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CRELD1 Gene Atrioventricular septal defect, partial with heterotaxy syndrome NGS Genetic Test

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CRELD1 Gene Atrioventricular septal defect, partial with heterotaxy syndrome NGS Genetic Test

Short Name: CRELD1 AVSD Heterotaxy NGS Test

Also known as: AVSD with heterotaxy, CRELD1-related congenital heart defect, Partial AVSD with heterotaxy syndrome

CRELD1 Gene Atrioventricular septal defect, partial with heterotaxy syndrome 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

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

This test aims to confirm a diagnosis of CRELD1 gene-related atrioventricular septal defect with heterotaxy syndrome by detecting pathogenic mutations. It helps in understanding the genetic basis of the condition, assessing recurrence risks for family members, and guiding personalized medical care, including surgical planning and long-term monitoring.

Test Code
5659
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

No specific preparation required. Ensure patient or guardian provides informed consent and clinical history.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist. For FTA card, a single drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample at ambient room temperature and transport to the lab promptly.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to understand the test implications.
2
During the Test:Blood sample collection is a quick procedure with minimal discomfort.
3
After the Test:Monitor the puncture site for any signs of infection. Await results and schedule a follow-up for interpretation.

About This Test

Who Should Get This Test

This test aims to confirm a diagnosis of CRELD1 gene-related atrioventricular septal defect with heterotaxy syndrome by detecting pathogenic mutations. It helps in understanding the genetic basis of the condition, assessing recurrence risks for family members, and guiding personalized medical care, including surgical planning and long-term monitoring.

How to Prepare

  • Use sterile equipment for blood draw
  • Label sample correctly with patient details
  • Avoid hemolysis by gentle handling
  • For FTA card, ensure blood saturates the designated area

Doctor's Notes

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

"Early genetic testing for CRELD1 mutations is crucial in pediatric patients with congenital heart defects and suspected heterotaxy, as it guides surgical planning and long-term care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling or missing consent

Understanding Your Results

Results indicate the presence or absence of mutations in the CRELD1 gene. A positive result confirms genetic predisposition to atrioventricular septal defect with heterotaxy syndrome, while a negative result may require further testing if clinical suspicion remains high.
📊

Pathogenic variant detected

Confirms diagnosis; genetic counseling and specialist referral recommended for management planning.

📊

No pathogenic variant detected

Reduces likelihood of CRELD1-related disorder; consider other genetic or environmental factors.

📊

Variant of Uncertain Significance (VUS)

Requires further family studies or functional analysis; clinical correlation advised.

⚠️ When to Consult a Doctor:

Consult a geneticist or cardiologist if test results are positive, if there is a family history of congenital heart defects, or if symptoms persist despite negative results.

Limitations

  • ⚠May not detect all genetic variants or mutations outside the CRELD1 gene
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not replace clinical evaluation or imaging studies

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Degraded DNA due to improper storage
  • ●Presence of inhibitors in blood sample

Frequently Asked Questions

What is the CRELD1 Gene Atrioventricular Septal Defect with Heterotaxy Syndrome NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the CRELD1 gene, which are associated with a rare heart defect and abnormal organ arrangement.
Who should consider this test?
Pediatric patients with symptoms like heart murmur, poor growth, or suspected heterotaxy, and individuals with a family history of congenital heart defects.
What is the cost of the test?
The test costs INR 20000, which includes home sample collection across India.
How is the sample collected?
A blood sample is collected via venipuncture, or a drop of blood can be placed on an FTA card. Home collection is available.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample receipt.
What do the results mean?
Results indicate if pathogenic mutations in the CRELD1 gene are present, confirming the genetic condition. A genetic counselor will explain the implications.
Is the test accurate?
Yes, NGS technology provides high accuracy for detecting genetic variants, but results should be interpreted in clinical context.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising or infection, which are rare.
Can this test be used for prenatal diagnosis?
It is primarily for postnatal diagnosis; consult a genetic counselor for prenatal testing options.
What if the test result is negative but symptoms persist?
A negative result does not rule out other causes; further clinical evaluation and additional tests may be needed.
Is genetic counseling provided with the test?
Yes, DNA Labs India offers genetic counseling support to help understand results and next steps.
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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