Test Price
2,800 AED✅ Home Collection Available
CRYAB Gene Myopathy (Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin‑Related) Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Sensitivity: 99.9% via ISO 9001:2015 accredited next-generation sequencing.
- Specimen Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM to 11 PM.
- Post-Test Support: Telephonic clinical guidance by a DHA-licensed Consultant Medical Geneticist included in the fee.
- Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731.
This single-gene NGS test analyzes the full coding region and splice junctions of the CRYAB gene to detect pathogenic variants responsible for myofibrillar myopathy and fatal infantile hypertrophic cardiomyopathy. Results are interpreted against ACMG-AMP standards and delivered with a secure PDF report and a tele-counseling session. Price includes pre-test genetic counselling, sample collection, sequencing, and post-test physician consultation.
Test Overview & Methodology
The CRYAB gene encodes alpha-B crystallin, a small heat-shock protein essential for sarcomere integrity in cardiac and skeletal muscle. Pathogenic mutations cause protein aggregation, leading to progressive myofibrillar myopathy and often fatal infantile hypertrophic cardiomyopathy. This targeted NGS assay achieves 100% coverage of all coding exons and flanking splice sites, with a minimum depth of 50x. Variant classification follows ACMG-AMP guidelines, and all clinically significant findings are confirmed by Sanger sequencing.
| Parameter | CRYAB NGS Single-Gene Test | Standard Neuromuscular Panel (50+ genes) | Whole Exome Sequencing |
|---|---|---|---|
| Analytical Sensitivity | 99.9% | 98–99% | 95–97% |
| Target Coverage | 100% coding region + splice junctions | >95% for included genes | ~95% exome |
| Turnaround Time | 3–4 weeks | 4–6 weeks | 6–8 weeks |
| Clinical Relevance for CRYAB | Gold standard – full exon & splice site analysis | May miss deep intronic or specific variants | Often requires confirmatory testing |
| Cost (AED) | 2,800 | 4,500–6,000 | 7,000–12,000 |
Physician Insight & Safety Protocols
“A pathogenic CRYAB variant establishes a definitive genetic diagnosis and directs surveillance for cardiomyopathy in affected infants, while a negative result does not exclude other neuromuscular etiologies. Comprehensive pedigree analysis and clinical correlation remain indispensable for accurate risk assessment and family counselling.”
Advisory – Medication Continuation
Do not discontinue any prescribed cardiac, anticonvulsant, or respiratory medication prior to sample collection unless explicitly directed by your treating physician. Abrupt withdrawal may precipitate clinical deterioration.
Exclusion Criteria & Emergency Red Flags
Home Collection Exclusions:
- Patient experiencing active seizures or status epilepticus.
- Unstable angina, acute myocardial infarction within the prior 7 days.
- Infant with decompensated heart failure: tachypnea, poor feeding, cyanosis.
Emergency Department Referral Criteria:
- Acute loss of ambulation or precipitous muscle weakness.
- Dysphagia, choking episodes, or stridor.
- Syncope, palpitations, or chest pain at rest.
- Infantile lethargy, poor suck reflex, or mottled skin.
Patient FAQ & Clinical Guidance
1. What does the CRYAB genetic test detect and how is it performed?
This NGS analysis detects single-nucleotide variants and small insertions/deletions across all coding exons and splice junctions of the CRYAB gene with 99.9% analytical sensitivity. The assay uses a whole-blood, extracted DNA, or FTA card specimen. Bioinformatics pipelines align reads to GRCh38 and classify variants per ACMG-AMP criteria. All pathogenic, likely pathogenic, and variants of uncertain significance are reported with clinical interpretation by a DHA-licensed Consultant Medical Geneticist.
2. Is genetic counseling required before testing?
Yes, a mandatory pre-test genetic counseling session with a certified geneticist is included. During this session, the consultant reviews the autosomal dominant inheritance pattern, constructs a three-generation pedigree, discusses the risk of de novo mutations, and explores reproductive options including prenatal and preimplantation genetic diagnosis. Informed consent is obtained before sample collection.
3. How long until I receive results and what support is provided?
Results are delivered within 3–4 weeks from sample receipt. The final report is issued as a secure PDF with variant classification, zygosity, and clinical interpretation. A tele-counseling session with the Consultant Medical Geneticist is scheduled to explain the findings, discuss prognostic implications, and coordinate referrals to pediatric cardiology, neurology, or genetic counselling services as indicated. Follow-up arrangements are managed via WhatsApp +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with the following UAE federal legal frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, processing, and storage of genetic and health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating telehealth, electronic health records, and digital clinical communications.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – establishing the standard of care and patient safety obligations during diagnostic procedures and sample collection.
All genetic data is encrypted and stored on UAE-based servers. Results are shared only with the requesting physician and the patient through a secure portal. No third-party access is permitted without explicit written consent.
Clinical & Logistical Metadata
| Test Name | CRYAB Gene Myopathy (Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin‑Related) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted genomic DNA, or dried blood spot (FTA card) |
| Methodology Used | Next-generation sequencing (NGS) of coding exons and splice junctions; Sanger confirmation of clinically significant variants |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 94041-1 |
| DHA Facility License & Laboratory Address | License #1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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