Test Price
2,800 AED✅ Home Collection Available
FLNA Gene Terminal Osseous Dysplasia Genetic Test – Comprehensive NGS Sequencing & Sanger Confirmation | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing, with orthogonal Sanger confirmation of all pathogenic variants.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM, ensuring sample stability across all Emirates.
- Clinical Guidance: Telephonic post-test clinical consultation with a DHA-licensed specialist to interpret results within the context of family history and clinical presentation.
- Insurance Support: Direct Billing Verification & Pre-Approval Assistance via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The FLNA Gene Terminal Osseous Dysplasia Genetic Test comprehensively sequences the entire coding region and splice sites of the FLNA gene using next-generation sequencing to detect pathogenic variants linked to the rare X-linked dominant disorder terminal osseous dysplasia with pigmentary defects. This test is indicated for individuals with clinical suspicion of FLNA-related dysplasia, family members of affected probands, and research cohorts investigating skeletal and pigmentary pathways.
| Feature | Our Test – FLNA NGS | Closest Alternative – Targeted Sanger (Known Variant) | Multigene Skeletal Dysplasia Panel |
|---|---|---|---|
| Precision | Exon-by-exon full gene sequencing with MLPA backup for deletions/duplications | Detects only the single familial variant previously identified | Covers multiple genes but may not include entire FLNA or offer equal depth |
| Methodology | NGS + Sanger orthogonal confirmation of reportable findings | Sanger sequencing of specific exon | NGS panel (often exome‑based) with variable coverage |
| Turnaround Time | 3–4 weeks (comprehensive report with clinical interpretation) | 1–2 weeks | 4–6 weeks (broader analysis) |
| Best Suited For | Initial diagnosis, atypical presentations, family screening | Known familial mutation follow‑up | When differential diagnosis includes other skeletal dysplasias |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I recognise that pursuing a genetic test for a rare disorder requires careful consideration. This FLNA gene test provides comprehensive sequence analysis, but results must always be interpreted alongside clinical findings and a detailed three-generation pedigree. A negative result does not exclude the diagnosis, and all care decisions should be made in collaboration with your specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Precautions
⚠ Important Medication Warning
Do not discontinue prescribed medication without consulting your doctor. This genetic test does not alter acute therapy and is not influenced by medications, fasting, or supplements. No special preparation is needed; however, a clinical history and genetic counselling session to construct a pedigree chart of affected family members are mandatory before testing.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to provide informed consent; patients with severe coagulopathy or haemophilia requiring special blood‑draw precautions – contact the centre prior to scheduling.
- Emergency Red Flags: If you experience sudden severe bone pain, pathological fracture, acute vision changes, or skin lesions that bleed or ulcerate before sample collection, seek immediate medical care at the nearest emergency department; do not wait for test results.
Patient FAQ & Clinical Guidance
1. What is the FLNA Gene Terminal Osseous Dysplasia Test, and whom is it for?
This advanced NGS test sequences the entire FLNA gene to identify mutations causing terminal osseous dysplasia, a rare genetic disorder characterised by skeletal anomalies and pigmentary defects. It is intended for individuals with clinical suspicion (limb bone anomalies, linear skin pigmentation), family members of an affected proband, and research cohorts studying FLNA‑related pathways. The test uses DNA extracted from blood or an FTA card; no prior fasting is required.
2. How accurate is this test, and can it detect all possible mutations?
The test achieves >99.9% analytical sensitivity and specificity for single nucleotide variants and small indels within the FLNA coding region, using state‑of‑the‑art NGS with Sanger confirmation. Large deletions or duplications are additionally evaluated through MLPA when indicated. However, deep intronic or promoter variants may not be fully covered. A negative result does not rule out a clinical diagnosis, and correlation with a genetic counsellor is essential.
3. What is the turnaround time, and how are samples collected?
Results are typically ready within 3 to 4 weeks from receipt of a high‑quality DNA sample. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection is available daily from 8 AM to 11 PM across all Emirates. A single blood drop on an FTA card is also accepted for remote collection. We handle insurance verification directly via WhatsApp, and a pre‑genetic counselling session is arranged to draw the family pedigree.
UAE Regulatory & Data Privacy Adherence
This test is performed in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring strict confidentiality and data security for all patient genetic information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing the secure electronic handling and storage of health records.
All clinical testing and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient safety, informed consent, and clinical accountability.
Clinical & Logistical Metadata
| Test Name | FLNA Gene Terminal Osseous Dysplasia Genetic Test (Full NGS Sequencing + Sanger Confirmation) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube) or FTA card blood spot. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) of FLNA coding region & splice sites + orthogonal Sanger confirmation + MLPA for deletions/duplications if indicated. |
| ICD-10-CM Code | Q87.0 (Other specified congenital malformation syndromes) |
| LOINC Code | 94207-1 (FLNA gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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