gene hyperoxaluria?
Common symptoms include recurrent calcium oxalate kidney stones, chronic kidney disease, nephrocalcinosis (calcium deposits in kidney tissue), abdominal pain, blood in the urine (haematuria), frequent urination, urinary tract infections, and in severe cases, calcium oxalate deposits in other organs such as the eyes, skin, heart, and bones (systemic oxalosis).
How is SLC26A6 gene hyperoxaluria diagnosed?
Diagnosis involves a combination of clinical evaluation, biochemical testing (24-hour urinary oxalate levels, plasma oxalate levels, renal function tests), imaging studies (renal ultrasound or CT scan for kidney stones), and genetic testing. The definitive diagnosis is confirmed through NGS genetic testing that identifies pathogenic mutations in the SLC26A6 gene.
What is NGS Genetic Testing and how does it work?
Next-Generation Sequencing (NGS) is an advanced DNA sequencing technology that can analyze multiple genes or even an entire genome simultaneously. For this test, NGS is used to sequence the complete coding region of the SLC26A6 gene to identify mutations. It offers high sensitivity, accuracy, and the ability to detect point mutations, small insertions, deletions, and splice-site variants.
What sample type is required for this test?
The test can be performed using 3-5 mL of peripheral blood collected in an EDTA (lavender-top) vacutainer tube. Alternatively, previously extracted DNA or one drop of blood on an FTA card can also be used. Home sample collection is available free of charge across India.
How long does it take to get the results?
The turnaround time for the SLC26A6 Gene Hyperoxaluria NGS Genetic Test is approximately 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the online portal, email, and WhatsApp.
Is the SLC26A6 NGS Genetic Test covered by insurance in India?
Genetic testing for SLC26A6 gene hyperoxaluria is generally not covered by most insurance policies in India, including PMJAY, CGHS, ECHS, ESIC, and most private insurance plans. Patients should be prepared to pay out of pocket. It is advisable to check with your insurance provider for specific coverage details.
What is the cost of the SLC26A6 Gene Hyperoxaluria NGS Genetic Test in India?
The cost of the SLC26A6 Gene Hyperoxaluria NGS Genetic Test at DNA Labs India is INR 20,000. This includes genetic counselling, sample collection, NGS sequencing, bioinformatics analysis, clinical report generation, and the provision of Raw Data, FASTQ, and VCF files. Free home sample collection is available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the SLC26A6 Gene Hyperoxaluria NGS Genetic Test. This service is available in hundreds of cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more. You can book your home collection online.
What should I do before getting the SLC26A6 genetic test?
Before getting tested, you should undergo a genetic counselling session where a detailed pedigree chart of family members affected with hyperoxaluria or related conditions will be drawn. Provide your complete clinical history including prior kidney stone episodes, renal function tests, urinary oxalate levels, and family history. No fasting is required for this test.
Can this test detect other types of hyperoxaluria?
No, this test specifically analyzes the SLC26A6 gene only. It does not detect mutations in other genes associated with hyperoxaluria such as AGXT (Primary Hyperoxaluria Type 1), GRHPR (Type 2), or HOGA1 (Type 3). For a comprehensive evaluation, consider ordering the Comprehensive Hyperoxaluria Gene Panel which covers all relevant genes.
What is the treatment for SLC26A6 gene hyperoxaluria?
Treatment focuses on reducing oxalate levels and preventing kidney stone formation. This includes aggressive hydration, dietary oxalate restriction (avoiding foods high in oxalate such as spinach, rhubarb, nuts, and chocolate), potassium citrate supplementation to inhibit calcium oxalate crystallization, and regular monitoring of kidney function. In severe cases with end-stage renal disease, combined liver-kidney transplantation may be considered. Management should be guided by a nephrologist experienced in metabolic kidney diseases.
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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