Test Price
2,800 AED✅ Home Collection Available
CYP19A1 Gene Aromatase Deficiency Genetic Test in UAE
Executive Summary & Core Metrics
Comprehensive NGS-based molecular analysis of the CYP19A1 gene for definitive diagnosis of aromatase deficiency, a rare endocrine disorder affecting estrogen biosynthesis.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by a DHA-licensed genetic specialist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CYP19A1 Genetic Test is a comprehensive next-generation sequencing analysis that identifies mutations in the CYP19A1 gene responsible for aromatase deficiency, a rare endocrine disorder affecting estrogen biosynthesis. This test provides definitive molecular diagnosis for reproductive, skeletal, and metabolic manifestations, guiding personalized treatment and genetic counselling.
| Feature | Our CYP19A1 NGS Test | Closest Alternative (Sanger/PCR) |
|---|---|---|
| Precision | 99.9% sensitivity; full gene coverage including deep intronic regions | Limited to known mutations; may miss novel variants |
| Methodology | Next Generation Sequencing (NGS) with CNV analysis | Sanger sequencing / targeted PCR |
| Turnaround Time | 3 to 4 Weeks | 6–8 Weeks, often with reflex to NGS |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I recognize the transformative diagnostic power of comprehensive NGS analysis for aromatase deficiency. This test provides precise molecular evidence that directly informs hormone replacement strategies and long-term metabolic monitoring. A negative result should prompt broader genomic investigation, and all findings require correlation with biochemical and radiological assessments.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Medication Advisory
Do not alter or discontinue any prescribed hormone therapy or endocrine medication without prior consultation with your treating physician. Genetic test results are intended to complement, not replace, ongoing clinical management.
Exclusion Criteria & Safety Information
- Active severe infection or acute medical crisis delaying elective genetic sampling.
- Inadequate sample volume or quality (whole blood, DNA, or FTA card).
- ER Red Flags: Sudden severe bone pain, heavy uterine bleeding, or signs of severe hormonal imbalance — seek immediate emergency care before scheduling genetic testing.
Patient FAQ & Clinical Guidance
1. What is the CYP19A1 gene aromatase deficiency NGS test?
Snippet: CYP19A1 NGS test sequences the entire CYP19A1 gene to identify mutations causing rare aromatase deficiency.
This advanced genetic test uses next-generation sequencing to read every coding region of the CYP19A1 gene, detecting single nucleotide variants, small insertions/deletions, and copy number changes. It confirms the molecular basis of aromatase deficiency, a condition that disrupts estrogen production and leads to virilization in females, tall stature in males, and skeletal fragility.
2. Who should consider this test?
Snippet: Individuals with clinical signs of aromatase deficiency like female virilization, male tall stature and infertility.
This test is recommended for patients presenting with ambiguous genitalia in 46,XX females, progressive virilization at puberty, primary amenorrhea, or males with extremely tall stature, delayed bone age, infertility, and osteopenia. It is also vital for family screening when a CYP19A1 mutation is known, and for genetic counselling in at‑risk pregnancies.
3. How are results interpreted and what are the next steps?
Snippet: Results identify pathogenic variants in CYP19A1; genetic counseling and hormone replacement therapy are often recommended.
A positive report details the specific mutation(s) and their clinical significance. A DHA-licensed geneticist will explain the impact on estrogen synthesis and guide you toward hormone replacement therapy (estrogen for females, testosterone for males as needed) and long‑term monitoring of bone density and metabolic health. If no mutation is found, further endocrinological evaluation and possible whole‑exome sequencing may be advised.
4. What sample is required and how is it collected?
Snippet: Whole blood, extracted DNA, or FTA card collected via home phlebotomy or at a DNA Labs UAE facility.
A standard peripheral whole blood sample is drawn by a certified phlebotomist. For your convenience, VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection is available daily from 8 AM to 11 PM. Alternatively, you may visit any DNA Labs UAE collection centre. Extracted DNA or FTA card samples are also accepted following a required pre-test genetic counselling session.
5. What is the turnaround time for this genetic test?
Snippet: Results are typically available within 3 to 4 weeks from sample receipt.
Once the sample reaches our ISO-accredited laboratory, the NGS workflow — including library preparation, sequencing, bioinformatic analysis, and clinical interpretation — is completed within 3 to 4 weeks. A comprehensive written report is delivered electronically and discussed during a follow-up telephonic consultation with a DHA-licensed genetic specialist.
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) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory certified ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). All DHA and MOHAP standards are strictly applied.
Clinical & Logistical Metadata
| Test Name | CYP19A1 Gene Aromatase Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) with CNV Analysis |
| ICD-10-CM Code | E34.8, Q52.7, Q56.4 |
| LOINC Code | 94891-6 |
| DHA Facility License & Laboratory Address | License No: 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians