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PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test

Short Name: PTPN23 Gene Test

Also known as: PTPN23 Mutation Test, Ciliopathy Genetic Test

PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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 Test🏠 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 pathogenic mutations in the PTPN23 gene for diagnosis and management of ciliogenesis related disorders, aiding in clinical decision-making and genetic counseling.

Test Code
2286
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, Next-Generation Sequencing
Step 1

Sample Collection

Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture or Finger prick for FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture into an EDTA tube or one drop of blood on an FTA card using finger prick. Ensure proper labeling and documentation.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. The sample is sent to the lab for analysis under ambient room temperature conditions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo genetic counseling. No special preparation or fasting is required.
2
During the Test:A blood sample is collected via venipuncture or FTA card. The process is quick and minimally invasive.
3
After the Test:Apply pressure to the puncture site. The sample is processed in the lab, and results are delivered within 3 to 4 weeks.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the PTPN23 gene for diagnosis and management of ciliogenesis related disorders, aiding in clinical decision-making and genetic counseling.

How to Prepare

  • No fasting required
  • Bring referral form and clinical history
  • Ensure sample is properly labeled with patient details
  • Store sample at ambient room temperature

Doctor's Notes

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

"Early genetic testing for PTPN23 mutations can aid in timely management of ciliogenesis disorders, improving patient outcomes through personalized care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per lab requirements
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger prick for FTA card

Sample Stability

Blood sample: Stable at room temperature for up to 48 hours
FTA card: Stable for several days at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect sample type or labeling errors

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PTPN23 gene, which are associated with ciliogenesis disorders.
Positive Result: Pathogenic mutation detected, suggesting PTPN23 gene disorder; consult a geneticist for further management.
Negative Result: No pathogenic variants found; clinical correlation advised if symptoms persist.
Variant of Uncertain Significance (VUS): Further testing or family studies may be recommended.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or relevant specialist immediately after receiving results for appropriate diagnosis, management, and genetic counseling.

Limitations

  • ⚠May not detect all types of genetic variants
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results should be correlated with clinical presentation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or discomfort
  • ●Psychological impact from test results
  • ●Possible incidental findings requiring further evaluation

Interfering Factors

  • ●Sample contamination
  • ●Improper storage or handling
  • ●Insufficient DNA quality or quantity

Frequently Asked Questions

What is PTPN23 Gene Ciliogenesis Related Disorder?
It is a rare genetic disorder caused by mutations in the PTPN23 gene, affecting cilia function and leading to symptoms like respiratory issues, infertility, and organ abnormalities.
Who should consider this genetic test?
Individuals with symptoms such as chronic respiratory infections, sinusitis, infertility, or a family history of ciliopathy should consider this test.
How is the test performed?
The test uses next-generation sequencing (NGS) technology to analyze the PTPN23 gene from a blood or DNA sample.
What is the cost of the test?
The cost is INR 20000, which includes home collection and genetic counseling at DNA Labs India.
Is home sample collection available?
Yes, free home collection is available in numerous cities across India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Are there any risks involved?
Risks are minimal, mainly related to blood draw, but psychological impact from results should be considered.
How should I prepare for the test?
No fasting is required. Provide clinical history and attend a genetic counseling session before testing.
What do the results mean?
Results indicate if pathogenic mutations are present in the PTPN23 gene. Positive results require consultation with a geneticist.
Can insurance cover this test?
Coverage depends on your insurance policy. Check with providers like PMJAY, CGHS, or private insurers for details.
What is the accuracy of the test?
NGS technology offers high accuracy in detecting genetic variants, but results should be interpreted by a healthcare professional.
Where can I get this test done?
The test is available at DNA Labs India and other DNA labs across India. Visit their website or call for more information.
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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