Test Price
2,800 AED✅ Home Collection Available
CRYAB Gene (Desmin-Related Myopathy) Genetic Test in UAE – 2,800 AED – DHA Licensed
Executive Summary & Core Metrics
Test Overview & Methodology
The CRYAB gene encodes alpha-B crystallin, a small heat-shock protein that maintains cytoskeletal integrity in cardiac and skeletal muscle fibres. Pathogenic variants in CRYAB cause desmin-related myofibrillar myopathy — a progressive neuromuscular disorder marked by protein aggregation, muscle weakness, cardiomyopathy, and early-onset cataracts. This NGS-based genetic test comprehensively sequences the full coding region of the CRYAB gene to identify single nucleotide variants, insertions and deletions, and copy number variants with clinical-grade accuracy. Early molecular diagnosis enables targeted cardiac surveillance, informed family planning, and access to emerging gene-directed therapies.
| Feature | Our Test (NGS – CRYAB Full Gene) | Closest Alternative (Sanger / Targeted Panel) |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity; Orthogonal Sanger Confirmation of All Variants | ~98% for Targeted Regions; Limited CNV Detection |
| Methodology | Next-Generation Sequencing + Bioinformatic Analysis + Sanger Validation | Sanger Sequencing (Single Gene) or Restricted Multi-Gene Panel |
| Turnaround Time | 21–28 Days (Expedited Reporting Available) | 28–56 Days (Sanger); 42–84 Days (External Panel Send-Out) |
| Sample Flexibility | Whole Blood, Extracted DNA, or One-Drop Blood on FTA Card | Typically Whole Blood or Extracted DNA Only |
| Clinical Support | Genetic Counselling + Telephonic Post-Test Guidance Included | Varies; Often Limited to Written Report Only |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh — Consultant Medical Genetics
DHA Registration ID: 9294403 | Specialist in Neuromuscular Genetics
"In my practice managing families with desmin-related myopathy, a confirmed CRYAB pathogenic variant fundamentally changes the surveillance trajectory. Because alpha-B crystallin dysfunction often presents with hypertrophic or restrictive cardiomyopathy before overt skeletal muscle weakness appears, genetic confirmation directs us toward early cardiac screening, including echocardiography and ECG, even in asymptomatic carriers. I strongly advise all patients to complete a pre-test genetic counselling session that includes a three-generation pedigree analysis. A negative result does not exclude all forms of myofibrillar myopathy; clinical correlation with electromyography, muscle biopsy, and cardiac imaging remains indispensable."
Medication & Clinical Advisory
Clinical Notice: Do not discontinue any prescribed medication — including corticosteroids, immunosuppressants, cardiac therapies, or physical rehabilitation — without direct consultation with your treating physician. This genetic test serves as a diagnostic adjunct and does not replace ongoing clinical management or emergency care.
Exclusion Criteria & Emergency Red Flags
- Exclusion: This test is not indicated for individuals with an active haematologic malignancy or a history of allogeneic bone marrow transplantation, as donor-derived DNA may confound germline interpretation.
- Exclusion: Patients who have received a blood transfusion within the preceding 21 days must defer sample collection to eliminate the risk of donor DNA contamination.
- Exclusion: This NGS assay is optimised for germline CRYAB variant detection. It is not validated to detect somatic mosaicism below 10% variant allele fraction or deep intronic variants beyond canonical splice junctions.
- Emergency Red Flag: Acute-onset chest pain, palpitations, syncope, or severe dyspnoea may signal CRYAB-associated cardiomyopathy. Seek emergency medical attention immediately without waiting for genetic results.
- Emergency Red Flag: Rapidly progressive muscle weakness affecting respiratory muscles — evidenced by dyspnoea at rest or orthopnoea — warrants urgent neurological evaluation independent of genetic testing status.
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 inside 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 fibres. This leads to the characteristic pattern of slowly progressive limb weakness, cardiomyopathy, and early-onset cataracts seen in desmin-related myofibrillar myopathy. Age of onset and severity vary significantly depending on the specific mutation, making genetic confirmation essential for accurate prognosis and surveillance planning.
2. How is the genetic test performed and what sample types are accepted?
The test 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: a standard venous blood draw 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 that stabilises 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 via VIP Mobile Phlebotomy with temperature-controlled cold-chain logistics.
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 current 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 21 to 28 days 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.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA Facility License No. 1143) and adheres to the highest standards of data protection and patient confidentiality. All genetic data is processed, stored, and transmitted in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Our facility is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), ensuring rigorous quality management across all laboratory processes. No genetic information is disclosed to third parties without your explicit written consent, and all samples are anonymised during analysis to protect your identity.
Clinical & Logistical Metadata
| Test Name | CRYAB Gene (Desmin-Related Myopathy) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Days (3–4 Weeks) |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA (≥1 µg at ≥50 ng/µL), or FTA Card Blood Spot — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily (8 AM – 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) with Orthogonal Sanger Confirmation |
| ICD-10-CM Code | G71.11 |
| LOINC Code | 82104-7 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians