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SLC25A15 Gene Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome NGS Genetic Test

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SLC25A15 Gene Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome NGS Genetic Test

Short Name: SLC25A15 HHH Syndrome NGS Test

Also known as: HHH Syndrome, Ornithine Translocase Deficiency

SLC25A15 Gene Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome 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 Reports are typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll ages, typically diagnosed in infancy or childhood🏠 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 SLC25A15 gene to confirm a diagnosis of HHH syndrome, guide treatment decisions, and provide information for family planning and genetic counseling.

Test Code
2096
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No specific preparation required. Ensure genetic counseling session is scheduled for pedigree analysis.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein or via fingerstick onto an FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Keep the sample at ambient room temperature for stability.

Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss family history and implications.
2
During the Test:Sample collection via blood draw or fingerstick, followed by NGS analysis in the lab.
3
After the Test:Receive reports in 3-4 weeks and consult with a genetic specialist for interpretation and management.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the SLC25A15 gene to confirm a diagnosis of HHH syndrome, guide treatment decisions, and provide information for family planning and genetic counseling.

How to Prepare

  • Use sterile equipment
  • Label samples accurately
  • Store samples at room temperature
  • Transport to lab within 24 hours

Doctor's Notes

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

"Early genetic testing for HHH syndrome is vital for timely intervention and management, especially in families with a history of metabolic disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Stable at room temperature for 24 hours
Avoid extreme temperatures
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled containers

Understanding Your Results

Results indicate the presence or absence of mutations in the SLC25A15 gene. Positive results confirm HHH syndrome, while negative results may require further testing if clinical suspicion remains.
Pathogenic variant detected: Diagnosis of HHH syndrome likely
Variant of uncertain significance: May need additional family testing
No variant detected: Consider other diagnoses or repeat testing
⚠️ When to Consult a Doctor:

Consult a healthcare professional immediately if symptoms like seizures, elevated ammonia levels, or developmental delays are present, regardless of test results.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising
  • ●Psychological impact of genetic results
  • ●Possible incidental findings

Interfering Factors

  • ●Poor sample quality
  • ●DNA degradation during transport
  • ●Contamination during collection

Compare With Similar Tests

TestSLC25A15 Gene Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome NGS Genetic TestUrea Cycle Disorder PanelOrnithine Transcarbamylase (OTC) Gene TestWhole Exome Sequencing
ComparisonSLC25A15 Gene Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome NGS Genetic Test

Frequently Asked Questions

What is HHH syndrome?
HHH syndrome is a rare genetic disorder characterized by elevated ornithine, ammonia, and homocitrulline due to mutations in the SLC25A15 gene, affecting the urea cycle.
What causes HHH syndrome?
It is caused by mutations in the SLC25A15 gene, which disrupts the mitochondrial ornithine transporter 1 (ORNT1) protein, impairing ammonia removal.
What are the common symptoms of HHH syndrome?
Symptoms include seizures, intellectual disability, developmental delay, behavioral problems, liver issues, and hyperactivity.
How is HHH syndrome diagnosed?
Diagnosis involves clinical evaluation, biochemical tests for ornithine and ammonia levels, and genetic testing like this NGS test to confirm SLC25A15 mutations.
What does the SLC25A15 Gene NGS Test involve?
It uses Next-Generation Sequencing to analyze the SLC25A15 gene for mutations from a blood or DNA sample.
Is genetic testing necessary if biochemical tests are abnormal?
Yes, genetic testing confirms the diagnosis and helps identify specific mutations for family counseling.
What is the cost of this test?
The test costs INR 20000, with home sample collection available across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
Who should consider this test?
Individuals with symptoms of HHH syndrome, family history of the disorder, or abnormal biochemical test results should consider this test.
What happens after a positive diagnosis?
Management includes dietary restrictions, medications to lower ammonia, and regular monitoring by a metabolic specialist.
Are there any risks associated with the test?
The test itself has minimal risks, such as discomfort from blood draw, but genetic results may have psychological implications, hence genetic counseling is recommended.
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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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.

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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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