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
Executive Summary & Core Metrics
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. The test covers all coding exons, splice-site junctions, and clinically relevant non-coding regions using validated NGS technology with orthogonal confirmation via Sanger sequencing for all pathogenic and likely pathogenic variants.
- ✓Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing
- ✓Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 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
Test Overview & Methodology
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.
| 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 Protocols
Lina Osama Zaki Quteineh (DHA Registration ID: 9294403), Consultant Medical Genetics, shares:
"When I review families with suspected idiopathic basal ganglia calcification, I emphasize that a molecular diagnosis through PDGFB sequencing provides clarity for surveillance and reproductive planning, yet it must be correlated with full neurological assessment and cranial imaging. This test is a precise tool, but its true value emerges when results are discussed within the broader clinical context by your treating specialist and genetic counsellor. Our laboratory adheres to strict quality protocols to ensure every sample is processed with the care and accuracy that each referral deserves."
Medication Advisory
⚠ 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 applicable UAE regulations)
- 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
1. 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.
2. 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.
3. 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 genomic databases. Our complimentary post-test 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.
UAE Regulatory & Data Privacy Adherence
This service complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for genomic data privacy, Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, and Federal Decree-Law No. 4 of 2016 on Medical Liability. All clinical testing safety and patient consent protocols adhere to the Medical Liability Law framework. The laboratory is ISO 9001:2015 certified and participates in EMQN and CAP external quality assessment schemes for molecular genetics. All variant interpretations follow ACMG/AMP guidelines with ClinVar and gnomAD cross-referencing. Medically reviewed by Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
Clinical & Logistical Metadata
| Test Name | PDGFB Gene Sequencing – Idiopathic Basal Ganglia Calcification Type 5 (IBGC5) |
| Price (AED) | 2,800 AED (All-Inclusive) |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Dried Blood Spot (FTA Card), or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | G23.8 |
| LOINC Code | 21665-7 |
| DHA Facility License & Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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