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CTPS1 Gene Immunodeficiency type 24 NGS Genetic Test

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CTPS1 Gene Immunodeficiency type 24 NGS Genetic Test

Short Name: CTPS1 Immunodeficiency Type 24 NGS Test

Also known as: CTPS1 deficiency, Immunodeficiency Type 24

CTPS1 Gene Immunodeficiency type 24 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.

NGS Genetic TestAll 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 identify mutations in the CTPS1 gene responsible for Immunodeficiency Type 24, aiding in diagnosis, treatment planning, and genetic counseling.

Test Code
5014
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

Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with CTPS1 gene immunodeficiency type 24.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or saliva sample using sterile techniques.

Step 3

Report Delivery

Sample labeled and transported to laboratory at ambient room temperature for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, informed consent, and collection of clinical history.
2
During the Test:Sample collection (blood or saliva) and processing for NGS analysis.
3
After the Test:Report generation, genetic counseling to interpret results, and discussion of management options.

About This Test

Who Should Get This Test

To identify mutations in the CTPS1 gene responsible for Immunodeficiency Type 24, aiding in diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Ensure proper sample labeling with patient details
  • Use sterile collection tubes
  • Transport sample at ambient temperature
  • Avoid hemolysis in blood samples

Doctor's Notes

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

"This NGS test is essential for identifying CTPS1 mutations causing immunodeficiency, enabling targeted management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or as required
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improperly labeled sample
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CTPS1 gene, which can confirm or rule out CTPS1 gene immunodeficiency type 24.
📊

No pathogenic variants detected

Normal result, no CTPS1-related immunodeficiency detected based on current knowledge.

📊

Pathogenic variant detected

Confirms diagnosis of CTPS1 gene immunodeficiency type 24; genetic counseling and management recommended.

⚠️ When to Consult a Doctor:

If symptoms of immunodeficiency such as recurrent infections are present, or if there is a family history of CTPS1 gene immunodeficiency type 24, consult a healthcare professional for genetic testing and counseling.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Variants of uncertain significance may be identified
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Psychological impact of results
  • ●Potential for incidental findings unrelated to CTPS1
  • ●Minimal physical risk from sample collection

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Technical errors in sequencing

Compare With Similar Tests

TestCTPS1 Gene Immunodeficiency type 24 NGS Genetic TestWhole Exome SequencingTargeted Gene Panel for ImmunodeficiencySanger SequencingChromosomal Microarray
ComparisonCTPS1 Gene Immunodeficiency type 24 NGS Genetic Test

Frequently Asked Questions

What is CTPS1 Gene Immunodeficiency Type 24?
It is a rare genetic disorder caused by mutations in the CTPS1 gene, leading to impaired immune system function due to defective enzyme activity essential for DNA and RNA synthesis.
What are the common symptoms of this condition?
Symptoms include recurrent infections, low white blood cell counts, low immunoglobulins, failure to thrive, growth delays, and autoimmune disorders.
How is CTPS1 Gene Immunodeficiency Type 24 diagnosed?
Diagnosis is confirmed through genetic testing, specifically next-generation sequencing (NGS) to identify mutations in the CTPS1 gene.
What is the cost of the NGS Genetic Test for this condition in India?
The cost is approximately INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of pathogenic mutations in the CTPS1 gene, confirming the diagnosis of CTPS1 gene immunodeficiency type 24.
Can this condition be treated?
While there is no cure, management includes treating infections, immunoglobulin replacement therapy, and genetic counseling for family planning.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is included to draw a pedigree chart and discuss test implications.
Who should consider taking this test?
Individuals with symptoms of immunodeficiency, recurrent infections, or a family history of CTPS1 gene immunodeficiency type 24.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS, but check with your insurer.
How accurate is the NGS Genetic Test for this condition?
NGS is highly accurate for detecting mutations in the CTPS1 gene, but limitations include potential variants of uncertain significance.
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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