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MMP21 Gene Heterotaxy, visceral type 7 NGS Genetic Test

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MMP21 Gene Heterotaxy, visceral type 7 NGS Genetic Test

Short Name: MMP21 Gene Heterotaxy Test

Also known as: Visceral Heterotaxy Type 7, MMP21-Related Heterotaxy Syndrome

MMP21 Gene Heterotaxy, visceral type 7 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 this test is to diagnose MMP21 Gene Heterotaxy, Visceral Type 7 by identifying mutations in the MMP21 gene through NGS technology, facilitating early intervention and genetic counseling.

Test Code
5764
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

Ensure patient or guardian provides informed consent. Collect clinical history and family pedigree as part of genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Draw blood using standard venipuncture techniques. For FTA card, apply one drop of blood and allow to dry.

Step 3

Report Delivery

Label samples correctly and transport at ambient room temperature. Avoid hemolysis or contamination.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and collect family history.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Sample analysis in the lab, followed by report generation and genetic counseling.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose MMP21 Gene Heterotaxy, Visceral Type 7 by identifying mutations in the MMP21 gene through NGS technology, facilitating early intervention and genetic counseling.

How to Prepare

  • Obtain informed consent
  • Use sterile equipment for blood draw
  • Apply pressure after venipuncture
  • Store samples as per guidelines

Doctor's Notes

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

"This test is crucial for early detection and management of heterotaxy syndrome, especially in pediatric patients with suspected congenital anomalies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or storage

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MMP21 gene. Positive results confirm diagnosis, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of MMP21 Gene Heterotaxy, Visceral Type 7. Recommend genetic counseling and clinical management.

📊

No pathogenic variant detected

Does not rule out other genetic causes. Consider additional testing if clinical suspicion remains.

📊

Variant of uncertain significance

Further evaluation and family studies may be needed. Consult with a genetic specialist.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of heterotaxy are present, such as heart defects, organ abnormalities, or developmental delays, or if there is a family history of the condition.

Limitations

  • May not detect all genetic variants or epigenetic factors
  • Requires genetic counseling for interpretation
  • Results should be correlated with clinical findings

Risks & Considerations

  • Minimal physical risks from blood draw
  • Emotional impact of genetic results
  • Privacy concerns regarding genetic data

Interfering Factors

  • Sample contamination
  • Degraded DNA quality
  • Recent blood transfusions

Compare With Similar Tests

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ComparisonMMP21 Gene Heterotaxy, visceral type 7 NGS Genetic Test

Frequently Asked Questions

What is MMP21 Gene Heterotaxy, Visceral Type 7?
It is a rare genetic disorder caused by mutations in the MMP21 gene, leading to abnormal positioning of internal organs and various health issues.
Who should consider this genetic test?
Individuals with symptoms of heterotaxy, such as heart defects or organ abnormalities, or those with a family history of the condition.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the MMP21 gene from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20,000, and home sample collection is available across India.
Is the test covered by insurance?
Yes, most major insurance plans cover this test. Contact your provider for specific details.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of MMP21 Gene Heterotaxy?
Symptoms include heart defects, liver/spleen abnormalities, digestive issues, abnormal organ positioning, and developmental delays.
Is genetic counseling included?
Yes, a genetic counseling session is included to discuss results and implications.
Can this test be done for children?
Yes, the test is suitable for pediatric patients, as indicated by the test type.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, but emotional impacts of results should be considered.
How do I book the test?
You can book online through DNA Labs India's website or contact their customer service for assistance.
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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