Test Price
2,800 AED✅ Home Collection Available
PRKAR1A Gene Sequencing for Primary Pigmented Nodular Adrenocortical Disease Type 1 (Carney Complex) – Dubai, UAE | 2,800 AED
Executive Summary & Core Metrics
Clinical Performance & Service Highlights
- Diagnostic Accuracy: 99.9% sensitivity via ISO‑accredited next‑generation sequencing (NGS) with full coding region coverage and CNV analysis.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8:00 AM – 11:00 PM.
- Clinical Follow‑Up: Post‑test telephonic guidance with a Consultant Medical Geneticist for result interpretation and family cascade planning.
- Insurance Verification: Direct billing confirmation via WhatsApp +971 54 548 8731.
- Turnaround Time: 3–4 weeks from sample receipt to final clinical report.
- Regulatory Compliance: Fully compliant with Federal Decree‑Law No. 45 of 2021 (PDPL) and Federal Law No. 2 of 2019 on health ICT.
- Accreditation: DHA‑licensed laboratory (Facility No. 1143) with ISO‑certified quality management systems.
- Physician Oversight: Every report reviewed and signed by a DHA‑registered Consultant Medical Geneticist.
Test Overview & Methodology
This clinical-grade NGS assay interrogates the complete coding region and splice junctions of the PRKAR1A gene to detect pathogenic and likely pathogenic variants associated with primary pigmented nodular adrenocortical disease type 1 (PPNAD1) and Carney complex. Carney complex is a hereditary endocrine neoplasia syndrome characterized by spotty skin pigmentation, cardiac myxomas, and multiple endocrine tumours, with PPNAD1 representing the most common adrenal manifestation. The test employs hybrid‑capture library preparation followed by Illumina sequencing, with bioinformatic analysis covering single‑nucleotide variants, insertions/deletions, and copy‑number variations. All variants are classified according to ACMG/AMP 2015 guidelines and correlated with clinical phenotype.
| Feature | DNA Labs UAE – Full Gene NGS | Standard Targeted Panel |
|---|---|---|
| Methodology | Complete coding region NGS + CNV analysis (LC‑MS/MS‑enhanced bioinformatics pipeline) | Hotspot exon‑only sequencing; no CNV detection |
| Diagnostic Yield | >99.9% sensitivity for PPNAD1 and Carney complex; detects deep intronic and structural variants | ~85% sensitivity; misses CNVs and non‑coding pathogenic variants |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Report Quality | Full ACMG classification, clinical correlation note, and family screening recommendations | Raw variant list without interpretive commentary |
Physician Insight & Safety Protocols
“A PRKAR1A variant must always be evaluated within the full endocrine and cardiac context. A positive result is not a stand‑alone diagnosis — it is a powerful tool for initiating surveillance, counselling at‑risk relatives, and preventing adrenal crisis. I personally review every sequencing report to ensure the genetic findings are correlated with the patient’s hormonal profile, imaging data, and family history before a care plan is recommended.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Important Advisory – Medication Continuity
Do Not Interrupt Prescribed Therapy
Patients currently on adrenal‑directed therapies (e.g., metyrapone, ketoconazole, pasireotide) must not discontinue or alter their dosage without explicit consultation with their treating endocrinologist. Genetic testing is an adjunctive diagnostic tool and does not replace ongoing clinical management. Any change in medication should be guided by hormonal reassessment and clinical evaluation.
Exclusion Criteria & Emergency Red Flags
Contraindications and Urgent Referral Indicators
- Exclusion Criteria: Inability to provide informed consent; recent blood transfusion (<14 days) potentially compromising germline DNA analysis; acute psychiatric instability requiring immediate crisis intervention.
- Emergency Red Flags: Sudden severe hypertension, acute visual disturbance, or symptoms suggestive of adrenal crisis (persistent vomiting, confusion, hypotension, severe abdominal pain) – immediate emergency medical attention is required.
Patient FAQ & Clinical Guidance
1. Who should consider PRKAR1A genetic testing?
Individuals with clinical features suggestive of PPNAD or Carney complex — including Cushing’s syndrome, spotty skin or mucosal pigmentation (lentigines), cardiac myxomas, or a family history of endocrine tumours — are appropriate candidates. Testing confirms the genetic diagnosis, enables targeted surveillance, and guides cascade screening of first‑degree relatives.
2. How is the home collection procedure performed?
A certified phlebotomist visits your residence between 8:00 AM and 11:00 PM to collect a peripheral blood sample (two 6‑mL EDTA tubes). The specimen is transported to our Dubai Healthcare City laboratory in an ISO‑validated temperature‑controlled cold chain. Alternatively, a capillary blood spot on an FTA card can be used for paediatric patients.
3. What does a pathogenic PRKAR1A variant mean for my family?
A pathogenic or likely pathogenic variant confirms autosomal dominant inheritance. Each first‑degree relative (parent, sibling, child) carries a 50% risk of inheriting the variant. Cascade testing is strongly recommended to identify at‑individuals before the onset of adrenal or cardiac complications, enabling early intervention and improved outcomes.
4. Will my insurance cover the cost of this test?
Coverage depends on your individual insurance policy and the medical necessity documented by your referring physician. Our team performs direct billing verification via WhatsApp (+971 54 548 8731) and assists with prior‑authorization submissions. Please contact us with your policy details for a coverage assessment.
UAE Regulatory & Data Privacy Adherence
Legal Framework & Data Protection Commitments
All genetic testing services at DNA Labs UAE are conducted in full compliance with:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, processing, and storage of personal and genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – ensuring secure digital health information exchange.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability – defining standards of clinical care and patient consent for invasive and genetic procedures.
- Dubai Healthcare City Authority (DHCA) Regulations – mandatory licensing and quality assurance requirements.
Patient genetic information is encrypted, access‑controlled, and never shared with third parties without explicit written consent. All laboratory processes are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139). Minors require written guardian consent in accordance with UAE federal law.
Clinical & Logistical Metadata
| Test Name | PRKAR1A Gene Sequencing (Full Coding Region + CNV Analysis) |
| Price (AED) | 2,800 AED (includes VIP home phlebotomy, NGS analysis, and clinical report) |
| Turnaround Time | 3–4 weeks from sample receipt at laboratory |
| Sample Type / Matrix | Peripheral whole blood (2 × 6 mL EDTA tubes) or FTA card capillary blood spot |
| Methodology Used | Next‑Generation Sequencing (NGS) – hybrid‑capture library preparation, Illumina platform, bioinformatic CNV detection |
| ICD-10-CM Code | E24.8 (Other Cushing's syndrome), Q85.8 (Carney complex) |
| LOINC Code | 90261-5 (PRKAR1A gene full sequencing) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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