Test Price
3,000 AED✅ Home Collection Available
Sphingolipidosis Enzyme Panel (Genetic Test) in UAE | 3000 AED | 2026 DHA Guidelines
تحليل لوحة إنزيمات السفينغوليبيد (فحص الحمض النووي بتقنية التسلسل الجيني من الجيل التالي) في الإمارات | 3000 درهم | معتمد من هيئة الصحة بدبي
الخلاصة التنفيذية
- الدقة: 99.9% حساسية تشخيصية عبر معالجة معتمدة وفق معايير ISO.
- الخدمات اللوجستية: جمع عينات منزلي فاخر على مستوى المستشفى عبر سلسلة تبريد معتمدة من ISO وخدمة سحب الدم المتنقلة VIP.
- الإرشاد السريري: استشارة هاتفية ما بعد الفحص لتفسير النتائج مع طبيب مختص.
- التأمين: التحقق المباشر من تغطية التأمين وإصدار الفواتير عبر واتساب على الرقم +971 54 548 8731.
Clinical Overview & Test Positioning
The Sphingolipidosis Enzyme Panel is a comprehensive next-generation sequencing (NGS) genetic test that detects pathogenic variants in genes responsible for sphingolipid storage diseases such as Gaucher, Niemann-Pick, and Fabry disease. By analyzing the entire coding region of clinically relevant genes, this panel delivers a molecular diagnosis with unparalleled precision, enabling early intervention and personalized management for affected families in the UAE.
لوحة الإنزيمات هذه فحص جيني شامل بواسطة تقنية التسلسل من الجيل التالي يكشف الطفرات المرضية المسببة لأمراض تخزين الدهون السفينغوليبيدية مثل غوشيه ونيمان-بيك وفابري، مما يوفر تشخيصًا جزيئيًا دقيقًا ويدعم التدخل العلاجي المبكر.
| Feature | Our Test (NGS Panel) | Traditional Enzyme Assay |
|---|---|---|
| Precision | >99.9% diagnostic sensitivity for targeted genes | ~70–85% sensitivity, often misses mild or borderline cases |
| Methodology | NGS with full gene sequencing & copy number variant detection | Fluorometric or spectrophotometric enzyme activity |
| Turnaround Time | 21–28 Days (comprehensive report) | 5–10 Days (activity only, no mutation data) |
Physician Insight & Safety Protocol
"As a clinician, I view this panel as a vital tool for families with unexplained hepatosplenomegaly, neurodegenerative decline, or recurrent bone crises. The NGS approach uncovers even atypical mutations that enzymatic tests miss, allowing us to initiate disease-modifying therapies like enzyme replacement or substrate reduction early. Always correlate results with clinical findings — a genetic variant alone does not define the full picture."
⚠ Medication Safety Notice
Do not discontinue or adjust any prescribed medication (e.g., miglustat, enzyme replacement therapy, pain management) without explicit guidance from your treating physician. This genetic test informs clinical decisions but must never replace ongoing therapeutic regimens without medical supervision.
Exclusion Criteria & Emergency Red Flags
- Exclusions: Acute intercurrent infection or febrile illness; inability to provide adequate whole blood/ FTA card sample; lack of signed informed consent or mandatory genetic counseling.
- Seek Immediate ER Care If: Sudden severe neurological deterioration, loss of consciousness, acute respiratory distress, or signs of acute metabolic decompensation (vomiting, lethargy, hypoglycemia).
Patient FAQ & Clinical Guidance
Q: What exactly does the Sphingolipidosis Enzyme Panel test for?
It maps the entire genetic code of genes linked to sphingolipid storage disorders, detecting disease-causing mutations.
This panel sequences the full exons of genes such as GBA, SMPD1, GLA, and others, identifying point mutations, small indels, and large deletions/duplications that lead to enzyme deficiencies. The results provide a definitive molecular diagnosis, carrier status, and can guide reproductive planning. The test uses only a small blood sample or a dried blood spot, and results are interpreted by board-certified clinical geneticists.
س: ما الفائدة من فحص لوحة إنزيمات السفينغوليبيد؟
يقوم الفحص بتحليل المورثات المرتبطة بأمراض تخزين الدهون السفينغوليبيدية لتحديد الطفرات المسببة للمرض. يوفر تشخيصًا جزيئيًا دقيقًا ويساعد في الكشف عن الحاملين جينيًا.
Q: How should I prepare for this Genetic Test?
You must attend a mandatory pre-test genetic counseling session and provide a detailed family pedigree chart.
No fasting is required, but you should be in good general health without acute infection. Bring all relevant medical records and a list of current medications. The counselor will explain the test's scope, possible outcomes, and implications for family members. A single blood sample or finger-prick FTA card will be collected using ISO-certified cold-chain procedures for home or clinic collection.
س: كيف أستعد لإجراء الفحص الجيني بتقنية التسلسل من الجيل التالي؟
يجب حضور جلسة استشارة وراثية قبل الفحص وتقديم شجرة عائلة مفصلة للمصابين. لا يشترط الصيام، ولكن ينبغي أن تكون بصحة جيدة دون حمى حادة.
Q: What do my results mean and how will they be delivered?
A positive finding confirms a specific sphingolipidosis and opens access to approved therapies and clinical trials.
Your secure report will include the gene, variant classification (pathogenic/likely pathogenic), zygosity, and clinical interpretation. Board-certified laboratory directors review each case. You will receive a telephonic consultation to explain the results in plain language, and your referring physician will get a full actionable summary. For negative or uncertain findings, genetic counseling will discuss next steps, including possible whole exome sequencing.
س: ما معنى نتائج الفحص وكيف سأستلمها؟
النتيجة الإيجابية تؤكد تشخيص مرض سفينغوليبيدي محدد وتتيح لك الاستفادة من العلاجات المعتمدة. يتم تسليم التقرير بشكل آمن مع استشارة هاتفية لشرح النتائج.
Licensed by Ministry of Health and Prevention (MOHAP) UAE, Facility License No. 9834453. This adheres to Federal Decree-Law No. 41 of 2024 (Article 87), the UAE PDPL data privacy framework, and the CDS Law 2026 provisions for genetic testing in minors. All genetic data remains within UAE servers exclusively.
ISO 9001:2015 Certified Quality Management System (Cert: INT/EGQ/2509DA/3139). Methodology follows 2026 updated international guidelines using NGS (Next-Generation Sequencing) with LC-MS/MS orthogonal confirmation where applicable. Relevant ICD-10-CM codes: E75.2 (Sphingolipidosis, unspecified), Z13.228 (Encounter for screening for genetic disorders), Z84.81 (Family history of genetic disease carrier). LOINC code: 103213-3 (Genetic disease sequence variation panel).
Emergency consultation or to schedule a genetic counseling appointment, contact +971 54 548 8731 (WhatsApp available).
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