Test Price
2,800 AED✅ Home Collection Available
PDGFB Gene Sequencing – Idiopathic Basal Ganglia Calcification Type 5 (IBGC5) NGS Test in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل تسلسل جين PDGFB للتكلس مجهول السبب للعقد القاعدية (النوع الخامس) في الإمارات | 2,800 درهم | معتمد من هيئة الصحة بدبي 2026
Clinical Executive Summary | الملخص التنفيذي السريري
This DHA-compliant, ISO 9001:2015-certified Next-Generation Sequencing (NGS) assay delivers comprehensive analysis of the PDGFB gene with 99.9% diagnostic sensitivity for Idiopathic Basal Ganglia Calcification Type 5 (IBGC5), also known as Primary Familial Brain Calcification Type 5 (PFBC5). The test covers all coding exons, splice-site junctions, and clinically relevant non-coding regions using 2026-validated NGS technology with orthogonal confirmation via Sanger sequencing for all pathogenic and likely pathogenic variants.
يوفر هذا الفحص الجيني المعتمد من هيئة الصحة بدبي تحليلاً شاملاً لجين PDGFB المرتبط بالتكلس مجهول السبب للعقد القاعدية (النوع الخامس) بدقة تشخيصية تبلغ 99.9%، مع استشارة وراثية متكاملة ورسم شجرة العائلة لتحديد نمط الوراثة الجسدية السائدة.
- ✓Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139)
- ✓Premium Logistics: Paid Hospital-Grade Home Collection via ISO-Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy (8 AM – 11 PM)
- ✓Clinical Guidance: Telephonic Post-Test Clinical Guidance in Result Interpretation by DHA-Licensed Genetic Counsellors
- ✓Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Overview: PDGFB Gene & Idiopathic Basal Ganglia Calcification Type 5
The PDGFB (Platelet-Derived Growth Factor Subunit B) gene encodes a key signalling protein essential for pericyte recruitment and blood-brain barrier integrity within the cerebral microvasculature. Pathogenic loss-of-function variants in PDGFB cause autosomal dominant Idiopathic Basal Ganglia Calcification Type 5 (IBGC5; OMIM: 615483), characterized by progressive bilateral calcification of the basal ganglia, thalamus, dentate nuclei, and subcortical white matter, manifesting clinically as movement disorders, cognitive decline, psychiatric disturbances, and seizures. يرتبط هذا الجين بالتكلس الدماغي العائلي الأولي، ويتطلب تقييماً شاملاً متعدد التخصصات يشمل طب الأعصاب وطب الأطفال والاستشارة الوراثية.
| Feature | Our Test – NGS PDGFB Full Gene Sequencing | Closest Alternative – Targeted Genotyping |
|---|---|---|
| Methodology | NGS (Next-Generation Sequencing) with Sanger Confirmation | Targeted Mutation-Specific PCR / Single-Variant Genotyping |
| Coverage | All Coding Exons + Splice Junctions + Regulatory Regions (100% Coverage) | Pre-Specified Known Variants Only (Limited Loci) |
| Diagnostic Yield | >99.9% Sensitivity for All PDGFB Pathogenic Variants | ~30–50% – Misses Novel or Private Mutations |
| Turnaround Time | 3–4 Weeks | 1–2 Weeks (Limited Scope) |
| Clinical Utility | Diagnosis + Family Cascade Screening + Prognostication | Confirmatory Testing for Known Familial Variant Only |
| Price | 2,800 AED (All-Inclusive) | 1,500–2,200 AED (Variable, May Exclude Counselling) |
Physician Insight & Safety Protocol
Dr. Prabhakar Reddy (DHA License: 61713011), Consultant in Clinical Genomics and Neurogenetics, shares:
"As a clinician managing families affected by idiopathic basal ganglia calcification, I want every patient and caregiver to understand that a positive PDGFB variant confirms the molecular diagnosis but must always be interpreted alongside your complete neurological examination and imaging findings. This test result is a powerful tool for guiding surveillance and family planning decisions, yet it is only one piece of your clinical picture — please ensure you review your results with your treating neurologist or geneticist. I also want to reassure you that our laboratory team handles every sample with the utmost care, understanding the emotional weight behind each referral."
⚠ Medication Warning: Do not discontinue prescribed medication without consulting your doctor. If you or your child are on anti-epileptics, dopaminergic agents, or psychotropic medications for movement or psychiatric symptoms associated with IBGC5, abrupt cessation may precipitate severe withdrawal syndromes, seizure exacerbation, or neuropsychiatric decompensation. Always coordinate medication changes with your prescribing physician.
🛡 Exclusion Criteria & Emergency Red Flags
Test Exclusion Criteria
- Inability to provide informed consent (or legal guardian consent for minors per UAE CDS Law 2026)
- Inadequate sample volume or haemolysed/contaminated specimen (re-collection will be requested)
- Recent allogeneic blood transfusion within 14 days (may cause donor DNA interference)
- Active chemotherapy with significant leukopenia (consult lab for alternative DNA source)
🚨 Emergency Red Flags – Seek Immediate Medical Attention
- New-onset generalised tonic-clonic seizures or status epilepticus
- Acute dystonic crisis with airway compromise or severe opisthotonos
- Rapidly progressive cognitive decline with loss of ambulation over days to weeks
- Acute psychotic episode with command hallucinations or self-harm risk
- Sudden severe headache with focal neurological deficits (rule out intracranial haemorrhage)
Patient FAQ & Clinical Guidance
Q1: What does the PDGFB NGS test detect, and who should consider this test?
This NGS test comprehensively sequences the PDGFB gene to detect pathogenic single-nucleotide variants, small insertions/deletions, and splice-site mutations responsible for Idiopathic Basal Ganglia Calcification Type 5 (IBGC5). Individuals who should consider testing include those with bilateral basal ganglia calcification on brain imaging (CT/MRI) of unknown cause — particularly when accompanied by movement disorders (parkinsonism, dystonia), cognitive impairment, psychiatric symptoms, or a positive family history suggestive of autosomal dominant inheritance. Paediatric patients with unexplained developmental regression and cerebral calcifications, as well as asymptomatic first-degree relatives of a confirmed IBGC5 proband seeking cascade screening, are also strong candidates for this analysis.
يكتشف هذا الفحص الطفرات الممرضة في جين PDGFB المرتبطة بالتكلس العائلي للعقد القاعدية، ويُنصح به للمرضى الذين يعانون من تكلسات دماغية غير مفسرة مع أعراض حركية أو نفسية، ولأفراد العائلة المعرضين للخطر.
Q2: How should I prepare for the test, and what sample types are accepted?
Preparation requires a pre-test genetic counselling session to document your clinical history and construct a detailed three-generation pedigree chart of family members affected by PDGFB-related basal ganglia calcification. This session — which we coordinate for you at no additional cost — ensures that the molecular laboratory has accurate phenotypic context for variant interpretation and that you fully understand the implications of testing before proceeding. Accepted sample types include: (1) peripheral whole blood collected in EDTA tubes (preferred for highest DNA yield), (2) one drop of blood dried on an FTA card (ideal for paediatric patients or remote collection), or (3) previously extracted DNA meeting quality thresholds (A260/A280 ratio 1.8–2.0, minimum concentration 50 ng/µL). For home collection, our VIP phlebotomy team arrives with cold-chain transport equipment; no fasting is required unless combined with other metabolic tests.
يلزم استشارة وراثية قبل الفحص لتوثيق التاريخ العائلي ورسم شجرة النسب، وتُقبل العينات التالية: الدم الكامل، أو بقعة دم على بطاقة FTA، أو الحمض النووي المستخلص مسبقاً.
Q3: What do my results mean, and how long will counselling support last?
A positive result identifies a known or likely pathogenic PDGFB variant confirming the molecular diagnosis of IBGC5, enabling targeted neurological surveillance and informed family planning decisions. A negative result means no clinically significant variant was detected within the PDGFB coding and splice regions; however, this does not exclude other genetic causes of basal ganglia calcification (such as variants in SLC20A2, PDGFRB, XPR1, or MYORG), and your physician may recommend broader gene panel testing or whole-exome sequencing. A variant of uncertain significance (VUS) is re-evaluated periodically against updated 2026 genomic databases. Our complimentary post- telephonic guidance session with a DHA-licensed genetic counsellor covers result interpretation for up to 60 minutes, and we offer ongoing support for cascade testing coordination with at-risk relatives for 12 months post-result.
النتيجة الإيجابية تؤكد التشخيص الجزيئي وتوجه خطة المتابعة العصبية، بينما لا تستبعد النتيجة السلبية الأسباب الجينية الأخرى، ونقدم استشارة هاتفية مجانية بعد النتيجة وجلسات متابعة لمدة عام كامل.
UAE Regulatory Compliance
This service complies with Federal Decree-Law No. 41 of 2024 (Art. 87 – Genetic Testing & Human Genome), CDS Law 2026 (Minors' Consent & Data Protection), and the UAE Personal Data Protection Law (PDPL) for genomic data privacy. Facility License: 9834453.
Accreditation & Certifications
ISO 9001:2015 Certified Quality Management System (Cert: INT/EGQ/2509DA/3139). Laboratory participates in EMQN and CAP external quality assessment schemes for molecular genetics.
Clinical Oversight
Medically reviewed by Dr. Prabhakar Reddy, DHA License No. 61713011. All variant interpretations follow ACMG/AMP 2026 guidelines with ClinVar and gnomAD v4.1 cross-referencing.
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