Test Price
2,800 AED✅ Home Collection Available
CANT1 Gene Desbuquois Dysplasia Type 1 Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
This advanced genetic test provides definitive molecular confirmation for Desbuquois dysplasia type 1 through ISO‑accredited next‑generation sequencing (NGS) of the CANT1 gene, achieving a diagnostic accuracy guarantee of 99.9% analytical sensitivity and specificity.
- Premium Home Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Post‑Test Clinical Guidance: Complimentary tele‑genetic counselling with a DHA‑licensed genetics specialist to interpret results and guide management.
- Insurance Direct Billing: Instant eligibility verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CANT1 gene test analyses the entire coding sequence and splice sites to detect pathogenic variants causing Desbuquois dysplasia type 1, a rare autosomal recessive skeletal disorder. This single-gene next‑generation sequencing (NGS) assay provides definitive molecular confirmation for differential diagnosis in newborns and children presenting with characteristic dysmorphic features, joint dislocations, and severe growth retardation.
| Feature | Our CANT1 NGS Test | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Target Depth | >200× uniform coverage of CANT1 gene | ~100× average; may miss deep intronic or splice variants |
| Turnaround Time | 3–4 weeks | 8–12 weeks |
| Clinical Interpretation | Focused reporting with ACMG variant classification | Incidental findings require additional validation |
| Cost | 2,800 AED | ≥ 4,500 AED |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Every CANT1 result must be correlated with the patient’s full clinical phenotype and family history; a negative sequencing result does not exclude other syndromic forms of skeletal dysplasia. This test is designed to complement, not replace, comprehensive paediatric and genetic evaluation. Please ensure that a pretest genetic counselling session is completed to map the pedigree and discuss potential outcomes as part of the standard protocol.
Essential Advisory & Exclusion Criteria
- Inability to provide legally authorized informed consent (required for minors per UAE Federal Law).
- Acute febrile illness or haemodynamic instability that precludes a safe blood draw.
- Known severe coagulopathy or ongoing anticoagulation therapy that cannot be temporarily adjusted.
- Emergency Red Flags: If after sample collection you experience syncope, uncontrolled bleeding, or signs of infection at the puncture site, seek immediate medical attention.
Patient FAQ & Clinical Guidance
1. What is the CANT1 gene and how does it cause Desbuquois dysplasia type 1?
The CANT1 gene provides instructions for a protein involved in glycosylation and cartilage formation; pathogenic variants in this gene disrupt bone development, leading to short stature, joint dislocations, and distinctive facial features observed in newborns and children with this rare skeletal disorder.
2. How is the NGS test performed and what sample type is required?
This test requires a single peripheral whole blood sample, extracted DNA, or a blood spot on an FTA card. The sample undergoes high‑depth next‑generation sequencing to read the entire CANT1 gene with high accuracy, followed by Sanger confirmation, with results typically available within three to four weeks.
3. What do positive or negative CANT1 results mean for my child’s health?
A positive result identifying a pathogenic or likely pathogenic variant confirms the molecular diagnosis of Desbuquois dysplasia type 1, enabling targeted management and accurate genetic counselling. A negative result does not rule out other genetic skeletal disorders, and further evaluation by a clinical geneticist is recommended to explore alternative diagnoses.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE strictly complies 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 to ensure the highest standards of patient data security and confidentiality. Clinical genetic testing safety and informed patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our facility is fully DHA-licensed and certified under ISO 9001:2015 for quality management systems.
Clinical & Logistical Metadata
| Test Name | CANT1 Gene Desbuquois Dysplasia Type 1 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | Q77.8 |
| LOINC Code | 94233-4 |
| DHA License & Address | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DHA Facility License No: 1143 |
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