Xanthinuria Gene Panel by NGS Test
Xanthinuria gene panel Price
Brief Details
What is the Xanthinuria Gene Panel by NGS Test?
The Xanthinuria Gene Panel by NGS Test is a genetic blood test used to diagnose hereditary xanthinuria, a rare inherited metabolic disorder that affects how your body breaks down purines. This condition leads to the accumulation of xanthine, which can form kidney stones and cause urinary tract or kidney complications.
The test analyses the XDH gene using next generation sequencing technology. Identifying a disease causing genetic variant helps confirm the diagnosis, differentiate xanthinuria from other metabolic disorders, and guide long-term care. The test requires a blood sample collected in an EDTA tube.
What Does the Xanthinuria Gene Panel by NGS Test Measure?
This genetic test looks for disease-causing changes in the gene responsible for xanthine metabolism:
- Detects pathogenic variants in the XDH gene linked to hereditary xanthinuria
- Helps confirm the genetic cause of recurrent kidney stones with low uric acid levels
- Differentiates xanthinuria from other purine metabolism disorders
- Supports genetic counselling and family screening
- Guides dietary and treatment planning to prevent complications
Xanthinuria Gene Panel by NGS Test: Who Needs It and Why It’s Done
What Symptoms May Call for a Xanthinuria Gene Panel by NGS Test?
Doctors may recommend this test if you or your child experience:
- Recurrent kidney stones, especially from a young age
- Low or absent uric acid levels on blood tests
- Blood in urine without an obvious cause
- Kidney pain or urinary tract obstruction
- Muscle pain or weakness triggered by physical exertion
Who Should Get a Xanthinuria Gene Panel by NGS Test?
This test may be advised for:
- Individuals with unexplained kidney stones and low uric acid
- Children with early onset urinary stone disease
- Patients suspected of having inherited metabolic disorders
- Families with a known history of xanthinuria
- Couples seeking genetic counselling for inherited metabolic conditions
Why is the Xanthinuria Gene Panel by NGS Test Done?
The test helps confirm a genetic diagnosis of xanthinuria, allowing doctors to prevent kidney damage through early dietary and medical interventions and provide accurate family counselling.
Xanthinuria Gene Panel by NGS Test Booking & Reports – Metropolis Healthcare
How to Book the Xanthinuria Gene Panel by NGS Test and Get Your Reports?
- Simple Online Booking
Booking can be done through the Metropolis Healthcare App or website. Select the Xanthinuria Gene Panel by NGS Test, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection. - Safe Home Sample Collection
Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols. - Sample Tracking Updates
You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform. - Accurate Laboratory Testing
Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology. - Quick and Easy Reports
Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.
Is Home Sample Collection for Xanthinuria Gene Panel by NGS Test Available Near You?
Yes, Metropolis Healthcare offers home sample collection for the Xanthinuria Gene Panel by NGS Test. This service saves you time, reduces the need for travel, and ensures professional sample handling while maintaining strict quality standards.
In How Much Time Will I Get the Xanthinuria Gene Panel by NGS Test Report?
Reports are usually available after 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.
Where Can I See or Get Xanthinuria Gene Panel by NGS Test Results?
You can access your test reports through the Metropolis Healthcare website or mobile app using your login credentials. Reports are also sent via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.
Interpreting Xanthinuria Gene Panel by NGS Test Results
What Your Xanthinuria Gene Panel Results May Indicate
| Parameter | Expected Finding | Pathogenic Variant Detected May Indicate | No Variant Detected May Indicate |
|---|---|---|---|
| XDH gene | No disease causing variant detected | Confirmed hereditary xanthinuria | Symptoms may be due to non genetic causes or variants not detected by this analysis |
Understanding Abnormal Xanthinuria Gene Panel Results by Gene
| Gene | What a Pathogenic Variant May Indicate |
|---|---|
| XDH | Defective xanthine dehydrogenase leading to xanthine accumulation and kidney stone formation |
How Should You Prepare for a Xanthinuria Gene Panel by NGS Test?
This genetic test requires minimal preparation from your side:
- No fasting required: You can eat and drink normally before sample collection
- Normal hydration: Maintain your usual fluid intake
- Medication disclosure: Inform your doctor about any medicines or supplements you are taking
- Share clinical history: Provide relevant medical and family history as advised
- Consent and documentation: Ensure the test requisition form and genetic history details are completed
How Is a Xanthinuria Gene Panel by NGS Test Done? (Step-by-Step Procedure)
The test is performed using a standard blood collection process:
- Preparation: A tourniquet is tied around your arm to make veins more visible
- Cleaning: The puncture site is cleaned with antiseptic
- Sample Collection: A sterile needle is used to draw about 3 to 5 ml of blood into an EDTA vacutainer
- Completion: The needle is removed, and a bandage is applied
- Processing: The sample undergoes next generation sequencing to analyse the XDH gene
Conditions That May Affect Xanthinuria Gene Panel by NGS Test Accuracy
Certain patient related factors may influence test interpretation:
- Recent blood transfusion, which may affect genetic analysis
- Incomplete or inaccurate family history details
- Presence of mosaic genetic changes that may require clinical correlation
Diseases That the Xanthinuria Gene Panel by NGS Test Can Help Detect
- Hereditary xanthinuria
- Genetic purine metabolism disorders
- Inherited causes of recurrent kidney stones
References
- Ichida K., Matsumura T., Sakuma R., et al. (1997). Xanthinuria type I caused by mutations of xanthine dehydrogenase gene. Journal of Clinical Investigation, 99(10), 2391–2397. PMID: 9153284
- Simmonds H.A., Reiter S., Nishino T. (1995). Hereditary xanthinuria: Clinical features and molecular basis. Journal of Inherited Metabolic Disease, 18(4), 457–463. PMID: 7494422
- Arikyants N., Sarkissian A., Gabrelyan M., et al. (2007). Xanthinuria: A rare cause of nephrolithiasis. Nephrology Dialysis Transplantation, 22(8), 2295–2299. PMID: 17488702
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