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CTSK Gene Pycnodysostosis NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CTSK Gene Pycnodysostosis NGS Genetic Test

Short Name: CTSK Gene Test

Also known as: Pycnodysostosis Genetic Test, CTSK Mutation Analysis, Cathepsin K Gene Test

CTSK Gene Pycnodysostosis 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.

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 diagnose Pycnodysostosis by detecting pathogenic mutations in the CTSK gene using Next-Generation Sequencing technology, enabling accurate clinical management and genetic counseling.

Test Code
5125
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick onto FTA card.

Step 3

Report Delivery

Apply pressure to the collection site; sample sent to lab for 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 laboratory analysis.
3
After the Test:Report generation and consultation for interpretation.

About This Test

Who Should Get This Test

To diagnose Pycnodysostosis by detecting pathogenic mutations in the CTSK gene using Next-Generation Sequencing technology, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Fast for 8-12 hours if specified, though not typically required
  • Ensure proper labeling of sample
  • Use sterile collection equipment

Doctor's Notes

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

"Genetic testing for CTSK gene mutations is essential for accurate diagnosis and family planning in Pycnodysostosis, helping to guide management and 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
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

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

Understanding Your Results

Results indicate the presence or absence of mutations in the CTSK gene associated with Pycnodysostosis.
Positive result: Pathogenic mutation detected, confirming diagnosis
Negative result: No mutation found, consider other differential diagnoses
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If symptoms of Pycnodysostosis are present, such as short stature or frequent fractures, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations or variants of uncertain significance
  • ⚠Requires genetic counseling for proper interpretation
  • ⚠Not a screening test for the general population

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Psychological impact of results
  • ●Potential insurance implications

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type or handling

Compare With Similar Tests

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ComparisonCTSK Gene Pycnodysostosis NGS Genetic Test

Frequently Asked Questions

What is Pycnodysostosis?
Pycnodysostosis is a rare genetic disorder characterized by abnormal bone development, short stature, and dental problems, caused by mutations in the CTSK gene.
What causes Pycnodysostosis?
It is caused by mutations in the CTSK gene, which leads to a deficiency in the enzyme cathepsin K, affecting bone remodeling.
What are the symptoms of Pycnodysostosis?
Symptoms include short stature, dental issues, increased fracture risk, delayed fontanelle closure, spinal curvature, and small nails.
How is Pycnodysostosis diagnosed?
Diagnosis involves physical examination, imaging tests, and genetic testing to identify mutations in the CTSK gene.
What is the CTSK Gene Pycnodysostosis NGS Genetic Test?
It is a Next-Generation Sequencing test that detects mutations in the CTSK gene to confirm Pycnodysostosis diagnosis.
How much does the test cost?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test painful?
The test involves a blood draw, which may cause minor discomfort, but it is generally safe.
Can the test be done on children?
Yes, the test can be performed on individuals of all ages, including infants and children.
What if the test result is positive?
A positive result confirms Pycnodysostosis, and genetic counseling is recommended for management and family planning.
Is genetic counseling provided?
Yes, a genetic counseling session is included to discuss results and implications.
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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