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SLC7A7 Gene LYSINURIC PROTEIN INTOLERANCE NGS Genetic Test

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SLC7A7 Gene LYSINURIC PROTEIN INTOLERANCE NGS Genetic Test

Short Name: SLC7A7 LPI NGS Test

Also known as: Lysinuric Protein Intolerance Genetic Test, SLC7A7 Mutation Analysis

SLC7A7 Gene LYSINURIC PROTEIN INTOLERANCE 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

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Lysinuric Protein Intolerance by identifying mutations in the SLC7A7 gene using NGS technology, aiding in early treatment and management of the disorder.

Test Code
5447
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. Provide clinical history and family pedigree if available.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or using an FTA card for a drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss the test, implications, and family history.
2
During the Test:The test involves a simple blood draw; no special procedures are needed.
3
After the Test:Wait for the report, which will be delivered in 3-4 weeks. Discuss results with your doctor.

About This Test

Who Should Get This Test

To diagnose Lysinuric Protein Intolerance by identifying mutations in the SLC7A7 gene using NGS technology, aiding in early treatment and management of the disorder.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Label the sample correctly with patient details
  • Transport sample to the lab within the specified stability period

Doctor's Notes

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

"Genetic testing for SLC7A7 mutations is essential for confirming Lysinuric Protein Intolerance and guiding treatment to prevent complications like renal and hepatic issues."

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 or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Room Temperature24 hours
Refrigerated7 days
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling or missing information

Understanding Your Results

Results from the SLC7A7 Gene NGS Genetic Test indicate the presence or absence of mutations associated with Lysinuric Protein Intolerance.
📊

Pathogenic variant detected

Confirms diagnosis of Lysinuric Protein Intolerance. Genetic counseling and treatment planning recommended.

📊

No pathogenic variant detected

Lysinuric Protein Intolerance unlikely, but clinical correlation is advised.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If you experience symptoms such as vomiting after protein intake, failure to thrive, or have a family history of LPI, consult a healthcare provider for genetic testing.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires interpretation by a genetic specialist
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Potential psychological impact of genetic results
  • ●Privacy and confidentiality concerns

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Incorrect sample collection or storage
  • ●Technical errors in sequencing

Frequently Asked Questions

What is Lysinuric Protein Intolerance?
Lysinuric Protein Intolerance is a rare genetic disorder that affects the body's ability to break down certain amino acids, leading to symptoms like vomiting, diarrhea, and failure to thrive.
What causes Lysinuric Protein Intolerance?
It is caused by mutations in the SLC7A7 gene, which impairs amino acid transport across cell membranes.
What are the symptoms of Lysinuric Protein Intolerance?
Common symptoms include vomiting, diarrhea, failure to thrive, delayed growth, weakness, fatigue, and increased susceptibility to infections.
How is Lysinuric Protein Intolerance diagnosed?
Diagnosis is confirmed through genetic testing, such as the SLC7A7 Gene NGS Genetic Test, which identifies mutations in the SLC7A7 gene.
What is the SLC7A7 Gene NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the SLC7A7 gene for mutations associated with Lysinuric Protein Intolerance.
How much does the test cost?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate whether pathogenic variants in the SLC7A7 gene are detected, confirming or ruling out Lysinuric Protein Intolerance.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand the implications and guide management.
Can the test be done for children?
Yes, the test can be performed on individuals of all ages, including children, especially if symptoms are present.
What are the treatment options for Lysinuric Protein Intolerance?
Treatment involves dietary management to limit protein intake, supplementation of amino acids, and monitoring for complications, guided by genetic diagnosis.
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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