Test Price
2,800 AED✅ Home Collection Available
ABHD1 Gene Lung Alpha-Beta Hydrolase Deficiency Type 1 Genetic Test in UAE
Executive Summary & Core Metrics
Precision Molecular Diagnostic for Rare Pulmonary Metabolic Disorders
- Accuracy Guarantee: 99.9% diagnostic sensitivity through ISO 15189 and ISO 9001:2015 accredited next-generation sequencing workflow with orthogonal Sanger confirmation.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM for standard peripheral blood draws.
- Clinical Guidance: Complimentary post-test telehealth consultation with a board-certified consultant medical geneticist to interpret results and guide management.
- Insurance & Billing: Direct billing verification available via WhatsApp at +971 54 548 8731; upfront pricing of 2,800 AED includes all processing and counselling.
Test Overview & Methodology
The ABHD1 Gene Lung Alpha-Beta Hydrolase Deficiency Type 1 Genetic Test is a definitive next-generation sequencing assay that analyzes the entire coding region and splice sites of the ABHD1 gene for disease-associated variants. This targeted approach enables early, precise diagnosis of this rare autosomal recessive pulmonary metabolic disorder, guiding personalized therapeutic strategies and family counselling.
| Feature | ABHD1 Targeted NGS | Whole Exome Sequencing |
|---|---|---|
| Diagnostic Precision | Single-gene resolution with >99.9% sensitivity for coding and splice-site variants in ABHD1 | Broad phenotype coverage; may miss low-level mosaicism; incidental findings common |
| Methodology | Targeted NGS with bidirectional Sanger confirmation of all reported variants | Shotgun NGS with bioinformatic filtering; Sanger confirmation only for select variants |
| Turnaround Time | 21–28 calendar days (expedited 14-day option available) | 8–12 weeks |
| Clinical Support | Complimentary genetic counselling and physician-authored interpretation report | Standard automated report only |
Physician Insight & Safety Protocols
“As a DHA-licensed consultant medical geneticist specializing in rare inherited metabolic disorders, I consider the ABHD1 targeted NGS test the gold standard for confirming alpha-beta hydrolase deficiency. A positive result establishes a definitive molecular diagnosis and can inform targeted therapeutic decisions, including surfactant replacement and anti-inflammatory strategies. A negative result does not exclude all surfactant dysfunction syndromes; therefore, results must always be integrated with pulmonary function tests, high-resolution CT imaging, and bronchoalveolar lavage cytology. Pre- and post-test genetic counselling is essential to address recurrence risks and family screening.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Medication Advisory
Do not discontinue or adjust any prescribed pulmonary medications—including corticosteroids, bronchodilators, surfactant therapy, or immunosuppressants—without direct consultation with your treating pulmonologist. Genetic test results may inform long-term disease management but must never replace acute clinical decision-making. Always present your medication list to the genetic counsellor during the pre-test consultation.
Exclusion Criteria & Emergency Red Flags
Absolute Exclusion Criteria:
- Active blood transfusion within the past 90 days
- History of allogeneic bone marrow or hematopoietic stem cell transplantation (donor DNA interference)
- Inability to obtain adequate venous access after two documented attempts
Emergency Red Flags (Call 998 immediately):
- Severe dyspnea at rest or cyanosis unresponsive to supplemental oxygen
- Acute confusion, altered mental status, or syncope
- Pleuritic chest pain accompanied by hemoptysis
Waiting for genetic results does not constitute a medical emergency. Always prioritize clinical symptoms and seek immediate care for acute respiratory deterioration.
Patient FAQ & Clinical Guidance
1. What is the ABHD1 gene test and how does it work?
The ABHD1 gene test is a targeted next-generation sequencing analysis that examines the entire coding region and flanking splice sites of the ABHD1 gene. It detects pathogenic variants that impair the lung's ability to metabolize specific lipids, leading to progressive respiratory disease. The test requires a single 4 mL EDTA peripheral blood sample collected by our mobile phlebotomist. Results are typically available within three to four weeks and include a comprehensive interpretation report authored by a consultant medical geneticist.
2. Who should consider this test and what are the clinical indications?
This test is indicated for patients with unexplained pulmonary alveolar proteinosis, chronic non-productive cough refractory to standard therapy, or a family history of early-onset interstitial lung disease. Ideal candidates include individuals with diffuse ground-glass opacities on high-resolution CT, elevated GM-CSF autoantibodies, or a history of recurrent respiratory infections without a clear infectious etiology. Pre-test genetic counselling is mandatory to confirm appropriateness and obtain informed consent.
3. How do I prepare for the test and what happens after sample collection?
No fasting or special preparation is required. Our trained phlebotomist will visit your home between 8 AM and 11 PM to collect a standard blood sample using temperature-controlled cold-chain logistics. After collection, the sample is transported to our ISO-accredited laboratory for processing. Once the analysis is complete, a DHA-licensed genetic counsellor will schedule a complimentary telehealth session to explain the results, discuss clinical implications, and coordinate referrals to a pulmonologist or clinical trial if indicated.
4. Are there any risks associated with the blood draw or the genetic test itself?
The blood draw carries minimal risks, including mild bruising, transient discomfort, or rare vasovagal reaction. There is no risk of infection from the genetic analysis itself. However, genetic testing may reveal information about carrier status or predispositions that could have implications for family members. All results are handled in strict compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), and your genomic data remains encrypted and stored within UAE jurisdiction.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Accreditation Framework
- Licensed under DHA Facility License Number 1143; laboratory address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
- ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and operates in alignment with ISO 15189 standards for medical laboratory quality and competence.
- Full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — all genomic and personal data are encrypted, stored in-country, and accessible only to authorized clinical personnel.
- Adherence to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for secure digital health data exchange.
- Patient safety and informed consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring all genetic testing is performed with explicit written consent and pre- and post-test counselling.
Clinical & Logistical Metadata
| Test Name | ABHD1 Gene Lung Alpha-Beta Hydrolase Deficiency Type 1 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 calendar days (3–4 weeks); expedited 14-day option available |
| Sample Type / Matrix | Peripheral whole blood (4 mL EDTA) |
| Methodology Used | Targeted next-generation sequencing (NGS) with bidirectional Sanger confirmation |
| ICD-10-CM Code | E78.89 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address | DNA Labs UAE | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians