Polycystic Kidney Disease Gene Panel

Test Overview

The Polycystic Kidney Disease Gene Panel is a diagnostic genetic test that screens for mutations in genes known to cause PKD. It is typically done using a blood or saliva sample and focuses on identifying alterations in specific genes such as:

• PKD1 and PKD2: The most common genes associated with autosomal dominant polycystic kidney disease (ADPKD).
• GANAB and DNAJB11: Associated with milder or atypical forms of PKD.
• PKHD1: Linked to autosomal recessive polycystic kidney disease (ARPKD), usually affecting children.

The test is conducted using next-generation sequencing (NGS), which enables a comprehensive analysis of these genes for mutations, deletions, or duplications.

Price of Polycystic Kidney Disease Gene Panel

The cost of the Polycystic Kidney Disease Gene Panel can vary depending on several key factors. While the test offers invaluable insights into a person’s genetic predisposition to PKD, its pricing is influenced by various clinical, technological, and logistical elements.

Here are the main factors that affect the price of the Polycystic Kidney Disease Gene Panel:

• Technology Used: Next-Generation Sequencing (NGS) is the most advanced and commonly used technology for gene panels. The sophistication of the sequencing platform used (e.g., whole-exome vs. targeted panel) impacts cost. Additional testing like deletion/duplication analysis or confirmatory Sanger sequencing can increase the overall price.
• Laboratory Expertise and Accreditation: Tests conducted by internationally accredited or specialty genetic laboratories may have higher pricing due to stringent quality standards and expert analysis. Reputation and experience of the diagnostic lab can also play a role in cost variation.
• Sample Type and Handling: While blood is the most common sample type, alternatives like saliva or buccal swabs might require different handling protocols, which can influence pricing.
• Turnaround Time: Faster reporting timelines, such as expedited testing, usually come at a premium compared to standard processing durations.
• Geographic Location: Pricing may vary based on the region or city due to logistical costs, lab availability, and local regulations.

Understanding these factors helps in making an informed decision when choosing where and how to get tested. Always consult with a healthcare provider or genetics expert to determine which panel best fits your needs.

Purpose of Polycystic Kidney Disease Gene Panel

The primary goal of this gene panel is to detect mutations that cause PKD, enabling early diagnosis, risk assessment, and better disease management. Here’s how the test can be beneficial:

1. Early Diagnosis

• Identifies PKD before symptoms appear
• Enables close monitoring to delay progression

2. Prognostic Value

• Determines severity based on genetic mutation
• Helps in predicting the rate of kidney deterioration

3. Family Planning

• Supports couples in understanding the risk of passing the disorder to their children

4. Targeted Treatment

• Tailors clinical care based on genetic profile

Who Should Get Polycystic Kidney Disease Gene Panel?

The Polycystic Kidney Disease Gene Panel is recommended for individuals who fall under any of the following categories:

1. Family History of PKD

If a first-degree relative has been diagnosed with PKD

2. Unexplained Kidney Cysts

Presence of multiple or bilateral kidney cysts, especially before age 40

3. Early-Onset Hypertension or Kidney Issues

Young individuals with signs of kidney dysfunction

4. Children of PKD Patients

To assess inheritance risk and enable early intervention

5. Prenatal or Preimplantation Testing

For couples undergoing IVF or concerned about genetic transmission

Components of Polycystic Kidney Disease Gene Panel

The Polycystic Kidney Disease Gene Panel is a comprehensive genetic test specifically designed to detect mutations in genes known to cause polycystic kidney disease (PKD). This single test analyzes multiple genes using advanced sequencing techniques to provide an accurate assessment of genetic risk.

Key Component:

Polycystic Kidney Disease Gene Panel

This panel includes the analysis of several genes commonly associated with both autosomal dominant and autosomal recessive forms of PKD. It helps identify mutations that may lead to cyst formation and progressive kidney damage.

This panel provides a holistic view of genetic mutations contributing to PKD, enabling timely diagnosis, personalised care, and informed family planning.

Understanding Polycystic Kidney Disease Gene Panel Report

The Polycystic Kidney Disease Gene Panel focuses on identifying and interpreting genetic variants found in key PKD-associated genes. Each detected variant is classified based on its potential to cause disease, using internationally accepted guidelines. Variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, or benign, depending on their nature, location, and known impact on kidney function.

The analysis also includes information on the type of mutation (e.g., missense, nonsense, deletion), zygosity (whether one or both gene copies are affected), and how these findings correlate with any available clinical or family history. This helps determine the likelihood of disease presence or progression and guides next steps such as clinical monitoring, family member testing, or genetic counseling.

Preparation and Procedure of Polycystic Kidney Disease Gene Panel

Preparing for a PKD gene panel test is straightforward and minimally invasive.

Preparation:

• No fasting required
• Inform your doctor about medications or family medical history
• Genetic counseling may be advised before the test

Sample Collection:

Type: Blood (preferred) or saliva sample

Procedure:

• Blood is drawn from a vein in the arm
• Sample is labeled and sent to a genetic lab
• DNA is extracted and analyzed using sequencing methods

Turnaround Time:

Typically 2–4 weeks for results

Post-Test Process:

Discuss results with a genetic counselor or nephrologist

Plan follow-up testing or monitoring as advised

Booking Polycystic Kidney Disease Gene Panel Online at Apollo 24|7

Booking a genetic test like the PKD gene panel has never been easier, thanks to digital health platforms like Apollo 24|7. Here's how you can book the test:

• Visit Apollo 24|7 Website or open the Apollo 24|7 app
• Search for “Polycystic Kidney Disease Gene Panel”
• Select the test and preferred location (home collection or visit)
• Choose Date & Time for sample collection
• Make Payment securely through the platform
• Receive Confirmation via SMS/email