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Test Price

2,800 AED

✅ Home Collection Available

CTH Gene Cystathioninuria NGS Test in UAE | 2800 AED | 2026 DHA Guidelines

تحليل جين CTH للسيستاثيونينوريا في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي

Executive Summary (الملخص التنفيذي)

يُقدّم هذا الاختبار الجيني تحليلاً دقيقاً لتسلسل جين CTH عبر تقنية الجيل التالي، مما يضمن تشخيصاً موثوقاً لاضطراب السيستاثيونينوريا النادر، مع امتثال كامل لقوانين هيئة الصحة بدبي والخصوصية الطبية.

Clinical Excellence at a Glance

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
  • Premium Logistics: Paid Hospital‑Grade Home Collection via ISO Certified Cold‑Chain (8 AM – 11 PM).
  • Clinical Guidance: Complimentary Telephonic Post‑Test Result Interpretation.
  • 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

TAT: 3–4 Weeks

2800 AED

Facility License: 9834453

Test Overview – Cystathioninuria NGS Analysis

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 Protocol

Dr. PRABHAKAR REDDY (DHA: 61713011) 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 & ER 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 Federal Decree‑Law No. 41 of 2024 (Art. 87) and CDS Law 2026 for minors.

Frequently Asked Questions – Clinical Guidance

1. ما هي دقة هذا الاختبار في اكتشاف مرض السيستاثيونينوريا؟

Snippet: 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.

تحليلنا يغطي كامل المورثة CTH بدقة تشخيصية تبلغ 99.9%، مع تأكيد جميع الطفرات المسببة للمرض بتقنية سانجر لضمان أعلى درجات اليقين.

2. هل يُقبل اختبار الدم على بطاقة FTA للأطفال الرضع؟

Snippet: 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.

نعم، تُستخدم بطاقة FTA المعتمدة من هيئة الصحة بدبي لجمع قطرة دم واحدة من الرضع والأطفال دون عامين، وهي طريقة موثوقة لاستخلاص الحمض النووي وتحليله.

3. متى يجب إجراء الاستشارة الوراثية قبل الاختبار؟

Snippet: Mandatory genetic counselling must be completed before sample collection; a certified counsellor will draw a detailed family pedigree to correlate with results.

جلسة الاستشارة الوراثية إلزامية قبل إجراء التحليل، حيث يقوم أخصائي الوراثة برسم شجرة العائلة لتحديد نمط الوراثة ومساعدة الطبيب في تفسير النتائج بدقة.

Compliance & Accreditation

ISO 9001:2015 Certified | Cert: INT/EGQ/2509DA/3139 · UAE PDPL (Federal Decree‑Law No. 45 of 2021) Compliant · All genetic data processed under strict confidentiality per UAE Law No. 41 of 2024 (Art. 87) and CDS Law 2026 (Minors)

Relevant ICD‑10‑CM: E72.19 (Cystathioninuria) · Z15.89 (Genetic susceptibility to other disease) · Z84.89 (Family history of other specified conditions) | LOINC: 81247‑7 (DNA region of interest analysis)

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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.

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