Test Price
2,800 AED✅ Home Collection Available
CTSK Gene Pycnodysostosis NGS Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
UAE’s Most Trusted Genetic Diagnosis
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Laboratory Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance with a certified genetic counselor to interpret your results.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next‑generation sequencing (NGS) test analyzes the entire CTSK gene to diagnose pycnodysostosis, a rare osteochondrodysplasia causing bone fragility and short stature. High‑depth sequencing with Sanger validation ensures 99.9% diagnostic sensitivity.
| Feature | Our NGS Test | Closest Alternative (Skeletal Dysplasia Panel) |
|---|---|---|
| Diagnostic Precision | Single‑gene high‑depth sequencing (99.9% sensitivity) | Multi‑gene panel may miss rare CTSK variants |
| Methodology | Illumina® NGS with Sanger validation | Targeted NGS panel without individual gene validation |
| Turnaround Time | 14–21 Days | 4–6 weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics holding DHA license 9294403, I emphasize the need for careful interpretation of genetic results in the context of clinical and radiographic findings. This test provides definitive diagnosis for pycnodysostosis, but it should always be followed by comprehensive genetic counseling to discuss inheritance patterns and family screening. I strongly recommend a multidisciplinary approach involving geneticists, orthopedists, and radiologists for optimal patient care.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA 9294403Medication Advisory
Do not discontinue or adjust any prescribed medication without consulting your treating physician.
If you are currently taking anticoagulants or antiplatelet drugs, discuss the blood draw procedure with your doctor and our phlebotomist before scheduling.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Patients without a clinical history suggestive of pycnodysostosis; minors under 18 years without legal guardian consent in accordance with UAE Federal Law No. 2 of 2019 and the Child Rights Law (Federal Law No. 3 of 2016).
- Red Flags — Seek Emergency Care Immediately: Acute bone fracture, uncontrolled pain, severe headache or vision changes due to cranial bone thickening, or any sudden neurological symptoms. This genetic test is not an emergency diagnostic tool.
Patient FAQ & Clinical Guidance
1. What is the CTSK gene test and how does NGS improve accuracy?
This test uses next‑generation sequencing to read every coding base of the CTSK gene, detecting even rare variants with 99.9% confidence. Compared to traditional single‑strand conformation tests, NGS eliminates false negatives and provides a comprehensive mutational landscape.
2. How is the sample collected for UAE residents?
A certified phlebotomist visits your home between 8 AM and 11 PM for a hospital‑grade cold‑chain blood draw, or you may submit a Dried Blood Spot card. UAE residents must provide a valid Emirates ID and insurance card; minors require parental presence and consent as per Federal Law No. 2 of 2019.
3. What do my results mean and when can I receive genetic counseling?
A positive result confirms one or two pathogenic variants in CTSK, guiding definitive diagnosis and future clinical management. You will receive a telephone‑based post‑test counseling session within one week of the report to discuss inheritance patterns, carrier screening for relatives, and prenatal options if relevant.
UAE Regulatory & Data Privacy Adherence
Compliance & Accreditation Framework
All clinical operations strictly adhere to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Laboratory certified ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) with DHA licensing standard.
Patient safety and clinical validity are governed under Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | CTSK Gene Pycnodysostosis NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 14–21 Days (3–4 weeks) |
| Sample Type / Matrix | Whole Blood (2–5 mL EDTA), Extracted DNA, or Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger validation |
| ICD-10-CM Code | Q78.0 |
| LOINC Code | 95126-9 |
| DHA Facility License & Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians