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SARDH Gene Sarcosinemia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SARDH Gene Sarcosinemia NGS Genetic Test

Short Name: Sarcosinemia NGS Test

Also known as: Sarcosinemia DNA Test, SARDH Gene Mutation Analysis, Sarcosinemia Genetic Screening

SARDH Gene Sarcosinemia 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.

Next Generation Sequencing (NGS)All 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 detect pathogenic mutations in the SARDH gene responsible for sarcosinemia, enabling accurate diagnosis, personalized treatment planning, and informed genetic counseling.

Test Code
2242
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

A genetic counseling session is recommended to discuss family history and draw a pedigree chart of affected members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture under sterile conditions by a trained phlebotomist.

Step 3

Report Delivery

Sample is labeled, packaged, and transported to the laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor for pre-test counseling to discuss implications, family history, and test limitations.
2
During the Test:Next Generation Sequencing of the SARDH gene to identify variants associated with sarcosinemia.
3
After the Test:Post-test genetic counseling to explain results, discuss next steps, and provide support for affected individuals and families.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the SARDH gene responsible for sarcosinemia, enabling accurate diagnosis, personalized treatment planning, and informed genetic counseling.

How to Prepare

  • Ensure proper labeling of samples
  • Avoid hemolysis during blood draw
  • Use appropriate containers as specified

Doctor's Notes

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

"Early diagnosis of sarcosinemia through genetic testing is vital for managing symptoms, guiding treatment, and providing family counseling for at-risk individuals."

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 blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood: 7 days at 2-8°C
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate whether pathogenic mutations in the SARDH gene are detected, aiding in the diagnosis of sarcosinemia.
📊

Positive

Pathogenic mutation detected, consistent with sarcosinemia diagnosis. Genetic counseling and further clinical evaluation are recommended.

📊

Negative

No pathogenic mutation detected; sarcosinemia is less likely but not entirely ruled out if clinical suspicion remains. Consider other diagnostic tests.

⚠️ When to Consult a Doctor:

If genetic test results are positive or symptoms persist, consult a metabolic specialist, geneticist, or healthcare provider experienced in rare genetic disorders.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires interpretation by a genetic counselor
  • ⚠Does not rule out other metabolic disorders

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Psychological impact of genetic results
  • ●Possibility of false negative or positive results

Interfering Factors

  • ●Hemolyzed sample
  • ●Improper sample storage
  • ●Contamination

Compare With Similar Tests

TestSARDH Gene Sarcosinemia NGS Genetic TestUrine Sarcosine TestPlasma Amino Acid AnalysisSARDH Gene Sanger Sequencing
ComparisonSARDH Gene Sarcosinemia NGS Genetic Test

Frequently Asked Questions

What is sarcosinemia?
Sarcosinemia is a rare genetic disorder where the body cannot break down sarcosine, an amino acid, leading to buildup in blood and urine, causing various symptoms.
What causes sarcosinemia?
Sarcosinemia is caused by mutations in the SARDH gene, which provides instructions for making the enzyme sarcosine dehydrogenase necessary for metabolizing sarcosine.
What are the symptoms of sarcosinemia?
Symptoms may include developmental delays, intellectual disability, behavioral problems, speech difficulties, seizures, muscle weakness, and enlarged liver or spleen.
How is sarcosinemia diagnosed?
Diagnosis involves blood and urine tests to measure sarcosine levels, followed by genetic testing to identify mutations in the SARDH gene.
What is the SARDH Gene Sarcosinemia NGS Genetic Test?
It is a Next Generation Sequencing test that analyzes the SARDH gene to detect mutations associated with sarcosinemia for accurate diagnosis.
How much does the test cost?
The test costs INR 20000 at DNA Labs India, which includes the test and genetic counseling.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates pathogenic mutations in the SARDH gene, suggesting sarcosinemia. Genetic counseling is recommended for next steps.
What does a negative test result mean?
A negative result means no pathogenic mutations were detected, but clinical correlation is advised if symptoms persist.
Are there any risks associated with the test?
Risks are minimal and may include minor bruising at the blood draw site or psychological impact from results.
Who should consider getting this test?
Individuals with symptoms like developmental delays, seizures, or family history of sarcosinemia should consider this test after consulting a healthcare provider.
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.

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.

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