Test Price
2,800 AED✅ Home Collection Available
PRKAR1A Gene Sequencing for Acrodysostosis Type 1 (With/Without Hormone Resistance) – UAE Diagnostic Confirmation
Price: 2,800 AED | Turnaround Time: 21–28 Days | DHA Licensed Genetic Diagnostic Service
Executive Summary & Core Metrics
The PRKAR1A Gene Sequencing test utilises Next‑Generation Sequencing (NGS) to analyse the entire coding region, splice sites, and flanking intronic sequences of the PRKAR1A gene. It is the definitive tool to diagnose acrodysostosis type 1, especially in children presenting with short stature, brachydactyly, and resistance to multiple hormones. The test achieves a diagnostic accuracy exceeding 99.9% with validated 30x depth coverage across all targeted exons. Direct insurance billing support is available via WhatsApp at +971 54 548 8731. The comprehensive service includes VIP mobile phlebotomy, temperature‑controlled cold‑chain transport, and a post‑result teleconsultation with a Consultant Medical Geneticist.
Test Overview & Methodology
The PRKAR1A gene encodes the regulatory subunit R1A of protein kinase A (PKA), a critical mediator of cyclic AMP (cAMP) signalling. Pathogenic mutations in PRKAR1A disrupt PKA regulation, leading to acrodysostosis type 1 – a rare autosomal dominant disorder characterised by severe brachydactyly, short stature, facial dysostosis, and resistance to multiple hormones including parathyroid hormone (PTH), thyroid‑stimulating hormone (TSH), and gonadotropins. This NGS‑based test provides complete coverage of the entire coding region, all splice sites, and flanking intronic boundaries (±20 bp), ensuring detection of single‑nucleotide variants, small insertions/deletions, and splice‑site mutations with a validated minimum depth of 30x. All variants are classified according to ACMG/AMP 2015 guidelines and correlated with clinical phenotype by a licensed Consultant Medical Geneticist.
| Feature | Our PRKAR1A NGS Test | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision & Coverage | 100% of PRKAR1A exons ±20 bp; validated 30x depth; targeted ACMG‑classified report | Variable coverage across genome; may miss deep intronic or mosaic variants; requires secondary filtering |
| Turnaround Time | 21–28 Days (DHA‑accelerated clinical reporting) | 56–84 Days (standard exome analysis with confirmation) |
| Clinical Interpretation | Targeted ACMG‑guided report by Consultant Medical Geneticist, phenotype‑correlated | Broad interpretation requiring secondary bioinformatics filtering by phenotype |
| UAE Regulatory Compliance | Full DHA/MOHAP licensing; ISO 15189 readiness; local data governance | Often performed in overseas labs without DHA accreditation or local PDPL compliance |
Physician Insight & Safety Protocols
"Every child with unexplained growth delay and characteristic hand or foot anomalies deserves a precise molecular diagnosis through targeted gene sequencing. The PRKAR1A test resolves diagnostic ambiguity that often delays appropriate endocrine management for months. However, genomic findings must always be interpreted alongside a complete paediatric endocrinology assessment including dynamic hormone testing. I strongly advise families never to adjust or discontinue any prescribed hormone replacement therapy without direct specialist consultation."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Important Clinical Advisory
Do not discontinue, reduce, or alter any prescribed hormone replacement therapy, growth hormone, or other prescribed medications based on genetic test results without consulting the referring paediatric endocrinologist or clinical geneticist. The genetic findings confirm a molecular diagnosis but do not override established clinical management protocols. Always correlate results with biochemical hormone profiles.
Exclusion Criteria & Emergency Red Flags
- Active febrile illness requiring hospitalisation – postpone collection until fully recovered.
- Uncontrolled coagulopathy or severe thrombocytopenia – collection via FTA card may still proceed with additional precautions.
- Inability to provide informed consent by legal guardian – mandatory per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability for paediatric genetic testing.
- Emergency Red Flags – Seek immediate medical attention: Sudden severe bone pain, signs of acute adrenal insufficiency (vomiting, hypotension, altered consciousness, hypoglycaemia), or rapidly progressive growth failure with dehydration.
Patient FAQ & Clinical Guidance
1. What is the PRKAR1A gene test and how does it work?
This targeted Next‑Generation Sequencing (NGS) test reads the entire coding region, splice sites, and flanking intronic sequences of the PRKAR1A gene with 30x validated depth. It identifies pathogenic mutations causing acrodysostosis type 1 and clarifies hormone resistance risk. The test provides a definitive molecular diagnosis within 21–28 days from sample collection, with results classified according to ACMG/AMP 2015 guidelines and correlated to clinical phenotype by a Consultant Medical Geneticist.
2. Who is the ideal candidate for this test?
Children presenting with short stature, brachydactyly (shortened fingers and toes), facial dysostosis, and biochemical evidence of resistance to multiple hormones including PTH, TSH, and gonadotropins are the primary candidates. Paediatric endocrinologists or clinical geneticists typically order this test when clinical hand and foot anomalies are observed alongside elevated PTH despite normal calcium levels, with or without hypothyroidism. Adults with undiagnosed short stature and a history of hormone resistance since childhood may also benefit from confirmatory genetic testing.
3. How is the sample collected and what preparation is required?
A certified mobile phlebotomist draws a small venous blood sample (3–5 mL) into an EDTA tube under full sterile protocol. Alternatively, a painless finger‑prick capillary sample on an FTA card is available for paediatric patients. No fasting or special preparation is required. The sample is transported immediately in a validated temperature‑controlled cold‑chain directly to our ISO‑certified genomics facility using secure medical courier logistics. The service is available daily from 8 AM to 11 PM.
4. What does the post‑result process involve?
Following test completion, a comprehensive clinical report is issued within 21–28 days. The report includes all identified variants with ACMG classification, phenotype correlation, and clinical interpretation. A mandatory post‑test teleconsultation is scheduled with Lina Osama Zaki Quteineh, Consultant Medical Genetics, to explain the results, discuss implications for family members, and coordinate with the referring specialist regarding any necessary adjustments to hormone replacement therapy or additional surveillance.
UAE Regulatory & Data Privacy Adherence
This genetic diagnostic service operates in full compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) concerning the collection, processing, storage, and transfer of personal genomic data. All patient health information is protected under Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic health records and encrypted data transmission. Clinical testing safety, patient consent for genomic analysis, and medical liability standards adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. Laboratory operations are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139). All genetic counselling and result reporting follow DHA and MOHAP mandates. Genomic data is stored within UAE borders on secure servers and never transferred offshore without explicit written patient consent.
Clinical & Logistical Metadata
| Test Name | PRKAR1A Gene Sequencing (Acrodysostosis Type 1 Panel) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Days (3–4 Weeks) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or FTA Card Capillary Sample – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Targeted Next‑Generation Sequencing (NGS) – Full coding exons, splice sites, flanking intronic regions (±20 bp); validated 30x depth; ACMG/AMP 2015 variant classification |
| ICD-10-CM Code | Q87.1 (Congenital malformation syndromes predominantly affecting facial appearance – Acrodysostosis) – also E20.0 (Pseudohypoparathyroidism) for associated hormone resistance |
| LOINC Code | 93931-6 (PRKAR1A gene targeted mutation analysis in Blood or Tissue by NGS) |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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