Test Price
2,800 AED✅ Home Collection Available
IBA57 Gene (Spastic Paraplegia Type 74) Autosomal Recessive Genetic Test
Executive Summary & Core Metrics
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2022 Accredited NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM, daily).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance included – interpret results with our DHA Consultant Medical Genetics team.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 (mention test code SPG74).
Test Overview & Methodology
The IBA57 gene provides instructions for a mitochondrial protein essential for iron‑sulfur cluster assembly; mutations cause autosomal recessive spastic paraplegia type 74 (SPG74). Our DHA‑accredited NGS test sequences the entire IBA57 coding region, delivering unmatched diagnostic clarity for individuals with progressive lower limb weakness and spasticity.
| Test Parameter | Our DHA NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Gene Coverage | Full IBA57 gene – all exons & intron‑exon boundaries | Limited to a few selected exons |
| Analytical Sensitivity | ≥99.9% (LC‑MS/Q‑TOF validated) | ≈90% |
| Turnaround Time | 3 – 4 weeks | 6 – 8 weeks |
| Methodology | Next Generation Sequencing (NGS) – global gold standard | Capillary Sanger (conventional) |
| DHA Accreditation & ISO | License 1143 · ISO 15189:2022 | Not guaranteed |
| Price | 2,800 AED | ~2,000 – 2,500 AED (limited scope) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh – Consultant Medical Genetics (DHA Registration: 9294403)
"A precise molecular diagnosis for spastic paraplegia type 74 can empower families and guide management. This test identifies pathogenic variants in the IBA57 gene, but it must be correlated with clinical findings and family history. Always maintain your current treatment regimen and consult your neurologist before making any changes."
Clinical Advisory
Do not discontinue any prescribed medication (e.g., baclofen, tizanidine, antispasticity agents) without consulting your treating physician. Genetic results do not replace clinical management.
Exclusion Criteria & Safety Red Flags
- Exclusion: Patients medically unfit for standard blood draw (severe haemodynamic instability, uncontrolled coagulopathy).
- Exclusion: Refusal to provide clinical history or undergo mandatory genetic counselling session (required under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability for minors).
- Emergency Red Flags (Seek immediate care): Sudden severe muscle weakness causing inability to walk, rapid respiratory difficulty, new‑onset seizures, or acute mental status changes. These may indicate a separate neurological emergency, not a stable genetic condition.
Patient FAQ & Clinical Guidance
1. What is the IBA57 gene and its link to spastic paraplegia type 74?
The IBA57 gene encodes a mitochondrial protein essential for iron‑sulfur cluster assembly and neurological health. Pathogenic variants disrupt energy production in motor neurons, leading to progressive spasticity and weakness characteristic of autosomal recessive spastic paraplegia type 74 (SPG74).
2. How is the IBA57 NGS test performed and what sample is required?
A blood or DNA sample is sequenced via next‑generation sequencing to detect IBA57 gene mutations. You can provide either a standard venous blood sample, extracted DNA, or a dried blood spot on an FTA card. Our mobile phlebotomy team collects the sample at your home, maintaining strict cold‑chain ISO protocols.
3. What do the results mean and how long does it take?
Results identify pathogenic IBA57 gene variants, enabling precise diagnosis and genetic counseling for families. A positive result confirms SPG74; a negative result may require further neurological investigation. Turnaround time is 3–4 weeks, and you will receive a tele‑counselling session with our DHA Consultant Medical Genetics to explain the clinical implications.
UAE Regulatory & Data Privacy Adherence
This test complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent are governed under Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is stored securely and processed with strict confidentiality.
Clinical & Logistical Metadata
| Test Name | IBA57 Gene (Spastic Paraplegia Type 74) Autosomal Recessive Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube) or extracted DNA / dried blood spot (FTA card) |
| Methodology Used | Next Generation Sequencing (NGS) – full gene coverage |
| ICD-10-CM Code | G11.4 (Hereditary spastic paraplegia) |
| LOINC Code | 81328-4 (IBA57 gene mutation analysis in Blood) |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians