Test Price
2,800 AED✅ Home Collection Available
RPS6KA3 Gene Coffin‑Lowry Syndrome Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2022 Accredited Next‑Generation Sequencing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (8 AM – 11 PM).
- Clinical Guidance: Complimentary Pre‑ and Post‑Test Genetic Counselling by a DHA‑licensed Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This Next‑Generation Sequencing (NGS) test analyzes the entire coding region and selected intronic boundaries of the RPS6KA3 gene to detect pathogenic variants associated with Coffin‑Lowry syndrome (CLS). CLS is an X‑linked dominant disorder characterized by intellectual disability, characteristic dysmorphic facial features, progressive skeletal abnormalities, and short stature. Early molecular confirmation via high‑depth NGS enables accurate genetic counselling, targeted clinical surveillance, and informed family planning decisions.
| Parameter | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Technology | Next‑Generation Sequencing (NGS) | Single‑gene Sanger |
| Variant Detection | Whole gene – SNVs, indels, copy number changes | Limited to targeted exons only |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Diagnostic Confidence | >99.9% Sensitivity / >99.9% Specificity | ~95% Sensitivity (misses deep intronic/CNV) |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that molecular confirmation of RPS6KA3 variants must be integrated with a comprehensive clinical evaluation and a detailed three‑generation family pedigree. This NGS panel provides definitive aetiological diagnosis, which is crucial for anticipatory guidance and management of associated comorbidities. However, genetic test results should never prompt abrupt changes to an established treatment plan without a dedicated multi‑disciplinary consultation.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Safety Advisory
- Do not discontinue prescribed medication without consulting your doctor. Genetic test results are not a standalone substitute for active clinical management.
- Clinical Red Flags: If the patient experiences acute uncontrolled seizures, sudden loss of consciousness, or respiratory distress, proceed to the nearest emergency room immediately. This diagnostic test does not replace acute medical care.
Specimen Collection & Exclusion Criteria
- Standard Collection: Peripheral whole blood (3–5 mL) in an EDTA tube, extracted DNA, or dried blood spot on an FTA card.
- Exclusion: Individuals with severe haemophilia or active infection at the venipuncture site should postpone collection until resolved. No other absolute contraindications exist for standard blood or buccal DNA collection.
Patient FAQ & Clinical Guidance
1. What is Coffin‑Lowry syndrome and how is this test used?
Coffin‑Lowry syndrome (CLS) is a rare X‑linked dominant genetic disorder caused by pathogenic variants in the RPS6KA3 gene. This NGS test identifies these variants to provide a definitive molecular diagnosis, enabling precise genetic counselling, early intervention, and surveillance for associated conditions such as cardiac abnormalities or seizures.
2. What sample type is required for this genetic test?
The test requires a standard peripheral whole blood sample (3–5 mL) collected in an EDTA tube. Alternatively, extracted DNA or a dried blood spot on an FTA card is acceptable. Our DHA‑licensed phlebotomist performs a safe, minimally invasive draw during your scheduled home visit.
3. How long does it take to get the results?
The turnaround time for the RPS6KA3 gene NGS test is 3 to 4 weeks from the date the sample reaches our accredited laboratory. This accounts for library preparation, high‑depth sequencing, bioinformatics analysis, and clinical variant interpretation.
4. Does insurance cover the RPS6KA3 gene test in the UAE?
Coverage varies by insurance provider and policy. DNA Labs UAE offers direct billing verification for many major insurers. Please send a copy of your insurance card via WhatsApp to +971 54 548 8731 to confirm your outpatient genetic testing benefits.
5. What is the total price of the Coffin‑Lowry syndrome genetic test in the UAE?
The all‑inclusive price for the RPS6KA3 gene NGS test is 2,800 AED. This covers the genetic sequencing, comprehensive bioinformatics analysis, a detailed clinical report, and a post‑test telephonic consultation with a Consultant Medical Geneticist.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE strictly adheres 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. All clinical genetic testing and reporting are performed under the medico‑legal framework of Federal Decree‑Law No. 4 of 2016 on Medical Liability. Patient genomic data is encrypted, access‑controlled, and securely stored on UAE‑based servers to ensure the highest standards of confidentiality and data sovereignty.
Clinical & Logistical Metadata
| Test Name | RPS6KA3 Gene Sequencing (Coffin‑Lowry Syndrome) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL EDTA) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 97920-5 |
| DHA Facility License & Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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