Test Price
2,800 AED✅ Home Collection Available
HSPG2 Gene Schwartz-Jampel Syndrome Type 1 Genetic Test – NGS Molecular Confirmation
Executive Summary & Core Metrics
Analytical Sensitivity: >99.9% across all coding exons and splice junctions of the HSPG2 gene via validated NGS workflow. Specimen Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – available daily from 8 AM to 11 PM. Clinical Support: Post-test genetic counseling session included with every report. Insurance Verification: Coverage check via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) assay interrogates the entire coding region and conserved splice sites of the HSPG2 gene to detect pathogenic and likely pathogenic variants associated with Schwartz-Jampel syndrome type 1, a rare autosomal recessive disorder characterised by chondrodystrophic myotonia, skeletal deformities, and neuromuscular dysfunction. The test delivers full bioinformatic annotation including variant frequency, in silico pathogenicity prediction, and ACMG/AMP classification.
| Feature | HSPG2 NGS Panel | Sanger Sequencing (Single-Gene) |
|---|---|---|
| Precision | >99.9% analytical sensitivity for all coding exons and intronic boundaries | Limited to amplicon-specific regions; deep intronic and structural variants missed |
| Method | Next-Generation Sequencing with full bioinformatic annotation and CNV calling | Capillary electrophoresis; no CNV or deep intronic detection |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks (batched sequencing cycles) |
Physician Insight & Safety Protocols
“HSPG2-related Schwartz-Jampel syndrome type 1 presents with a distinct clinical triad of myotonia, skeletal dysplasia, and characteristic facial features. NGS-based confirmation is essential to distinguish this entity from other myotonic disorders and to guide recurrence risk counselling. I strongly advise correlating all genomic findings with a comprehensive neuromuscular evaluation and electrophysiological studies before finalising the treatment strategy.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory – Do Not Alter Prescriptions Without Clinical Guidance
This molecular test provides diagnostic clarification and must never replace ongoing clinical management. Patients under treatment for myotonia or associated symptoms should continue all prescribed therapies unless explicitly directed by their treating physician. Abrupt discontinuation may precipitate deterioration in muscle function or respiratory status.
Exclusion Criteria & Emergency Red Flags
- This test is not indicated for individuals in acute respiratory distress, those with unstable airway compromise, or patients requiring immediate emergency medical intervention.
- If you experience sudden severe muscle rigidity, unexplained high fever, dark-coloured urine, or breathing difficulty, proceed directly to the nearest emergency department — this test does not substitute for urgent clinical care.
- Specimen collection must be deferred during active febrile illness or suspected systemic infection without prior written clearance from the referring clinician.
Patient FAQ & Clinical Guidance
1. What is the HSPG2 gene test for Schwartz-Jampel syndrome type 1?
This NGS-based diagnostic test analyses the complete coding sequence and splice regions of the HSPG2 gene to identify pathogenic variants that cause Schwartz-Jampel syndrome type 1. It is indicated for individuals presenting with clinical features suggestive of chondrodystrophic myotonia, including short stature, joint contractures, muscle stiffness, and characteristic craniofacial dysmorphism. The test enables definitive molecular diagnosis and informs reproductive risk assessment for at-risk family members.
2. How is the test performed and what sample type is required?
The assay requires either a whole blood specimen collected in an EDTA tube, a purified DNA extract (minimum 1 µg), or a dried blood spot on an FTA card. Our certified phlebotomy team can perform a home visit between 8 AM and 11 PM daily, with strict temperature-controlled cold-chain transport to the laboratory. No special dietary or medication preparation is needed before collection.
3. What do the results mean and how is genetic counselling provided?
A positive result confirms the molecular diagnosis of Schwartz-Jampel syndrome type 1 and enables accurate recurrence risk estimation for parents, siblings, and future offspring. Variants are classified according to ACMG/AMP guidelines. Every report is accompanied by a telephonic or in-person genetic counselling session with our consultant medical geneticist to discuss implications for family planning, surveillance, and coordination of multidisciplinary care.
4. How long does the test take and how do I receive the report?
The standard turnaround time is 3–4 weeks from sample receipt. Reports are delivered electronically via secure email with a detailed interpretive summary, and a hard copy can be arranged on request. Urgent expedited processing may be available upon clinical justification — contact our logistics team for details.
UAE Regulatory & Data Privacy Adherence
This test and all associated data handling procedures comply 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. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). All genetic data is encrypted, access-restricted, and processed exclusively within the UAE jurisdiction.
Clinical & Logistical Metadata
| Test Name | HSPG2 Gene Schwartz-Jampel Syndrome Type 1 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) with Full Bioinformatic Annotation & CNV Calling |
| ICD-10-CM Code | G71.1, Z15.09, Q78.8 |
| LOINC Code | 77678-5 |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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