Polycystic Kidney Disease Gene Panel Test: Booking, Price, and Results
About Polycystic Kidney Disease Gene Panel Test
| Field | Value |
|---|---|
| Also Known As | PKD gene panel, Polycystic kidney disease genetic panel, ADPKD gene panel, PKD1/PKD2 panel, Cystic kidney disease gene panel |
| Sample Type | Peripheral blood (EDTA tube), buccal swab/saliva, Chorionic Villus Sampling (CVS), amniotic fluid |
| Fasting Required | No |
| Report Time | 35 Days |
| Recommended For | Adults of both sexes with suspected PKD, family history of PKD, potential kidney donors, and individuals requiring diagnostic confirmation |
| Price | Starting at ₹21,600 |
What is a Polycystic Kidney Disease Gene Panel Test?
The polycystic kidney disease gene panel test is a genetic test that looks for mutations in genes known to cause PKD, a condition where fluid-filled cysts develop in the kidneys. It is prescribed by doctors when a patient has symptoms of PKD, a family history of the condition, or unusual kidney findings on imaging. Also known as the PKD gene panel or ADPKD gene panel, this test uses next-generation sequencing (NGS) to analyse the relevant genes in detail.
What Does a Polycystic Kidney Disease Gene Panel Test Measure?
This test screens several genes that are linked to different forms of polycystic kidney disease. Each gene provides specific information about the type and likely severity of the condition. The key genes analysed include:
| Gene | Association |
|---|---|
| PKD1 (Polycystin-1 gene) | Found on chromosome 16; responsible for around 78% of autosomal dominant PKD (ADPKD) cases and linked to more severe disease progression |
| PKD2 (Polycystin-2 gene) | Found on chromosome 4; accounts for around 15% of ADPKD cases and typically follows a milder course |
| GANAB and DNAJB11 | Associated with milder or atypical forms of PKD |
| PKHD1 | Linked to autosomal recessive polycystic kidney disease (ARPKD), which usually affects children and is inherited differently from ADPKD |
| DZIP1L, HNF1B, UMOD | Additional genes that may be included depending on the panel configuration |
Why is a Polycystic Kidney Disease Gene Panel Test Done?
A doctor may order this test for several reasons, including confirming a suspected diagnosis, evaluating a potential kidney donor, or planning for a family.
Common Symptoms That May Require This Test
- High blood pressure (hypertension) without a clear cause
- Pain on the sides of the body between the lower ribs and hips (flank pain)
- Blood in the urine (haematuria)
- Progressive decline in kidney function
- Abdominal masses or a feeling of fullness
- Frequent urinary tract infections
- Kidney stones (nephrolithiasis)
Conditions This Test Can Help Detect
- Autosomal dominant polycystic kidney disease (ADPKD): Multiple cysts in the kidneys and liver, typically presenting in adulthood
- Autosomal recessive polycystic kidney disease (ARPKD): Usually detected in the womb or shortly after birth, with enlarged kidneys
- Other cystic kidney conditions that may resemble PKD on imaging
How to Prepare and What to Expect
Preparation for this test is straightforward, but bringing the right documentation is important for accurate results.
Do You Need to Fast?
No fasting is required before this test. You can eat and drink normally on the day of sample collection.
Practical Tips Before Your Test
- Bring a detailed clinical history, including your symptoms, previous test results, and family history of kidney disease, as this is required for the test
- Inform your doctor if you have had a recent blood transfusion or a bone marrow transplant, as donor DNA in your sample may affect results
- Genetic counselling before testing is recommended so you understand what the results may mean for you and your family
- Wear comfortable clothing with easy access to your arm if a blood draw is needed
Step-by-Step Procedure
PKD gene panel test may use different sample types depending on the clinical indication. Home collection may be available for peripheral blood or saliva samples. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision. Genetic counselling may be recommended before and after testing.
Peripheral Blood Collection
- A trained healthcare professional confirms the patient’s identity before sample collection.
- The skin over the collection site is cleaned with an antiseptic solution.
- A small blood sample is collected from a vein using a sterile needle.
- The sample is collected in an EDTA tube (purple/lavender-top tube).
- The sample is labelled and transported to the laboratory.
Buccal Swab/Saliva Collection
- A healthcare professional or trained staff member collects the sample.
- For a buccal swab, a soft swab is gently rubbed inside the cheek to collect cells.
- For saliva collection, the patient provides a saliva sample in a sterile container.
- The sample is labelled and sent to the laboratory.
Chorionic Villus Sampling (CVS)
- The doctor explains the procedure and obtains informed consent before collection.
- A trained specialist collects a small placental tissue sample called chorionic villi under ultrasound guidance.
- The sample is placed in a sterile container and transported to the laboratory.
Amniotic Fluid Collection
- The abdomen is cleaned with an antiseptic solution before the procedure.
- Under ultrasound guidance, a trained specialist collects a small amount of amniotic fluid (fluid surrounding the baby during pregnancy) using a sterile needle.
- The sample is transferred to a sterile tube and sent to the laboratory.
Factors That Can Affect Accuracy
The following factors may influence the reliability of results:
- Recent blood transfusion or bone marrow transplant, introducing donor DNA into the sample
- Pseudogene interference in the PKD1 gene region can reduce detection sensitivity in some sequencing methods
- Somatic mosaicism (where only some cells carry the mutation), which may be missed in certain samples
- Insufficient clinical or family history information was provided at the time of testing
- Rare genetic variants for which limited published data exist
Understanding Your Polycystic Kidney Disease Gene Panel Test Results
This is a qualitative genetic test, meaning it does not produce numerical values. Instead, results are classified based on the type and likely impact of any genetic variant found. Your doctor or a genetic counsellor will explain what the findings mean for you.
| Classification | What it Means |
|---|---|
| Pathogenic | A disease-causing mutation has been identified |
| Likely Pathogenic | A mutation very likely to cause disease has been found |
| Variant of Uncertain Significance (VUS) | A genetic change of unknown clinical significance; further family testing may be needed |
| Likely Benign | The variant found is unlikely to cause disease |
| Benign | No disease association; the variant is not linked to PKD |
These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Certain situations can make results more complex to interpret:
Up to 15% of PKD cases arise from a new (de novo) mutation not inherited from either parent. A negative family history does not rule out a genetic cause.
Patients who have had a bone marrow transplant or a recent blood transfusion may have mixed DNA in their sample, which can affect the accuracy of the result.
Somatic mosaicism, where the mutation is present in only some cells, may occasionally lead to a result that does not fully reflect the genetic picture.
How to Maintain Healthy Levels
These general wellness tips support kidney health, particularly if you have a family history of PKD:
- Limit sodium (salt) intake to under 2 grams per day, as recommended for people with ADPKD
- Aim to keep blood pressure within a healthy range through a balanced diet, regular physical activity, and stress management
- Discuss regular kidney monitoring with your doctor if you have a family history of polycystic kidney disease
Lupin Diagnostics Polycystic Kidney Disease Gene Panel Test Price and Home Collection
The polycystic kidney disease gene panel test cost at Lupin Diagnostics starts at ₹21,600. Home collection may be available for eligible sample types such as peripheral blood or saliva. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 21600 |
| CHENNAI | 21600 |
| HYDERABAD | 21600 |
| KOLKATA | 21600 |
| NAVI MUMBAI | 21600 |
| PUNE | 21600 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to book your polycystic kidney disease gene panel test online:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Home collection may be available for eligible sample types such as peripheral blood or saliva. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Lupin Diagnostics offers home collection for eligible sample types across multiple cities. Specialised prenatal samples such as CVS or amniotic fluid require collection at authorised healthcare facilities. All samples are processed in NABL-accredited laboratories by experienced specialists. Digital reports are shared via email or WhatsApp once ready.
Frequently Asked Questions
This test is recommended for individuals with kidney cysts but no known family history of PKD, potential kidney donors under 40 with an affected family member, and people with early-onset or atypical PKD presentations. It is also considered in family planning situations where there is a known risk of passing the condition to a child.
Results are typically available within 35 days at Lupin Diagnostics. Some laboratories may offer faster turnaround times depending on the panel used and current processing volumes.
The polycystic kidney disease gene panel test procedure involves collecting a biological sample, which may include a CVS sample, blood, or saliva, depending on the clinical situation. The sample is then analysed using next-generation sequencing (NGS) at a specialised genetics laboratory.
To some extent, yes. Research shows that patients with PKD1 gene mutations, particularly those that truncate (shorten) the protein, tend to develop end-stage kidney disease earlier than those with other PKD1 mutations or PKD2 mutations. Your doctor can discuss what a specific result may mean for your individual situation.
Genetic counselling is strongly recommended both before and after testing. A counsellor can explain what a positive, negative, or uncertain result may mean for your health and your family members. They can also discuss potential implications, such as insurance considerations.
A VUS means a genetic change was found, but there is currently not enough information to confirm whether it causes disease. Your doctor may suggest testing close family members to help clarify the result. Laboratories also review and update variant classifications as new research becomes available.
A negative result means no disease-causing mutation was found in the genes tested. However, this does not completely rule out PKD, as some mutations have not yet been identified by current testing methods. If symptoms or imaging suggest PKD, your doctor will continue investigations and monitoring.
Polycystic Kidney Disease Gene Panel Test: Booking, Price, and Results
