Skip to main content
DNA Labs India

AASS Gene Hyperlysinemia type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

AASS Gene Hyperlysinemia type 1 NGS Genetic Test

Short Name: AASS Gene Test

Also known as: Hyperlysinemia Type 1 Genetic Test, AASS Gene Sequencing Test, Lysine Metabolism Disorder Test

AASS Gene Hyperlysinemia type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

The purpose of this test is to identify mutations in the AASS gene that cause Hyperlysinemia type 1, aiding in diagnosis, risk assessment, and management for patients and families.

Test Code
2093
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Obtain informed consent and clinical history. No fasting is required; ensure proper identification of the patient.

Method: Venipuncture

Step 2

Laboratory Analysis

Collect a blood sample via standard venipuncture into an EDTA tube following aseptic techniques.

Step 3

Report Delivery

Label the sample correctly, store at 2-8°C, and arrange for timely transport to the laboratory.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Pre-test genetic counseling to discuss implications and consent.
2
During the Test:Blood sample collection, DNA extraction, and NGS sequencing.
3
After the Test:Results reviewed by a geneticist, followed by post-test counseling.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the AASS gene that cause Hyperlysinemia type 1, aiding in diagnosis, risk assessment, and management for patients and families.

How to Prepare

  • Use an EDTA tube for blood collection
  • Avoid hemolysis by gentle mixing
  • Store sample at ambient room temperature until dispatch
  • Ensure sample is shipped with ice packs to maintain stability

Doctor's Notes

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

"This test is crucial for families with a history of metabolic disorders. Early diagnosis through genetic testing can guide management and counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Stable at 2-8°C for 48 hours
Ship with cold packs to prevent degradation
Sample Rejection Criteria:
  • Sample hemolyzed or clotted
  • Inadequate sample volume
  • Mislabeled or unlabeled sample
  • Improper container used

Understanding Your Results

Results are based on the detection of mutations in the AASS gene. Interpretation depends on variant pathogenicity and clinical correlation.
Positive: Pathogenic variant detected - confirms Hyperlysinemia type 1 diagnosis; recommend genetic counseling and management.
Negative: No pathogenic variant detected - does not completely rule out the condition; clinical correlation and further testing may be needed.
Variant of Unknown Significance (VUS) - may require family studies or additional testing for clarification.
⚠️ When to Consult a Doctor:

Consult a genetic specialist or metabolic disorder expert if positive results are obtained, symptoms persist despite negative results, or for family planning guidance.

Limitations

  • ⚠May not detect all possible mutations in the AASS gene
  • ⚠Variants of unknown significance (VUS) may be identified
  • ⚠Does not assess for other metabolic disorders

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, pain, or infection at site
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Hemolyzed or clotted blood samples may affect DNA quality
  • ●Improper sample storage or transport
  • ●Recent blood transfusion within 3 months

Compare With Similar Tests

TestAASS Gene Hyperlysinemia type 1 NGS Genetic Test
ComparisonAASS Gene Hyperlysinemia type 1 NGS Genetic Test

Frequently Asked Questions

What is Hyperlysinemia type 1?
Hyperlysinemia type 1 is a rare genetic disorder caused by mutations in the AASS gene, leading to lysine buildup and symptoms like intellectual disability and seizures.
How is Hyperlysinemia type 1 diagnosed?
It is diagnosed through genetic testing, such as the AASS Gene NGS test, which detects mutations in the AASS gene.
What does the AASS Gene test involve?
The test involves analyzing a blood sample using NGS technology to identify mutations in the AASS gene associated with Hyperlysinemia type 1.
Is fasting required for this test?
No, fasting is not required. The test can be performed at any time without dietary restrictions.
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 Hyperlysinemia type 1?
Symptoms include intellectual disability, developmental delay, seizures, behavioral problems, speech delays, and abnormal muscle tone.
Is this test available for home collection?
Yes, DNA Labs India offers free home sample collection across India for this test.
What is the cost of the test?
The test costs INR 20000, including home collection and genetic counseling.
Can this test detect all mutations?
While NGS is comprehensive, it may not detect all possible mutations in the AASS gene, and variants of unknown significance may be found.
What if the test result is positive?
A positive result confirms Hyperlysinemia type 1; genetic counseling is recommended to discuss management and family planning.
Is genetic counseling included?
Yes, genetic counseling is included to help interpret results and provide guidance.
How accurate is NGS for this test?
NGS is highly accurate for detecting genetic variants, but accuracy depends on sample quality and variant type; results should be correlated clinically.
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.

Related Tests

Amino Acids Qualitative Urine & Plasma Test

₹3,000

Galactose Quantitative Plasma Test

₹1,872

Galactosemia Panel 3 Test

₹4,563

Galactosemia Panel 1 Test

₹2,867

Canavan Disease Test

₹4,500

Galactose-1-Phosphate Quantitative Blood Test

₹1,989
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.