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UMOD Gene Medullary cystic kidney disease type 2 NGS Genetic Test

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UMOD Gene Medullary cystic kidney disease type 2 NGS Genetic Test

Short Name: UMOD MCKD2 NGS Test

Also known as: UMOD Gene Test, MCKD2 Genetic Test, Medullary Cystic Kidney Disease Type 2 Test

UMOD Gene Medullary cystic kidney disease type 2 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

To diagnose Medullary Cystic Kidney Disease Type 2 by detecting mutations in the UMOD gene using NGS technology, enabling early intervention and genetic counseling.

Test Code
5455
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 family pedigree. No specific preparation required, but consult with a genetic counselor if possible.

Method: Venipuncture for blood, or FTA card for one drop blood

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture or use an FTA card for one drop blood.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the sample at ambient room temperature for transport.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the implications and provide detailed family history.
2
During the Test:Sample collection is quick and minimally invasive. Analysis is performed in the lab using NGS technology.
3
After the Test:Receive the report via online portal, email, or WhatsApp. Discuss results with your healthcare provider for next steps.

About This Test

Who Should Get This Test

To diagnose Medullary Cystic Kidney Disease Type 2 by detecting mutations in the UMOD gene using NGS technology, enabling early intervention and genetic counseling.

How to Prepare

  • Bring identification and doctor's prescription
  • Ensure sample is properly labeled
  • Avoid hemolysis during blood collection

Doctor's Notes

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

"This test is crucial for early diagnosis of MCKD2, allowing for timely management to prevent kidney failure and guide family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood, or FTA card for one drop blood

Sample Stability

Blood samples stable at room temperature for 24 hours
FTA cards stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Contaminated or improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the UMOD gene associated with Medullary Cystic Kidney Disease Type 2.
📊

Positive for pathogenic variant

Diagnosis of MCKD2 confirmed. Genetic counseling and nephrology consultation recommended for management and family screening.

📊

Negative for pathogenic variant

No mutations detected in the UMOD gene. Clinical correlation advised if symptoms persist, as other causes may be involved.

📊

Variant of uncertain significance

Further testing or family studies may be needed. Consult with a geneticist for guidance.

⚠️ When to Consult a Doctor:

If you experience symptoms like high blood pressure, proteinuria, or decreased urine output, or if you have a family history of kidney disease.

Limitations

  • ⚠May not detect all possible mutations in the UMOD gene
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, requiring counseling
  • ●Potential for genetic discrimination, though protected by laws in some regions

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample handling

Compare With Similar Tests

TestUMOD Gene Medullary cystic kidney disease type 2 NGS Genetic TestRenal Function TestKidney BiopsyRenal UltrasoundUromodulin Level Test
ComparisonUMOD Gene Medullary cystic kidney disease type 2 NGS Genetic Test

Frequently Asked Questions

What is Medullary Cystic Kidney Disease Type 2 (MCKD2)?
MCKD2 is a rare genetic disorder caused by mutations in the UMOD gene, leading to cyst formation in the kidney medulla and progressive kidney failure.
What causes MCKD2?
MCKD2 is caused by mutations in the UMOD gene, which encodes the uromodulin protein. It is inherited in an autosomal dominant pattern.
What are the symptoms of MCKD2?
Symptoms may include high blood pressure, proteinuria, decreased urine output, frequent urination, urinary tract infections, and abdominal pain, often developing later in life.
How is MCKD2 diagnosed?
Diagnosis involves medical history, physical examination, urinalysis, blood tests, imaging tests like ultrasound, and genetic testing such as the UMOD Gene NGS Test.
What is the UMOD Gene NGS Genetic Test?
It is a diagnostic test that uses Next-Generation Sequencing to analyze DNA for mutations in the UMOD gene, helping diagnose MCKD2 and identify at-risk individuals.
How is the test performed?
The test is performed on a blood sample or extracted DNA using NGS technology. Home sample collection is available across India.
What is the cost of the UMOD Gene Test?
The cost at DNA Labs India is INR 20,000, which includes home sample collection and genetic counseling report.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms a pathogenic mutation in the UMOD gene, indicating MCKD2. Genetic counseling and nephrology consultation are recommended.
Can MCKD2 be treated?
There is no cure for MCKD2, but early diagnosis allows for management of symptoms, blood pressure control, and planning for potential kidney replacement therapy.
Is genetic counseling recommended?
Yes, genetic counseling is highly recommended before and after testing to understand implications, family risks, and psychological support.
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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