Test Price
2,800 AED✅ Home Collection Available
CTH Gene Cystathioninuria NGS Test in UAE – 2800 AED – DNA Labs UAE
Executive Summary & Core Metrics
Clinical Excellence at a Glance
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Daily 8 AM – 11 PM).
- Clinical Guidance: Complimentary Telephonic Post‑Test Result Interpretation by a Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Specimen Requirements
- • Whole Blood (EDTA) or Extracted DNA
- • One Drop Blood on FTA Card (relaxed logistics)
- • Genetic Counselling & Pedigree Chart Mandatory
2800 AED
Turnaround: 3–4 Weeks
Test Overview & Methodology
This next‑generation sequencing (NGS) test interrogates the entire coding region of the CTH gene to detect pathogenic variants causing cystathioninuria, a rare inborn error of sulfur amino acid metabolism. Designed for both diagnostic confirmation and familial screening, it provides clinicians with comprehensive variant data.
| Feature | Our CTH NGS Test | Closest Alternative |
|---|---|---|
| Precision | 99.9% sensitivity, full gene sequencing (all exons, intron‑exon boundaries) | Targeted mutation panel; may miss rare variants |
| Method | NGS (Illumina® platform) with Sanger confirmation | Sanger sequencing of selected regions only |
| Turnaround | 3–4 weeks from sample receipt | 6–8 weeks typical |
* Methodology: NGS (Next Generation Sequencing). Sample stability validated for FTA card, extracted DNA, and whole blood.
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) notes: “The clinical interpretation of CTH variants requires careful correlation with biochemical findings (plasma cystathionine, amino acid profile). A negative NGS result does not rule out all forms of cystathioninuria; always integrate biochemical markers and family history. My team is available for result clarification — never alter therapy without professional guidance.”
Clinical Safety Warning
Do not discontinue prescribed medication or dietary management without consulting your treating physician.
Exclusion Criteria & Emergency Red Flags:
- Test is not indicated for acute metabolic decompensation — stabilize patient first.
- Newborn screening with severe hypermethioninemia requires urgent enzymatic assay.
- If the sample is collected outside DHA‑approved cold‑chain protocol, results may be invalid.
- Risk of misdiagnosis if prior bone marrow transplant/recent blood transfusion (consider alternative DNA source).
Pre‑Test Requirements (Clinical History & Genetic Counselling)
A thorough personal/family medical history and a genetic counselling session are mandatory. A pedigree chart documenting affected relatives must be provided alongside the specimen. This ensures accurate variant interpretation and aligns with UAE legal frameworks on patient safety and informed consent (Federal Decree‑Law No. 4 of 2016 on Medical Liability).
Patient FAQ & Clinical Guidance
1. What is the accuracy of this test for detecting cystathioninuria?
Our NGS test achieves 99.9% diagnostic sensitivity for CTH gene variants, covering all coding exons and splice sites, with orthogonal Sanger confirmation of pathogenic findings.
2. Is the blood drop on FTA card accepted for infants?
Yes, a single drop of blood on a DHA‑approved FTA card is fully validated for CTH gene sequencing, enabling easy collection from neonates and children under 2 years.
3. When is genetic counselling mandatory before the test?
Mandatory genetic counselling must be completed before sample collection; a certified counsellor will draw a detailed family pedigree to correlate with results and guide variant interpretation.
UAE Regulatory & Data Privacy Adherence
Compliance & Accreditation
ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) · Compliant with UAE Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) · All genetic data processed under strict confidentiality per Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | CTH Gene Cystathioninuria NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | E72.19, Z15.89, Z84.89 |
| LOINC Code | 81247-7 (DNA region of interest analysis) |
| 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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