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BCL9L Gene Heterotaxy, visceral, BCL9L related NGS Genetic Test

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BCL9L Gene Heterotaxy, visceral, BCL9L related NGS Genetic Test

Short Name: BCL9L Gene Heterotaxy Test

Also known as: BCL9L gene test for heterotaxy, Visceral heterotaxy genetic test

BCL9L Gene Heterotaxy, visceral, BCL9L related 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 TestPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the BCL9L Gene Heterotaxy Test is to identify mutations in the BCL9L gene that cause visceral heterotaxy, a rare developmental disorder. This genetic diagnosis aids in confirming the condition, guiding treatment plans, and providing genetic counseling for families.

Test Code
5767
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 undergo genetic counseling to draw a pedigree chart. Ensure sample is collected at ambient room temperature.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample is drawn via venipuncture or collected on an FTA card. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bleeding. Store the sample as instructed and transport to the laboratory promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and test implications. No specific preparation required.
2
During the Test:Sample collection via blood draw or FTA card. The test involves NGS technology in the laboratory.
3
After the Test:Wait for 3-4 weeks for results. Genetic counseling will be provided to explain findings.

About This Test

Who Should Get This Test

The purpose of the BCL9L Gene Heterotaxy Test is to identify mutations in the BCL9L gene that cause visceral heterotaxy, a rare developmental disorder. This genetic diagnosis aids in confirming the condition, guiding treatment plans, and providing genetic counseling for families.

How to Prepare

  • Use sterile equipment for blood collection
  • Label the sample correctly with patient details
  • Avoid hemolysis by handling the sample gently
  • For FTA card, ensure one drop of blood is applied correctly

Doctor's Notes

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

"Early genetic testing for BCL9L mutations can guide management and improve outcomes in heterotaxy cases, especially in pediatric patients."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerFTA Card or EDTA Tube
Collection MethodVenipuncture or FTA Card

Sample Stability

Room TemperatureUp to 48 hours for blood samples
FTA CardStable for extended periods if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect labeling or missing patient information

Understanding Your Results

Results from the BCL9L Gene Heterotaxy Test indicate the presence or absence of mutations in the BCL9L gene. A positive result confirms a genetic cause for heterotaxy, while a negative result may require further testing.
📊

Pathogenic variant detected

Confirms BCL9L-related heterotaxy; genetic counseling and management recommended.

📊

No pathogenic variant detected

BCL9L mutation unlikely; consider other genetic or non-genetic causes.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or pediatrician if symptoms of heterotaxy are present, or if there is a family history of the disorder. After receiving test results, seek genetic counseling for interpretation and next steps.

Limitations

  • May not detect all types of mutations, such as large deletions or duplications
  • Results require interpretation by a genetic specialist
  • Does not rule out other genetic causes of heterotaxy

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Potential psychological impact from test results
  • No significant physical risks associated with genetic testing

Interfering Factors

  • Sample contamination
  • Degraded DNA quality
  • Incorrect sample collection or storage

Compare With Similar Tests

TestBCL9L Gene Heterotaxy, visceral, BCL9L related NGS Genetic TestWhole Exome SequencingChromosomal MicroarrayTargeted Gene Panel for Heterotaxy
ComparisonBCL9L Gene Heterotaxy, visceral, BCL9L related NGS Genetic Test

Frequently Asked Questions

What is BCL9L Gene Heterotaxy?
BCL9L Gene Heterotaxy is a rare genetic disorder caused by mutations in the BCL9L gene, leading to abnormal arrangement of internal organs in the chest and abdomen.
What are the symptoms of BCL9L Gene Heterotaxy?
Symptoms include abnormal organ arrangement, difficulty breathing, heart defects, jaundice, delayed growth, and recurrent infections.
How is BCL9L Gene Heterotaxy diagnosed?
Diagnosis involves physical examination, imaging tests like CT scan and MRI, and genetic testing such as NGS to identify BCL9L gene mutations.
What is the cost of the BCL9L Related NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
What sample is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required. The sample can be collected at ambient room temperature.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
What does a positive test result mean?
A positive result indicates a mutation in the BCL9L gene, confirming a genetic cause for heterotaxy. Genetic counseling is recommended.
Can this test detect all cases of heterotaxy?
This test specifically targets BCL9L gene mutations. Other genetic or non-genetic causes may require additional testing.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is included to draw a pedigree chart and discuss test implications.
Who should consider this test?
The test is recommended for individuals, especially children, with symptoms of heterotaxy or a family history of the disorder.
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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