Test Price
2,800 AED✅ Home Collection Available
IGF1 Gene NGS Testing for Growth Retardation, Deafness, and Intellectual Disability Due to IGF1 Deficiency in UAE | 2,800 AED
Executive Summary & Core Metrics
Comprehensive NGS-Based IGF1 Gene Analysis
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing covering all coding exons, flanking intronic regions, and established promoter variants.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM, staffed by paediatric-trained phlebotomists using child-friendly techniques.
- Clinical Guidance: Telephone post-test consultation for interpretation of genetic findings, treatment implications, and next-step planning.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The IGF1 gene sequencing test identifies pathogenic variants in the IGF1 gene responsible for a rare autosomal recessive syndrome characterised by severe prenatal and postnatal growth failure, sensorineural deafness, and global developmental delay. Our next-generation sequencing (NGS) assay delivers a diagnostic yield exceeding 99% by analysing all coding exons, intron-exon boundaries, and known promoter regions in a single workflow.
A positive molecular finding confirms the clinical diagnosis of IGF1 deficiency, enables initiation of recombinant human IGF-1 therapy, guides audiological and educational interventions, and provides accurate recurrence risk counselling for families.
Why NGS Outperforms Conventional Sanger Sequencing
| Feature | DNA Labs UAE NGS IGF1 Panel | Conventional Sanger Sequencing |
|---|---|---|
| Methodology | Next-generation sequencing – full gene with deep intronic coverage | Sanger sequencing – coding exons only |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Clinical Sensitivity | >99% (detects deep intronic, splice-site, and promoter variants) | ~95% (may miss non-coding pathogenic variants) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) states: “This NGS-based IGF1 gene test provides definitive molecular confirmation for patients presenting with the classic triad of severe short stature, sensorineural hearing loss, and intellectual disability. The results must be interpreted alongside growth velocity measurements, baseline IGF-1 and IGFBP-3 serum levels, and audiometric assessments. A confirmed diagnosis allows prompt initiation of rhIGF-1 replacement therapy and structured early intervention for hearing and developmental delays. Genetic counselling for recurrence risk in future pregnancies is an essential component of the post-test discussion.”
Advisory Notice – Medication & Clinical Management
⚠️ Do not discontinue prescribed growth hormone or rhIGF-1 therapy without direct consultation with your paediatric endocrinologist or clinical geneticist. Sudden cessation of therapy may lead to metabolic destabilisation and worsening of growth parameters. Use this test result as a diagnostic adjunct only; ongoing clinical monitoring remains mandatory.
Exclusion Criteria & Contraindications
- Not indicated for asymptomatic individuals without clinical signs or family history suggestive of IGF1 deficiency syndrome.
- Informed consent is mandatory; for minors, written parental or guardian consent is required in strict accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Recent blood transfusion within the preceding two weeks or active severe systemic infection – defer collection until clinically stable.
- Emergency red flags: New-onset seizures, acute respiratory distress, severe hypoglycaemic episode, or metabolic decompensation – seek immediate emergency medical care. This test is not intended for acute or crisis diagnosis.
Patient FAQ & Clinical Guidance
1. What is the purpose of this IGF1 gene test?
This test detects disease-causing DNA variants in the IGF1 gene, which are responsible for a rare syndrome of severe growth retardation, bilateral sensorineural deafness, and intellectual disability. Establishing a molecular diagnosis directs the appropriate use of recombinant human IGF-1 therapy and enables precise genetic counselling for the entire family.
2. How is the sample collected and is the procedure painful?
Sample collection is performed via a standard peripheral venous blood draw or a finger-prick capillary sample onto an FTA card. Both methods are minimally invasive. Our paediatric-trained phlebotomists employ child-friendly distraction techniques and topical anaesthetic patches to minimise discomfort.
3. How long does it take to receive results and who interprets them?
Results are reported within 3 to 4 weeks from sample receipt at the laboratory. A board-certified consultant medical geneticist provides the final interpretation, and a scheduled telephonic consultation is offered to explain the clinical significance and recommend next steps for management.
UAE Regulatory & Data Privacy Adherence
Trust & Compliance Framework
All genetic data generated by this test is processed and stored 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 and medical liability are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
DNA Labs UAE holds DHA Facility License Number 1143 and operates under ISO 9001:2015 accreditation (Cert: INT/EGQ/2509DA/3139). Your genomic results remain confidential and are accessible only to the requesting physician and the reporting clinical genetics team.
Clinical & Logistical Metadata
| Test Name | IGF1 Gene NGS Sequencing – Growth Retardation, Deafness, and Intellectual Disability due to IGF1 Deficiency |
| 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 finger-prick sample. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection is available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina platform with targeted enrichment covering all coding exons, splice junctions, and promoter regions of the IGF1 gene |
| ICD-10-CM Code | E34.3 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 – DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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