Test Price
2,800 AED✅ Home Collection Available
CRYAB Gene (Desmin-Related Myopathy) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين CRYAB للاعتلال العضلي المرتبط بالديزمين بتقنية التسلسل الجيني من الجيل التالي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Clinical Overview: CRYAB Gene & Desmin-Related Myopathy
The CRYAB gene encodes alpha-B crystallin, a small heat-shock protein critical for maintaining cytoskeletal integrity in cardiac and skeletal muscle fibers. Pathogenic variants in CRYAB cause desmin-related myofibrillar myopathy—a progressive neuromuscular disorder characterized by protein aggregation, muscle weakness, cardiomyopathy, and cataract formation. This NGS-based Genetic Test comprehensively sequences the full coding region of the CRYAB gene to identify single nucleotide variants (SNVs), insertions/deletions (indels), and copy number variations (CNVs) with clinical-grade accuracy. Early molecular diagnosis enables targeted surveillance for cardiac involvement, informed family planning, and enrollment in emerging gene-targeted therapeutic trials. (يُعد هذا الاختبار الجيني أداة تشخيصية أساسية لتأكيد الاعتلال العضلي الليفي المرتبط بالديزمين وتوجيه الإدارة السريرية للمرضى وعائلاتهم.)
| Feature | Our Test (NGS – CRYAB Full Gene) | Closest Alternative (Sanger Sequencing / Targeted Panel) |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity; Orthogonal Sanger Confirmation of All Variants | ~98% for targeted regions; Limited CNV detection capability |
| Methodology | Next Generation Sequencing (NGS) + Bioinformatic Analysis + Sanger Validation | Sanger Sequencing (Single-Gene) or Limited Multi-Gene Panel |
| Speed (TAT) | 3 to 4 Weeks (Expedited Reporting Available) | 4 to 8 Weeks (Sanger); 6–12 Weeks (External Panel Send-Out) |
| Sample Flexibility | Whole Blood, Extracted DNA, or One Drop Blood on FTA Card | Typically Requires Whole Blood or Extracted DNA Only |
| Clinical Support | Genetic Counselling + Telephonic Post-Test Clinical Guidance Included | Varies; Often Limited to Written Report Only |
Physician Insight & Safety Protocol
Dr. Prabhakar Reddy, MD — Consultant Neurologist
DHA License No. 61713011 | Specialist in Neuromuscular Genetics
"As a clinician managing patients with suspected desmin-related myopathy, I cannot overstate the importance of definitive genetic diagnosis. A positive CRYAB pathogenic variant not only confirms the diagnosis but also directs us toward essential cardiac surveillance—since alpha-B crystallin dysfunction frequently manifests as hypertrophic or restrictive cardiomyopathy before overt skeletal muscle weakness appears. I strongly recommend that all patients undergoing this test participate in a pre-test genetic counselling session to fully understand the implications for themselves and their at-risk family members. Please remember: a negative result does not exclude all forms of myofibrillar myopathy, and clinical correlation with electromyography, muscle biopsy, and cardiac imaging remains paramount."
Clinical Notice: Do not discontinue any prescribed medication, including corticosteroids, immunosuppressants, cardiac medications, or physical therapy regimens, without consulting your treating physician. This genetic test is a diagnostic adjunct and does not replace ongoing clinical management.
Exclusion Criteria & Emergency Red Flags — Read Carefully
- Exclusion: This test is not suitable for individuals with an active hematologic malignancy or recent allogeneic bone marrow transplant, as donor-derived DNA may confound germline variant interpretation.
- Exclusion: Patients who have received a blood transfusion within the preceding 21 days must defer sample collection to avoid donor DNA contamination.
- Exclusion: This NGS assay is optimized for germline CRYAB variant detection. It is not designed to detect somatic mosaicism below 10% variant allele fraction or deep intronic variants beyond canonical splice sites.
- Emergency Red Flag: If you or the patient experience acute-onset chest pain, palpitations, syncope, or severe shortness of breath—symptoms potentially indicative of CRYAB-associated cardiomyopathy—seek emergency medical attention immediately. Do not wait for genetic test results.
- Emergency Red Flag: Rapidly progressive muscle weakness affecting respiratory muscles (dyspnea at rest, orthopnea) warrants urgent neurological evaluation, irrespective of genetic testing status.
Pre-Test Requirements & Genetic Counselling
A comprehensive Genetic Counselling session is mandatory prior to sample collection. This session includes construction of a detailed pedigree chart documenting all family members affected by or suspected of having CRYAB-related myofibrillar myopathy, desmin-related myopathy, or unexplained cardiomyopathy. The referring clinician must provide a complete clinical history including age of symptom onset, pattern of muscle involvement, cardiac evaluation results (ECG, echocardiogram), electromyography (EMG) findings, and any prior muscle biopsy reports. Fasting is not required for blood collection. If submitting DNA on an FTA card, ensure the card is fully dried at room temperature for a minimum of 60 minutes before sealing in the provided biohazard envelope.
Patient FAQ & Clinical Guidance
1. What is the CRYAB gene and how does a mutation cause desmin-related myopathy?
The CRYAB gene provides instructions for producing alpha-B crystallin, a chaperone protein that prevents abnormal clumping of desmin and other structural proteins within muscle cells. When a pathogenic mutation disrupts this protective function, desmin filaments aggregate into toxic protein deposits that progressively damage both skeletal and cardiac muscle fibers, leading to the characteristic pattern of slowly progressive limb weakness, cardiomyopathy, and early-onset cataracts seen in desmin-related myofibrillar myopathy. The age of onset and severity vary significantly depending on the specific mutation, making genetic confirmation essential for accurate prognosis and surveillance planning.
يوفر جين CRYAB تعليمات لإنتاج بروتين ألفا-بي كريستالين، وهو بروتين مرافق يمنع التكتل غير الطبيعي لبروتين الديزمين داخل الخلايا العضلية. تؤدي الطفرات المسببة للأمراض إلى تراكم تجمعات بروتينية سامة تتلف الألياف العضلية الهيكلية والقلبية.
2. How is the Genetic Test performed and what sample types are accepted?
The is performed by extracting genomic DNA from your submitted sample, enriching the entire coding region of the CRYAB gene, and sequencing it using Next Generation Sequencing technology at high coverage depth. We accept three sample types for your convenience: a standard venous blood draw (collected in an EDTA tube), previously extracted and purified DNA (minimum 1 µg at ≥50 ng/µL), or a single drop of blood applied to an FTA card which stabilizes DNA at room temperature. All variants identified by NGS are confirmed by Sanger sequencing before reporting. Our ISO-certified home collection team can perform the blood draw at your residence, office, or hotel across all seven emirates between 8 AM and 11 PM.
3. What do my results mean and how long does it take to receive them?
Your results will be reported as Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, or Benign, following the ACMG/AMP 2015 variant classification guidelines with 2026 updates. A Pathogenic or Likely Pathogenic finding confirms the molecular diagnosis of CRYAB-related desmin myopathy and should prompt immediate cardiac evaluation even in asymptomatic individuals. A VUS result means insufficient evidence exists to classify the variant and clinical correlation is essential—this does not rule out the condition. The standard turnaround time is 3 to 4 weeks from sample receipt. Upon report release, you will receive complimentary telephonic clinical guidance from our genetic counselling team to help interpret findings in the context of your personal and family history.
يتم تصنيف النتائج وفقاً لإرشادات ACMG/AMP المحدثة لعام 2026، وتشمل الفئات: ممرض، محتمل الإمراض، متغير غير مؤكد الأهمية، محتمل الحميدة، وحميد. النتيجة الإيجابية تؤكد التشخيص الجزيئي وتستدعي تقييماً قلبياً فورياً.
Fully Compliant with Federal Decree-Law No. 41 of 2024 (Art. 87) | UAE CDS Law 2026 (Minors Genetic Testing Provisions) | UAE PDPL (Federal Decree-Law No. 45 of 2021 on Personal Data Protection) | All testing performed in DHA-licensed, ISO-certified facility.
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