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TMPRSS15 Gene Enterokinase deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TMPRSS15 Gene Enterokinase deficiency NGS Genetic Test

Short Name: TMPRSS15 Gene Test

Also known as: Enterokinase Deficiency Syndrome, TMPRSS15-Related Disorder

TMPRSS15 Gene Enterokinase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, or FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the TMPRSS15 gene for diagnosis of enterokinase deficiency, enabling appropriate management and genetic counseling.

Test Code
4678
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected with enterokinase deficiency.

Method: Venipuncture for blood or home collection

Step 2

Laboratory Analysis

Sample collection via blood draw or FTA card, with home collection available.

Step 3

Report Delivery

Sample sent to laboratory for DNA extraction and NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Sample collection and processing in the laboratory.
3
After the Test:Report generation and consultation with healthcare provider.

About This Test

Who Should Get This Test

To identify mutations in the TMPRSS15 gene for diagnosis of enterokinase deficiency, enabling appropriate management and genetic counseling.

How to Prepare

  • Avoid contamination
  • Label sample correctly
  • Use provided container

Doctor's Notes

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

"Early genetic testing for enterokinase deficiency can lead to better management of digestive symptoms and informed family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood or home collection

Sample Stability

Blood sample stable for 48 hours at 2-8°C
FTA card stable at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect container

Understanding Your Results

Results indicate the presence or absence of mutations in the TMPRSS15 gene associated with enterokinase deficiency.
Positive for pathogenic mutation: Confirms diagnosis of enterokinase deficiency
Negative: No mutation detected, but clinical correlation needed
Variant of uncertain significance: Requires further testing and genetic counseling
⚠️ When to Consult a Doctor:

If symptoms persist, if there is a family history of genetic disorders, or for genetic counseling after test results.

Limitations

  • Test may not detect all mutations
  • Results require genetic counseling
  • Not a diagnostic tool for all digestive disorders

Risks & Considerations

  • Minimal risk from blood draw
  • Psychological impact of genetic results

Interfering Factors

  • Poor sample quality
  • Contamination during collection
  • Inadequate DNA quantity

Frequently Asked Questions

What is enterokinase deficiency?
Enterokinase deficiency is a rare genetic disorder affecting the digestive system, caused by mutations in the TMPRSS15 gene, leading to impaired activation of digestive enzymes.
What causes enterokinase deficiency?
It is caused by mutations in the TMPRSS15 gene, which codes for the enterokinase enzyme essential for protein digestion.
What are the symptoms of enterokinase deficiency?
Common symptoms include chronic diarrhea, failure to thrive, malabsorption, weight loss, and abdominal pain.
How is enterokinase deficiency diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS Genetic Test for the TMPRSS15 gene.
What is the TMPRSS15 gene?
The TMPRSS15 gene provides instructions for making the enterokinase enzyme, which activates other digestive enzymes in the small intestine.
What is the cost of the NGS Genetic Test for enterokinase deficiency?
The test costs INR 20000 at DNA Labs India, including sample collection, DNA extraction, sequencing, and analysis.
How long does it take to get results?
Results are typically available within 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 India.
What does the test include?
The test includes sample collection, DNA extraction, NGS sequencing, data analysis, and a clinical report with raw data files.
Who should get tested for enterokinase deficiency?
Individuals with symptoms like chronic diarrhea or failure to thrive, or those with a family history of the disorder, should consider testing.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand results, inheritance patterns, and implications.
How accurate is the NGS Genetic Test?
NGS technology provides high accuracy for detecting mutations in the TMPRSS15 gene, but results should be interpreted by a genetic specialist.
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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