Test Price
2,800 AED✅ Home Collection Available
FGF8 Gene Hypogonadotropic Hypogonadism Type 6 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Overview & Service Guarantees
- Diagnostic Accuracy: 99.9% sensitivity via ISO 15189 accredited Next-Generation Sequencing (NGS) for comprehensive FGF8 gene analysis.
- Premium Logistics: VIP Mobile Phlebotomy with temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Post-Test Guidance: Telephonic clinical interpretation session with a Consultant Medical Genetics specialist.
- Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731.
This genetic test identifies pathogenic variants in the FGF8 gene responsible for autosomal dominant hypogonadotropic hypogonadism type 6, enabling precise diagnosis, informed family counselling, and tailored endocrine management under UAE regulatory frameworks.
Test Overview & Methodology
This DNA test employs Next-Generation Sequencing (NGS) to screen the entire coding region and splice junctions of the FGF8 gene, detecting mutations linked to hypogonadotropic hypogonadism type 6. Clinical presentation often includes delayed puberty, low gonadotropin levels, and anosmia (loss of smell). Results guide paediatric endocrinologists, geneticists, and fertility specialists in confirming the diagnosis, planning hormonal therapy, and offering recurrence risk counselling to families.
The analysis is performed on peripheral whole blood or extracted genomic DNA using Illumina-based NGS chemistry with 50x minimum depth of coverage. All pathogenic, likely pathogenic, and variants of uncertain significance are reported according to ACMG/AMP guidelines and correlated with the patient's endocrine profile and family pedigree.
Test Comparison: Our Advantage
| Feature | Our FGF8 NGS Test | Typical Alternative |
|---|---|---|
| Precision | Full gene sequencing (coding + splice sites) | Targeted mutation panel only |
| Methodology | NGS (Massively Parallel Sequencing) | Sanger sequencing (single amplicon) |
| Turnaround | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I emphasise that a positive FGF8 mutation confirms the genetic aetiology of hypogonadotropic hypogonadism type 6, yet results must always be integrated with comprehensive endocrine profiling. A negative result does not exclude the condition; we consider other genes such as FGFR1, KAL1, PROK2, and PROKR2. Correlation with the patient's pubertal stage, sense of smell, and family history is essential. Our role is to guide families with evidence-based hope and clarity.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
This genetic test is diagnostic in nature and does not replace clinical consultation or ongoing treatment. Do not discontinue prescribed hormonal therapy (e.g., testosterone, gonadotropins) without explicit guidance from your endocrinologist. All therapeutic decisions must be made by your qualified healthcare provider based on complete clinical evaluation.
Exclusion Criteria & Emergency Red Flags
- Do not collect sample if the patient has an acute febrile illness or active systemic infection.
- A pre-test genetic counselling session is mandatory before sample submission; a detailed three-generation family pedigree must be provided.
- This test is not validated for patients who have received allogeneic bone marrow transplant within the last 12 months.
- Post-collection, seek emergency care if you develop uncontrolled bleeding, signs of infection at the puncture site, or difficulty breathing.
Patient FAQ & Clinical Guidance
1. What is the purpose of the FGF8 gene NGS test?
This test detects pathogenic mutations in the FGF8 gene responsible for hypogonadotropic hypogonadism type 6, a condition that delays puberty and often causes anosmia (loss of smell). The results enable accurate diagnosis, tailored endocrine treatment, and informed family planning through recurrence risk assessment.
2. How is the sample collected and how long will results take?
A standard peripheral whole blood sample is collected by our DHA-licensed VIP mobile phlebotomy team via temperature-controlled cold-chain home delivery, available daily from 8 AM to 11 PM. Alternatively, genomic DNA extracted from a prior sample may be accepted. The turnaround time is 3 to 4 weeks from sample receipt at our Dubai Healthcare City laboratory.
3. Is genetic counselling mandatory before undergoing this test?
Yes, a pre-test genetic counselling session is compulsory. Our Consultant Medical Genetics specialist will construct a detailed family pedigree, explain autosomal dominant inheritance patterns, discuss the implications of possible results, and obtain written informed consent in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability. A post-test counselling session is also provided to interpret results.
4. What does a positive FGF8 mutation result mean for my family?
A pathogenic FGF8 mutation indicates autosomal dominant hypogonadotropic hypogonadism type 6, meaning each child of an affected individual has a 50% chance of inheriting the mutation. Penetrance is incomplete and expressivity varies; some family members may exhibit only mild hyposmia or partial pubertal delay. Genetic counselling is strongly recommended for at-risk relatives.
5. Can this test detect all causes of hypogonadotropic hypogonadism?
No, this test is specific to the FGF8 gene associated with type 6. Hypogonadotropic hypogonadism has a heterogeneous genetic background involving over 30 genes (including FGFR1, KAL1, PROK2, PROKR2, GNRHR, and CHD7). A negative FGF8 result does not rule out other genetic forms; our laboratory offers extended gene panels for comprehensive evaluation when clinically indicated.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance
Your genetic data is processed in strict 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. All genomic sequence data is encrypted, pseudonymized, and stored on UAE-based secure servers with restricted access logs. Patient consent for genetic analysis, data storage, and future re-analysis is obtained through a transparent, written process that respects your right to withdraw consent at any time. Our DHA-licensed facility adheres to ISO 15189:2012 standards for medical laboratory quality and competence.
Clinical & Logistical Metadata
| Test Name | FGF8 Gene Hypogonadotropic Hypogonadism Type 6 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3-5 mL in EDTA) or Extracted Genomic DNA (minimum 500 ng) |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina platform, 50x minimum depth, ACMG/AMP variant classification |
| ICD-10-CM Code | E23.0 (Hypopituitarism – Hypogonadotropic Hypogonadism) |
| LOINC Code | 21674-5 (Genetic analysis – FGF8 gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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