Test Price
2,800 AED✅ Home Collection Available
CTSC Gene Haim-Munk Syndrome (Papillon-Lefèvre Spectrum) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary & Clinical Trust Manifesto
Executive Summary: Advanced genetic screening for the CTSC gene utilizing Next Generation Sequencing (NGS) technology, accredited under the highest ISO quality standards and clinical pathology guidelines. This high-sensitivity assay provides definitive differential diagnosis between Haim-Munk syndrome and Papillon-Lefèvre syndrome, enabling the treating physician to formulate a precise therapeutic plan for the complex cutaneous, skeletal, and immunological manifestations.
- ✓ 99.9% Diagnostic Sensitivity Guarantee: Liquid-capture NGS with 350x mean read depth identifies single nucleotide variants (SNVs), indels, and copy number variations (CNVs) across all coding exons of CTSC, processed in our ISO 9001:2015 certified facility.
- ✓ Premium Logistics for the UAE: Our VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection deploys DHA-licensed mobile phlebotomists from 8 AM to 11 PM. All specimens (Blood, Extracted DNA, or FTA Card) are transported in ISO certified cold-chain containers ensuring pre-analytical integrity.
- ✓ Post-Test Clinical Stewardship: A mandatory telephonic guidance session is included with every test, where our molecular pathologists interpret results for clinical correlation, bridging the gap between raw genetic data and actionable medical decisions.
- ✓ Insurance Navigation: Send your Emirates ID and insurance card via WhatsApp at +971 54 548 8731 for immediate pre-approval and direct billing verification.
Sample Matrix
Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card
Turnaround Time
3 to 4 Weeks
Methodology
Next Generation Sequencing (NGS)
Pre-Test Information & Clinical Logistics
Completion of a detailed clinical history form is mandatory, documenting the specific dermatological, osteological, and immunological phenotype of the proband. A pre-test genetic counseling session is compulsory to construct a three-generation pedigree chart for family members potentially affected by CTSC gene variants. Important: Patients must disclose any current use of retinoids, immunosuppressants, or anti-inflammatory biologics, as these may confound clinical-pathological correlation of genotype-phenotype associations. The test can be performed on extracted DNA, whole blood, or a specialized FTA card, facilitating integration with international biobanking standards.
Test Overview & Methodology
The CTSC Genetic Test utilizes advanced NGS technology and is the gold standard for differentiating autosomal recessive palmoplantar keratoderma with severe periodontitis from phenocopies with overlapping presentations, enabling definitive pre-surgical risk stratification for bone loss and recurrent cutaneous infections in the UAE's diverse population. This assay identifies pathogenic mutations in the CTSC gene, providing a conclusive genetic diagnosis for Haim-Munk syndrome, essential for distinguishing between types of palmoplantar keratoderma associated with severe periodontitis, thus allowing for preventive and precise therapeutic interventions.
| Diagnostic Dimension | Our Test: High-Fidelity NGS | Closest Alternative: Targeted Genotyping |
|---|---|---|
| Precision & Scope | Comprehensive coverage of all 7 coding exons, exon-intron boundaries, and select deep intronic regions. Detects novel variants. | Limited to 2-3 founder pathogenic variants. Misses private/familial mutations prevalent in consanguineous UAE pedigrees. |
| Methodological Integrity | Massively parallel sequencing (Illumina NovaSeq X platform) with Sanger validation. Quantifies mosaicism and allelic imbalance. | PCR-RFLP or allele-specific amplification. Low dynamic range, high risk of allele dropout. |
| Clinical Turnaround | 3-4 Weeks — time required for full tertiary bioinformatic analysis in compliance with ACMG guidelines. | 5-7 Days technically, but often requires reflex to full sequencing upon negative result, leading to a cumulative 5-6 week diagnostic delay. |
Physician Insight & Safety Protocols
"In my specialist practice in medical genetics, the CTSC gene test represents a paradigm shift for families affected by severe palmoplantar keratoderma and aggressive periodontitis. It is critical to understand that Haim-Munk syndrome's systemic manifestations require multidisciplinary surveillance of the integumentary and skeletal systems. A negative result should prompt immediate investigation into phenocopy syndromes like Papillon-Lefèvre syndrome, which demands equally thorough therapeutic vigilance. Genetic confirmation guides retinoid therapy decisions and dental prophylaxis planning to prevent irreversible alveolar bone loss."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Medication Advisory:
Do not discontinue or adjust prescribed retinoids, systemic antibiotics, or immunosuppressive therapy without consulting your managing physician. Abrupt cessation of acitretin or isotretinoin can precipitate a severe palmoplantar flare and rapid periodontal destruction, significantly confounding genetic result interpretation.
Patient Safety & Exclusion Criteria
Emergency Red Flags: If the patient is experiencing an acute, systemic inflammatory flare (fever >38.5°C, widespread pustular transformation of keratoderma, or acute joint effusion), postpone elective genetic collection and seek immediate ER intervention. Home phlebotomy is strictly contraindicated in patients with a recent (within 3 months) allogeneic hematopoietic stem cell transplant, as donor leukocyte DNA will yield false-negative or indeterminate results. For minors, collection requires strict adherence to UAE genetic testing regulations and dual parental attestation of identity, as specified in Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. How does the CTSC genetic result directly alter my treatment plan for palmoplantar keratoderma and prevent tooth loss in my child?
Answer: A positive biallelic CTSC finding confirms the need for aggressive, early combined systemic retinoid therapy and rigorous dental prophylaxis to halt permanent alveolar bone degeneration before it occurs. This genetic diagnosis enables targeted management that prevents irreversible periodontal destruction.
2. How does the CTSC gene test confirm Haim-Munk syndrome with high accuracy, distinguishing it from similar skin conditions?
Answer: Next Generation Sequencing precisely isolates biallelic loss-of-function mutations in the cathepsin C gene, which is the definitive molecular evidence that differentiates Haim-Munk syndrome from clinically similar syndromes. The comprehensive coverage ensures detection of both common and rare variants.
3. What are the specific pre-counseling requirements before collecting a sample via the FTA card home service in Dubai?
Answer: A mandatory DHA-regulated genetic counseling session constructs a three-generation pedigree and documents informed consent according to UAE PDPL, ensuring you understand the autosomal recessive inheritance pattern and potential psychosocial impacts before the FTA card is processed. This session is scheduled within 48 hours of your test order.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection Framework
This genetic test operates in full compliance with 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. All genetic data is encrypted, access-restricted, and processed under strict confidentiality protocols. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds DHA Facility License Number 1143 and operates under ISO 9001:2015 certified quality management systems. All clinical decisions must be made in correlation with physical findings by a licensed physician.
Clinical & Logistical Metadata
| Test Name | CTSC Gene Haim-Munk Syndrome (Papillon-Lefèvre Spectrum) Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) |
| ICD-10-CM Code | Q82.8 |
| LOINC Code | 54257-1 |
| DHA Facility License & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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