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DNA Labs India

LCAT Gene LCAT DEFICIENCY NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

LCAT Gene LCAT DEFICIENCY NGS Genetic Test

Short Name: LCAT Deficiency NGS Test

Also known as: Fish-eye disease, LCAT Deficiency Genetic Test

LCAT Gene LCAT DEFICIENCY NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-generation sequencing) 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.

Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect mutations in the LCAT gene for accurate diagnosis and management of LCAT deficiency.

Test Code
2124
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 (Next-generation sequencing)
Step 1

Sample Collection

A genetic counseling session is recommended to discuss the test and family history.

Method: Venipuncture for blood, or FTA card collection

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture or using an FTA card with aseptic technique.

Step 3

Report Delivery

The sample is transported to the laboratory under appropriate conditions for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are required prior to testing.
2
During the Test:The sample undergoes NGS analysis to identify mutations in the LCAT gene.
3
After the Test:Results are compiled into a detailed report and discussed with the patient during follow-up.

About This Test

Who Should Get This Test

To detect mutations in the LCAT gene for accurate diagnosis and management of LCAT deficiency.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly with patient details

Doctor's Notes

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

"Early genetic testing for LCAT deficiency aids in symptom management and informed family planning decisions."

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 for blood, or FTA card collection

Sample Stability

Blood samples: Store at 2-8°C, stable for 24 hours
FTA cards: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the LCAT gene, guiding diagnosis and management.
📊

No pathogenic mutations detected in the LCAT gene. LCAT deficiency is unlikely, but clinical correlation is advised.

📊

Mutations detected in the LCAT gene. Consult a genetic counselor for diagnosis confirmation and management planning.

⚠️ When to Consult a Doctor:

If test results are positive or if symptoms of LCAT deficiency persist, consult a geneticist or metabolic specialist for further evaluation.

Limitations

  • May not detect all mutation types
  • Results require interpretation by a qualified geneticist

Risks & Considerations

  • Minor discomfort from blood draw
  • Potential psychological impact of genetic results, addressable with counseling

Interfering Factors

  • Sample contamination
  • Improper sample storage

Frequently Asked Questions

What is LCAT deficiency?
LCAT deficiency is a rare genetic disorder caused by mutations in the LCAT gene, leading to impaired cholesterol metabolism and reduced HDL levels.
What are the symptoms of LCAT deficiency?
Symptoms include low HDL cholesterol, high LDL cholesterol, corneal opacities, renal failure, anemia, proteinuria, and enlarged liver or spleen.
How is LCAT deficiency diagnosed?
Diagnosis involves blood tests, urine tests, and genetic testing to detect mutations in the LCAT gene, with NGS being a key method.
What is the cost of the LCAT Gene NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, inclusive of home sample collection services.
What does NGS stand for in genetic testing?
NGS stands for Next-generation sequencing, a technology that sequences DNA accurately to identify genetic mutations.
How accurate is the NGS Genetic Test for LCAT deficiency?
NGS is highly accurate for detecting mutations, but results should be interpreted by a qualified geneticist for clinical relevance.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
Can this test be performed on children?
Yes, the test can be performed on individuals of all ages, but genetic counseling is recommended for minors.
What should I do if the test results are positive?
Consult a genetic counselor or healthcare professional to discuss management options, family planning, and potential treatments.
Is genetic counseling provided with the test?
Genetic counseling is recommended before and after the test to understand the implications and guide decision-making.
Are there any risks associated with genetic testing?
The test itself has minimal risks, but results may have emotional or psychological impacts, which can be addressed with professional counseling.
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 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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