Test Price
2,800 AEDโ Home Collection Available
FGFR1 Gene Hartsfield Syndrome Genetic Test (NGS) in Dubai, UAE โ 2800 AED
Executive Summary & Core Metrics
- Diagnostic Sensitivity: >99.9% via targeted next-generation sequencing (NGS) of the FGFR1 gene coding region.
- Accreditation: ISO 9001:2015 certified processing (Cert. INT/EGQ/2509DA/3139).
- Logistics: VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily 8 AM โ 11 PM.
- Post-Test Support: Telephonic clinical geneticist consultation included for result interpretation and care planning.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The FGFR1 Gene Hartsfield Syndrome NGS Test sequences the entire coding region of the FGFR1 gene using targeted next-generation sequencing, identifying pathogenic mutations responsible for this rare dysmorphology syndrome characterized by holoprosencephaly, ectrodactyly, and craniofacial anomalies. This definitive molecular assay confirms clinical suspicion in paediatric patients and enables informed genetic counselling for families.
| Feature | Our NGS Test (Premium) | Standard Sanger Sequencing |
|---|---|---|
| Methodology | Targeted NGS (full gene, deep coverage) | Sanger sequencing of selected exons |
| Variant Detection | All coding mutations (novel and known) | Previously reported mutations only |
| Turnaround Time | 3 โ 4 weeks | 5 โ 6 weeks |
| Diagnostic Sensitivity | >99.9% | ~85โ90% (dependent on exon selection) |
| Price (UAE) | 2,800 AED | ~2,000 AED |
Physician Insight & Safety Protocols
โAs a DHA-licensed Consultant Medical Geneticist, I emphasise that FGFR1 sequencing results must be interpreted alongside clinical dysmorphic features, olfactory function, and endocrine assessments. This test provides definitive molecular confirmation that supports early hormone replacement therapy, craniofacial surgical planning, and accurate recurrence risk counselling for families. Do not alter any prescribed therapy without consulting your supervising physician.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
โ ๏ธ Medication Advisory
Do not discontinue or modify any prescribed medication without explicit guidance from your treating physician.
Safety Exclusion Criteria & Red Flags
- Exclusion: Haemolysed or lipemic blood sample; insufficient extracted DNA yield (< 50 ng/ยตL).
- Exclusion: Blood transfusion within the previous 2 weeks (risk of donor DNA carryover).
- Red Flag: Seek emergency care immediately if the child develops sudden respiratory distress, seizures, or signs of raised intracranial pressure during the waiting period.
Patient FAQ & Clinical Guidance
1. What is the turnaround time and cost for the FGFR1 Hartsfield syndrome NGS test?
The FGFR1 Hartsfield syndrome NGS test delivers results in 3โ4 weeks for 2,800 AED, and includes a complimentary telephonic consultation with a clinical geneticist to interpret the findings and guide next steps.
2. Is the test safe for newborns and infants?
Yes. A small peripheral blood sample (1 mL) is collected by DHA-licensed paediatric phlebotomists using sterile, baby-friendly techniques under a temperature-controlled cold-chain protocol to ensure sample integrity.
3. Does the price include a post-test consultation?
Absolutely. The 2,800 AED fee covers a structured telephonic session with a consultant medical geneticist who will explain your childโs results, discuss recurrence risks, and coordinate referrals with your paediatric team.
UAE Regulatory & Data Privacy Adherence
All genetic data generated by this assay is stored and processed in full compliance 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. Patient consent, data minimisation, and secure transmission protocols are strictly enforced. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | FGFR1 Gene Hartsfield Syndrome Genetic Test (Targeted NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 โ 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (1 mL); VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily 8 AM โ 11 PM |
| Methodology Used | Targeted next-generation sequencing (NGS) โ full gene coding region, deep coverage |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes affecting multiple systems) |
| LOINC Code | 82927-8 (FGFR1 gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Address | License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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