Test Price
2,800 AED✅ Home Collection Available
PTDSS1 Gene Lenz-Majewski Hyperostotic Dwarfism Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary: The PTDSS1 gene next-generation sequencing (NGS) test delivers precise molecular diagnosis of Lenz-Majewski hyperostotic dwarfism syndrome with a diagnostic sensitivity exceeding 99.9%, conducted under ISO-accredited processing protocols at a DHA-licensed facility. The service includes temperature-controlled cold-chain home phlebotomy by certified professionals, post-test telephonic genetic counseling, and direct billing coordination. Contact +971 54 548 8731 via WhatsApp for insurance verification and appointment scheduling.
99.9% Diagnostic Sensitivity – ISO-accredited next-generation sequencing with full coding region coverage.
VIP Mobile Phlebotomy & Cold-Chain Home Collection – Certified nursing team available daily from 8 AM to 11 PM.
Post-Test Telephonic Genetic Counseling – results interpreted by a board-certified consultant medical geneticist.
Direct Billing & Insurance Verification – WhatsApp +971 54 548 8731
Test Overview & Methodology
The PTDSS1 gene NGS test detects pathogenic and likely pathogenic variants associated with Lenz-Majewski hyperostotic dwarfism, a rare autosomal dominant disorder characterized by craniofacial dysmorphism, progressive skeletal hyperostosis, and proportionate short stature. The assay targets the full coding region and intron-exon boundaries of the PTDSS1 gene using paired-end next-generation sequencing on an Illumina platform, achieving >99.9% sensitivity and specificity for single-nucleotide variants and small insertions or deletions. This enables definitive diagnosis in pediatric patients presenting with suggestive clinical features and supports family counseling.
| Feature | Our Test (NGS) | Sanger Sequencing | Whole Exome Sequencing |
|---|---|---|---|
| Precision / Coverage | Full coding region, intron-exon boundaries | Targeted single variant | All genes, broader search |
| Method | Next-Generation Sequencing (NGS) | Sanger Sequencing | NGS with Exome Capture |
| Turnaround Time | 3 – 4 Weeks | 2 – 3 Weeks | 6 – 8 Weeks |
| Price (AED) | 2800 AED | 3500 AED (est.) | 6000 AED (est.) |
Physician Insight & Safety Protocols
Clinical Perspective from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403): Lenz-Majewski hyperostotic dwarfism is a rare syndrome that demands a high index of clinical suspicion. The PTDSS1 NGS test provides a reliable molecular confirmation that can distinguish this entity from other osteochondrodysplasias. A positive result supports proactive orthopedic surveillance, hearing assessment, and developmental intervention planning. If the result is negative but clinical features remain convincing, further genomic investigation such as whole exome sequencing should be considered to rule out phenocopies or mosaic variants.
Advisory Notice
Medication and Treatment Advisory
Do not discontinue or modify any prescribed medications, supplements, or therapeutic regimens without explicit guidance from your referring physician. This genetic test provides diagnostic information only and does not replace ongoing clinical management or emergency medical care.
Patient Safety: Exclusion Criteria and Emergency Red Flags
Exclusion Criteria:
- Inadequate or hemolyzed blood specimen
- Missing signed informed consent or incomplete clinical history form
- Declined mandatory pre-test genetic counseling session
Red Flags (seek emergency care):
- Sudden respiratory distress or unexplained apnea
- Acute skeletal pain or suspected pathological fracture
- Severe feeding intolerance with documented weight loss
Patient FAQ & Clinical Guidance
1. What is the purpose of the PTDSS1 gene test for Lenz-Majewski syndrome?
This targeted NGS test detects pathogenic variants in the PTDSS1 gene to confirm or exclude Lenz-Majewski hyperostotic dwarfism with a clinical sensitivity exceeding 99.9%. It is indicated for children who present with dysmorphic craniofacial features, progressive skeletal hyperostosis, proportionate short stature, and developmental delay, particularly when a family history is suggestive. Early molecular diagnosis allows for tailored orthopedic management, audiologic monitoring, and developmental intervention strategies.
2. How should I prepare for the test and what specimen is needed?
The test requires a peripheral whole blood sample (2–3 ml collected in an EDTA tube) or a dried blood spot on an FTA card. No fasting is required. A mandatory pre-test genetic counseling session will be scheduled to document a three-generation pedigree and discuss the implications of testing. Our certified mobile phlebotomy team collects the specimen at your home between 8 AM and 11 PM under strict temperature-controlled chain-of-custody protocols.
3. How are results interpreted and communicated?
A positive result confirms the clinical diagnosis of Lenz-Majewski syndrome and will be communicated via a secure clinical report within 3–4 weeks, followed by a scheduled telephonic session with a consultant medical geneticist to discuss implications for management and family planning. A negative result reduces but does not entirely exclude the condition; if clinical suspicion remains high, additional testing such as whole exome sequencing or microarray analysis may be recommended to identify deep intronic variants or copy number alterations not covered by this assay.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under a DHA Facility License and strictly complies with all applicable UAE federal data protection and health information governance regulations. All genetic data collected through the PTDSS1 test is processed and stored in accordance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), governing the lawful collection, processing, and transfer of personal genetic data with explicit patient consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, which mandates cybersecurity safeguards and audit trails for all electronic health records and diagnostic results.
- Federal Decree-Law No. 4 of 2016 on Medical Liability, affirming that all clinical testing, informed consent procedures, and post-test counseling adhere to the standard of care required by UAE medical jurisprudence.
Patients retain full rights to access their data, request corrections, and withdraw consent at any stage of the testing process.
Clinical & Logistical Metadata
| Test Name | PTDSS1 Gene NGS Test – Lenz-Majewski Hyperostotic Dwarfism Genetic Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (2–3 ml in EDTA) or dried blood spot on FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina paired-end platform, full coding region and intron-exon boundary analysis |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 101842-9 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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