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USF1 Gene Hyperlipidemia, familial combined, susceptibility to NGS Genetic Test

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USF1 Gene Hyperlipidemia, familial combined, susceptibility to NGS Genetic Test

Short Name: USF1 Gene FCH Test

Also known as: FCH Genetic Test, USF1 Mutation Analysis, Familial Combined Hyperlipidemia Susceptibility Test, NGS Panel for Hyperlipidemia

USF1 Gene Hyperlipidemia, familial combined, susceptibility to 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 TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the USF1 gene and other genes associated with familial combined hyperlipidemia (FCH) to assess genetic susceptibility, guide diagnosis, and inform personalized management plans for reducing cardiovascular risk.

Test Code
2089
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
Yes (8 hours)
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Ensure patient has fasted for 8 hours if required. Review clinical history and obtain informed consent. Provide genetic counseling session to explain test implications.

Method: Venipuncture or FTA Card finger-prick

Step 2

Laboratory Analysis

Collect blood sample via venipuncture using sterile techniques or apply finger-prick to FTA card. Label specimens accurately with patient details.

Step 3

Report Delivery

Transport samples at ambient room temperature to the laboratory promptly. Store extracted DNA or FTA cards as per guidelines to maintain stability.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test purpose, implications, and limitations. Ensure informed consent. Provide clinical history and family pedigree for accurate analysis.
2
During the Test:Sample collection performed by trained phlebotomist or via home collection. NGS technology is used in the laboratory for comprehensive gene analysis.
3
After the Test:Results are delivered within 3-4 weeks. Follow-up genetic counseling is recommended to interpret findings and plan next steps for management or family screening.

About This Test

Who Should Get This Test

To identify mutations in the USF1 gene and other genes associated with familial combined hyperlipidemia (FCH) to assess genetic susceptibility, guide diagnosis, and inform personalized management plans for reducing cardiovascular risk.

How to Prepare

  • Patient should fast for 8 hours before blood draw to ensure accurate results.
  • Use a sterile EDTA tube for blood collection or a dedicated FTA card for finger-prick samples.
  • Ensure proper labeling of all samples with patient name, ID, and date of collection.
  • Avoid hemolysis by handling samples gently and storing at appropriate temperatures.
  • Provide genetic counseling before and after test to discuss implications and next steps.

Doctor's Notes

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

"Genetic testing for familial combined hyperlipidemia can help identify at-risk individuals early, enabling lifestyle changes or treatments to reduce cardiovascular risk."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or FTA Card finger-prick

Sample Stability

Blood samples stable for 48 hours at room temperature (15-25°C)
Extracted DNA stable for up to 1 year at -20°C
FTA card samples stable for several years at room temperature if stored dry
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume or poor DNA quality
  • Improperly labeled or contaminated specimens
  • Samples not collected according to protocol or stored incorrectly

Understanding Your Results

Results from the USF1 Gene NGS Genetic Test indicate the presence or absence of mutations associated with familial combined hyperlipidemia. Interpretation should be done in conjunction with clinical findings and family history.
Positive Result: Pathogenic variant detected in USF1 or related genes, indicating increased genetic susceptibility to FCH. Further clinical evaluation and management recommended.
Negative Result: No pathogenic variants detected, suggesting lower genetic risk. However, other non-genetic factors may contribute to hyperlipidemia.
Variant of Uncertain Significance (VUS): Genetic change identified with unclear clinical meaning. Requires further testing, family studies, and genetic counseling.
Incidental Findings: Additional variants unrelated to FCH may be detected; these should be reported and interpreted by a healthcare professional.
⚠️ When to Consult a Doctor:

Consult a healthcare provider if test results are positive, if there are symptoms of hyperlipidemia, or if family history suggests cardiovascular risks. Regular follow-up for monitoring and management is advised.

Limitations

  • May not detect all genetic variants or novel mutations
  • Results require interpretation by a qualified genetic counselor
  • Does not replace clinical diagnosis; must correlate with lipid profile and symptoms
  • Cannot predict disease onset or severity with absolute certainty

Risks & Considerations

  • Minimal risk from blood draw, such as bruising, soreness, or rare infection
  • No direct physical risks from genetic testing itself
  • Potential psychological impact from results; genetic counseling helps mitigate this

Interfering Factors

  • Poor sample quality or insufficient DNA yield
  • Contamination during sample collection or processing
  • Degraded DNA due to improper storage or handling
  • Recent blood transfusions or stem cell transplants

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ComparisonUSF1 Gene Hyperlipidemia, familial combined, susceptibility to NGS Genetic Test

Frequently Asked Questions

What is the USF1 gene test for familial combined hyperlipidemia?
The USF1 gene test uses next-generation sequencing (NGS) to detect mutations in the USF1 gene and other genes linked to familial combined hyperlipidemia (FCH), helping assess genetic susceptibility to this condition.
Why is this genetic test recommended?
It is recommended for individuals with a family history of FCH, elevated lipid levels, or symptoms like chest pain, to identify genetic risks and guide early management to prevent cardiovascular diseases.
How is the test performed?
A blood sample is collected via venipuncture or a finger-prick on an FTA card, then analyzed using NGS technology to identify genetic variants in lipid metabolism genes.
What are the risks of undergoing this test?
Risks are minimal, primarily involving blood draw side effects like bruising. Genetic testing itself poses no physical risks, but psychological support through genetic counseling is advised.
How long does it take to receive the results?
Results are typically available within 3 to 4 weeks, delivered via online portal, email, or WhatsApp for convenience.
What do the test results indicate?
Results show if pathogenic variants are detected in the USF1 gene, indicating increased risk of FCH. Negative results suggest lower genetic risk, but clinical correlation is essential.
Is the test covered by insurance in India?
Coverage varies; it is not commonly covered under government schemes like PMJAY or CGHS. Check with your private insurance provider for specific policy details.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection across many cities in India, making it convenient for patients to undergo testing without visiting a lab.
What is familial combined hyperlipidemia (FCH)?
FCH is a common genetic disorder characterized by high levels of cholesterol and triglycerides, often inherited in an autosomal dominant pattern, increasing the risk of heart disease.
How accurate is the USF1 gene test?
The test uses advanced NGS technology with high accuracy for detecting known genetic variants. However, it may not identify all mutations, and results should be interpreted by a genetic expert.
What should I do if the test result is positive?
A positive result means increased genetic risk for FCH. Consult your healthcare provider or genetic counselor for personalized management, which may include lifestyle changes, medication, or regular monitoring.
Are there alternatives to this genetic test?
Alternatives include other genetic panels for hyperlipidemia or non-genetic tests like lipid profiles. Your doctor can recommend the most appropriate test based on your clinical history and family background.
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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