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PKD1L1 Gene Heterotaxy, visceral type 8, autosomal NGS Genetic Test

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PKD1L1 Gene Heterotaxy, visceral type 8, autosomal NGS Genetic Test

Short Name: PKD1L1 Heterotaxy Type 8 NGS Test

Also known as: Heterotaxy Type 8 Genetic Test, PKD1L1 Mutation Analysis, Visceral Heterotaxy NGS Test

PKD1L1 Gene Heterotaxy, visceral type 8, autosomal NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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 SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the PKD1L1 gene for the diagnosis of Heterotaxy, Visceral Type 8, aiding in clinical management and family planning.

Test Code
5765
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
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree information.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick onto FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as per instructions.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss test implications and family history.
2
During the Test:Sample collection procedure as per standard protocols.
3
After the Test:Results delivered in 3-4 weeks. Genetic counseling provided for result interpretation.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the PKD1L1 gene for the diagnosis of Heterotaxy, Visceral Type 8, aiding in clinical management and family planning.

How to Prepare

  • Ensure proper labeling of samples
  • Use sterile collection equipment
  • Transport samples at ambient temperature
  • Avoid hemolysis during collection

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This NGS test is essential for diagnosing Heterotaxy Type 8, enabling early intervention and management of associated organ abnormalities."

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 or finger-prick

Sample Stability

Blood: 7 days at room temperature
FTA card: Stable for years if stored properly
Sample Rejection Criteria:
  • Clotted or hemolyzed samples
  • Incorrect labeling
  • Insufficient sample volume
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PKD1L1 gene. Positive results confirm diagnosis, while negative results may require further testing.
📊

Positive

Pathogenic mutation detected, confirming Heterotaxy Type 8. Consult genetic counselor for management.

📊

Negative

No pathogenic variants found. Clinical correlation and additional tests may be needed.

📊

Variant of Uncertain Significance

Genetic variant identified but clinical significance unknown. Follow-up recommended.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatric specialist if symptoms like organ malposition, heart defects, or recurrent infections are present, or if family history suggests heterotaxy.

Limitations

  • ⚠May not detect all genetic variants or mosaicism
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings
  • ⚠Does not rule out other genetic conditions

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Insufficient sample volume
  • ●Recent blood transfusions
  • ●Improper sample storage

Frequently Asked Questions

What is PKD1L1 Gene Heterotaxy, Visceral Type 8?
It is a rare genetic disorder caused by mutations in the PKD1L1 gene, leading to abnormal positioning of internal organs and associated health complications.
What are the common symptoms of this condition?
Symptoms include abnormal organ positioning, heart defects, lung defects, digestive issues, splenic malformations, vascular anomalies, recurrent infections, and developmental delays.
How is the condition diagnosed?
Diagnosis involves physical examination, genetic testing (like NGS), imaging tests, ECG, and echocardiogram to assess organ structure and function.
What is the NGS Genetic Test for PKD1L1?
It is a Next-Generation Sequencing test that accurately detects mutations in the PKD1L1 gene, providing detailed genetic analysis for diagnosis.
What is the cost of the test in India?
The cost is approximately INR 20,000, with possible variations based on location and facility.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted for testing.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider this test?
Individuals with symptoms of heterotaxy, family history of the condition, or those recommended by a genetic counselor or specialist.
What does a positive result mean?
A positive result confirms the presence of a pathogenic PKD1L1 mutation, indicating Heterotaxy Type 8, and guides further medical management.
Is genetic counseling provided?
Yes, genetic counseling is included to help interpret results and discuss implications for family planning and treatment.
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.

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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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