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CAVIN1 Gene Lipodystrophy generalized type 4 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CAVIN1 Gene Lipodystrophy generalized type 4 NGS Genetic Test

Short Name: CAVIN1 Lipodystrophy Type 4 NGS Test

Also known as: Congenital generalized lipodystrophy type 4, CAVIN1-related lipodystrophy

CAVIN1 Gene Lipodystrophy generalized type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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

🩺 Medically Reviewed By

Overview

To identify mutations in the CAVIN1 gene for diagnosis of Lipodystrophy Generalized Type 4, aiding in clinical management and genetic counseling.

Test Code
2128
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 Technology
Step 1

Sample Collection

No special preparation needed, but genetic counseling is recommended prior to testing.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Sample collected via venipuncture or using an FTA card for blood drop.

Step 3

Report Delivery

Sample is sent to the laboratory for analysis; maintain proper documentation.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended; no fasting required.
2
During the Test:Blood sample drawn or FTA card used; minimal discomfort.
3
After the Test:Sample analyzed in lab; results available in 3 to 4 weeks.

About This Test

Who Should Get This Test

To identify mutations in the CAVIN1 gene for diagnosis of Lipodystrophy Generalized Type 4, aiding in clinical management and genetic counseling.

How to Prepare

  • Use sterile collection kit provided
  • Label sample correctly with patient details
  • Follow chain of custody procedures
  • Ensure sample integrity during transport

Doctor's Notes

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

"This test is crucial for confirming diagnosis in patients with suspected generalized lipodystrophy, guiding treatment plans and genetic counseling."

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 FTA card collection

Sample Stability

Blood: Stable at 2-8°C for up to 7 days
FTA card: Room temperature stable for extended periods
Sample Rejection Criteria:
  • Contaminated or improperly stored sample
  • Insufficient sample volume
  • Incorrect labeling or missing information

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CAVIN1 gene, which are associated with Lipodystrophy Generalized Type 4.
Positive result: Pathogenic mutation detected; confirms diagnosis, recommend clinical management and genetic counseling.
Negative result: No pathogenic mutation detected; does not fully rule out lipodystrophy, consider other genetic causes.
Variant of uncertain significance: Further testing and family studies may be needed.
Consult a genetic counselor for comprehensive interpretation and family planning advice.
⚠️ When to Consult a Doctor:

If symptoms of lipodystrophy are present (e.g., loss of body fat, insulin resistance), or if there is a family history of the disorder, consult a healthcare professional for evaluation and potential genetic testing.

Limitations

  • May not detect all types of mutations (e.g., large deletions)
  • Requires genetic counseling for interpretation
  • Results should be correlated with clinical findings

Risks & Considerations

  • Minor bruising at blood draw site
  • Rare risk of infection
  • Potential anxiety from genetic results; counseling provided

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Technical errors in sequencing

Compare With Similar Tests

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ComparisonCAVIN1 Gene Lipodystrophy generalized type 4 NGS Genetic Test

Frequently Asked Questions

What is CAVIN1 Gene Lipodystrophy Generalized Type 4?
It is a rare genetic disorder caused by mutations in the CAVIN1 gene, leading to abnormal fat storage and metabolic issues.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze DNA from a blood sample, FTA card, or extracted DNA for mutations in the CAVIN1 gene.
What are the common symptoms of Lipodystrophy Generalized Type 4?
Symptoms include lack of body fat, muscle weakness, insulin resistance, high triglycerides, and enlarged liver or spleen.
Who should consider getting this genetic test?
Individuals with symptoms of generalized lipodystrophy, a family history of the condition, or unexplained metabolic abnormalities.
What is the cost of the CAVIN1 Gene Lipodystrophy Type 4 NGS Genetic Test?
The test costs INR 20000 in India, with free home sample collection available in numerous cities.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
How accurate is the NGS Genetic Test for diagnosing this condition?
The test is highly accurate and reliable for detecting mutations in the CAVIN1 gene, but results should be interpreted by a genetic specialist.
Can children undergo this genetic test?
Yes, the test can be performed on individuals of all ages, including children, with appropriate consent and counseling.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the CAVIN1 gene, confirming the diagnosis and guiding treatment and management plans.
Is genetic counseling required before or after the test?
Genetic counseling is recommended before testing to understand implications and after testing to interpret results and discuss next steps.
How do I prepare for the CAVIN1 Gene Lipodystrophy Type 4 NGS Genetic Test?
No special preparation is needed; however, providing clinical history and undergoing genetic counseling is advised for optimal care.
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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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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