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SERHL2 Gene Serine hydrolase deficiency, SERHL2 related NGS Genetic Test

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SERHL2 Gene Serine hydrolase deficiency, SERHL2 related NGS Genetic Test

Short Name: SERHL2 Genetic Test

Also known as: SERHL2 Deficiency, Serine Hydrolase Deficiency

SERHL2 Gene Serine hydrolase deficiency, SERHL2 related 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 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 SERHL2 gene for accurate diagnosis of SERHL2 Gene Serine Hydrolase Deficiency, aiding in clinical management and genetic counseling.

Test Code
2243
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 Technology
Step 1

Sample Collection

Clinical history of patient and a genetic counseling session to draw a pedigree chart of family members affected with serine hydrolase deficiency related disease.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collection via venipuncture.

Step 3

Report Delivery

Sample is processed for NGS analysis; results are available in 3 to 4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor and provide clinical history. No fasting required.
2
During the Test:Blood sample collection, which is quick and minimally invasive.
3
After the Test:Wait for results in 3 to 4 weeks; discuss with a healthcare professional for management.

About This Test

Who Should Get This Test

To detect mutations in the SERHL2 gene for accurate diagnosis of SERHL2 Gene Serine Hydrolase Deficiency, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification of patient.
  • Use appropriate blood collection tubes.
  • Store sample at ambient room temperature if not immediate processing.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing is crucial for diagnosing SERHL2 Gene Serine Hydrolase Deficiency, especially in individuals with symptoms or family history. Consult a healthcare professional for personalized management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample
  • Improper labeling or container

Understanding Your Results

Interpretation of SERHL2 genetic test results should be done by a qualified healthcare professional in the context of clinical findings.
📊

Positive: Pathogenic variant detected

Confirms diagnosis of SERHL2 Gene Serine Hydrolase Deficiency. Management and genetic counseling recommended.

📊

Negative: No pathogenic variant detected

SERHL2-related deficiency unlikely, but clinical correlation and other tests may be needed.

📊

Variant of uncertain significance

Further evaluation or family studies may be required for clarity.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms like difficulty digesting proteins, abdominal pain, diarrhea, or developmental delays are present, or if there is a family history of SERHL2 deficiency.

Limitations

  • Test only detects mutations in SERHL2 gene; other genetic causes may not be identified.

Risks & Considerations

  • Minimal risks from blood draw, such as bruising or infection at the puncture site.

Frequently Asked Questions

What is SERHL2 Gene Serine Hydrolase Deficiency?
It is a rare genetic disorder caused by mutations in the SERHL2 gene, leading to a deficiency in the serine hydrolase enzyme, which affects protein breakdown.
What are the symptoms of SERHL2 deficiency?
Symptoms include difficulty digesting protein-rich foods, abdominal pain, bloating, diarrhea, weight loss, and developmental delays in children.
How is SERHL2 deficiency diagnosed?
Diagnosis is confirmed through genetic testing, specifically NGS Genetic Test to detect mutations in the SERHL2 gene.
What does the NGS Genetic Test involve?
It involves analyzing a blood sample or extracted DNA using Next-Generation Sequencing technology to identify mutations in the SERHL2 gene.
Is the test invasive?
No, the test is non-invasive and requires only a small blood sample or one drop on an FTA card.
What is the cost of the SERHL2 Genetic Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do I do if the test is positive?
A positive result confirms SERHL2 deficiency; consult a healthcare professional for management and genetic counseling.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings in various cities across India.
What files are provided with the report?
DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical test report for transparency.
Is genetic counseling recommended before testing?
Yes, a genetic counseling session is recommended to draw a pedigree chart and understand the test implications.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising or minor discomfort.
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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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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