Test Price
2,800 AED✅ Home Collection Available
AP4B1 Gene (SPG47) Next-Generation Sequencing (NGS) Genetic Test in UAE
Executive Summary & Core Metrics
Clinical Assurance Summary
The AP4B1 NGS test delivers definitive molecular diagnosis for Hereditary Spastic Paraplegia Type 47 (SPG47) through complete coding sequence analysis of the AP4B1 gene. This test is indicated for patients presenting with progressive lower limb spasticity, gait disturbance, and positive family history suggestive of autosomal recessive inheritance. Results are correlated with neurological examination and pedigree analysis under the supervision of a Consultant Medical Geneticist.
- Analytical Sensitivity: >99.9% for single nucleotide variants and small indels in AP4B1 coding regions.
- Turnaround Time: 3–4 weeks from sample receipt to final clinical report.
- Sample Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM.
- Clinical Guidance: Post-test telephonic counselling included for result interpretation and family cascade screening.
- Insurance Partner Support: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This targeted next-generation sequencing assay performs deep coverage analysis of all coding exons and flanking intronic regions (±20 base pairs) of the AP4B1 gene. The assay detects pathogenic point mutations, small insertions and deletions, and copy number variations associated with SPG47. Variant interpretation follows ACMG/AMP 2015 guidelines with 2024 updates, and all clinically significant findings are confirmed by Sanger sequencing prior to report release.
| Feature | AP4B1 Targeted NGS Panel | Whole Exome Sequencing (Alternative) |
|---|---|---|
| Diagnostic Precision for AP4B1 | >99.9% analytical sensitivity and specificity | ~95–98% with higher false negative risk due to shallower coverage |
| Coverage Depth | Deep targeted coverage (mean >200x) of AP4B1 exons ±20 bp | Exome-wide capture (mean 80–100x), variable per exon |
| Turnaround Time | 3–4 weeks | 6–10 weeks |
| Incidental Findings | Minimal; restricted to AP4B1 gene only | High; may uncover secondary variants requiring further evaluation |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I recognise the profound impact a definitive molecular diagnosis has on families navigating hereditary spastic paraplegia. The AP4B1 NGS test offers precise identification of pathogenic variants that inform prognosis, rehabilitation planning, and recurrence risk counselling. However, genetic results must always be interpreted in the context of a complete neurological examination, three-generation pedigree, and prior neuroimaging findings. Patients should bring all prior medical records, MRI reports, and nerve conduction studies to their pre-test consultation to ensure accurate variant attribution.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Essential Safety Precautions
This test is intended for diagnostic confirmation in stable, ambulatory patients. It is not an emergency test. Acute neurological decompensation requires immediate emergency department evaluation, not outpatient genetic testing.
- Contraindications: Active severe systemic infection, haemoglobin <8 g/dL, or concurrent acute neurological crisis. Defer blood collection until clinically stable for at least 72 hours.
- Medication Guidance: Do not discontinue prescribed antispastic agents (e.g., baclofen, tizanidine, dantrolene) prior to sample collection. Medication adjustments must only occur under direct supervision of the treating neurologist.
- Emergency Red Flags: Acute onset bilateral lower limb paralysis, new bowel/bladder incontinence, sudden vision loss, or respiratory difficulty—proceed immediately to the nearest emergency department. These symptoms may indicate acute cord compression, transverse myelitis, or Guillain-Barré syndrome requiring urgent intervention.
Patient FAQ & Clinical Guidance
1. What does the AP4B1 gene test detect?
Brief Answer: It identifies mutations in the AP4B1 gene that cause SPG47, a rare progressive neurological disorder characterised by lower limb spasticity and weakness.
Our targeted NGS assay screens all coding exons, flanking intronic regions, and the 5′/3′ untranslated regions of AP4B1 for point mutations, small insertions/deletions, and copy number variations. This genetic confirmation distinguishes SPG47 from other hereditary spastic paraplegias (e.g., SPG3A, SPG4, SPG7) and enables accurate prognosis, early physiotherapy referral, and informed family planning. A negative result does not rule out all genetic causes of spastic paraplegia; additional gene panel testing or whole exome sequencing may be recommended by your geneticist.
2. How should I prepare for the test and what sample is needed?
Brief Answer: No fasting or special preparation is needed. A blood sample (3–5 mL in EDTA), pre-extracted DNA, or a dried blood spot on an FTA card is accepted.
A trained phlebotomist will collect a venous blood sample during a scheduled home visit between 8 AM and 11 PM. For remote locations, a single blood spot on an FTA card preserves DNA at room temperature for weeks. Pre-test genetic counselling is strongly recommended to document the pedigree, confirm clinical indication, and discuss the implications of potential results including incidental findings. All samples are transported via medical courier with temperature-controlled cold-chain logistics to ensure DNA integrity.
3. Are my genetic data and privacy protected under UAE law?
Brief Answer: Yes, your genetic data is fully protected under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 concerning health information technology.
Our laboratory complies with the UAE PDPL requiring that all genetic data be encrypted, stored on secure local servers, and never shared without your explicit written consent. Access is restricted to the ordering physician and authorised laboratory personnel only. Additionally, ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) mandates documented data security protocols, regular audits, and breach notification procedures. Results are released exclusively to the ordering clinician or the verified patient through a secure portal with multi-factor authentication.
4. What is the turnaround time and how will I receive results?
Brief Answer: The standard turnaround time is 3–4 weeks from sample receipt. Results are provided as a detailed clinical report to your ordering physician.
Sequencing and bioinformatic analysis requires approximately 10–14 days, followed by variant interpretation, medical geneticist review, and Sanger confirmation of clinically significant findings (3–5 additional days). The final clinical report includes variant classification per ACMG criteria, inheritance pattern, clinical correlation, and recommendations for family cascade testing. A telephonic post-test counselling session is scheduled within 5 working days of report release to explain findings and discuss next steps.
5. Can this test be performed during pregnancy or for prenatal diagnosis?
Brief Answer: This test is validated for postnatal diagnosis only. For prenatal testing, please consult a maternal-fetal medicine specialist for appropriate referral to an accredited prenatal genetics laboratory.
The AP4B1 NGS assay described here is optimised for genomic DNA extracted from peripheral blood or buccal samples and is not validated for chorionic villus sampling, amniocentesis, or cell-free fetal DNA. Prenatal diagnosis of SPG47 requires a dedicated prenatal genetics workflow including rapid aneuploidy screening and validation on fetal-derived DNA. If family-specific pathogenic variants are known, preimplantation genetic testing for monogenic disorders (PGT-M) may also be discussed with your reproductive endocrinologist.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This laboratory service operates under the regulatory oversight of the Dubai Health Authority (DHA) and complies with all applicable UAE federal laws governing clinical genetic testing and patient data protection.
- Data Protection: Full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). All genetic data is encrypted at rest and in transit, stored locally on UAE-based servers, and accessible only to authorised personnel with verified credentials.
- Health Information Technology: Adherence to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic health record management and interoperability standards.
- Medical Liability & Patient Consent: All testing is conducted under the framework of Federal Decree-Law No. 4 of 2016 on Medical Liability, requiring written informed consent prior to sample collection, explicit disclosure of potential incidental findings, and the right to withdraw consent at any stage.
- Quality Accreditation: ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) with documented quality management system, regular internal audits, and external proficiency testing participation.
Clinical & Logistical Metadata
| Test Name | AP4B1 Gene (SPG47) Next-Generation Sequencing (NGS) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Whole blood (3–5 mL in EDTA tube), pre-extracted genomic DNA (≥1 µg at ≥50 ng/µL), or dried blood spot on FTA card |
| Methodology Used | Targeted next-generation sequencing (NGS) with deep coverage of AP4B1 coding exons ±20 bp flanking introns; Sanger confirmation of clinically significant variants |
| ICD-10-CM Code | G11.4 (Hereditary spastic paraplegia) |
| LOINC Code | 94243-0 (AP4B1 gene mutation analysis in Blood or Tissue by Molecular genetics method NGS) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians