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CRYAB Gene Myopathy, desmin related, associated with mutation in the CRYAB gene NGS Genetic Test

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CRYAB Gene Myopathy, desmin related, associated with mutation in the CRYAB gene NGS Genetic Test

Short Name: CRYAB Gene NGS Test

Also known as: CRYAB Mutation Analysis, Alpha B-Crystallin Gene Test, Desmin-Related Myopathy Genetic Test, CRYAB Gene Sequencing, CRYAB NGS Panel

CRYAB Gene Myopathy, desmin related, associated with mutation in the CRYAB gene NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation Sequencing, Bioinformatics Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)UnisexAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the CRYAB Gene Myopathy NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the CRYAB gene that cause desmin-related myopathy. This test enables precise molecular diagnosis, confirms clinical suspicion, differentiates CRYAB-related myopathy from other neuromuscular disorders, facilitates family screening and genetic counselling, and guides clinical management including cardiac and respiratory monitoring strategies.

Test Code
1759
CPT Code
81479
ICD Code
G71.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation Sequencing, Bioinformatics Analysis
Step 1

Sample Collection

Genetic counselling session is recommended prior to sample collection. Patient should provide detailed clinical history including onset, progression of symptoms, and family pedigree. No fasting is required. Inform the laboratory of any recent blood transfusions.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA tube under standard aseptic conditions. Alternatively, a blood drop on an FTA card may be used. The procedure takes approximately 5-10 minutes.

Step 3

Report Delivery

Apply pressure to the venipuncture site for 3-5 minutes. No special post-collection restrictions. The sample is transported under ambient temperature to the laboratory for DNA extraction and NGS analysis.

Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:Schedule a pre-test genetic counselling appointment. Provide detailed clinical history, family pedigree, and any previous muscle biopsy reports. No dietary restrictions or fasting is required prior to blood collection.
2
During the Test:A simple blood draw of 3-5 mL will be performed. The process is minimally invasive and typically completed within 10 minutes. The sample is processed in the molecular genetics laboratory using Next-Generation Sequencing technology.
3
After the Test:Apply gentle pressure at the collection site. Reports are available within 3 to 4 weeks and can be accessed via online portal, email, or WhatsApp. A post-test genetic counselling session is recommended to discuss results and implications.

About This Test

Who Should Get This Test

The purpose of the CRYAB Gene Myopathy NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the CRYAB gene that cause desmin-related myopathy. This test enables precise molecular diagnosis, confirms clinical suspicion, differentiates CRYAB-related myopathy from other neuromuscular disorders, facilitates family screening and genetic counselling, and guides clinical management including cardiac and respiratory monitoring strategies.

How to Prepare

  • No fasting required prior to sample collection
  • Bring a valid government-issued photo ID and doctor's prescription
  • Provide complete family history and pedigree chart if available
  • Avoid blood collection within 4 weeks of a blood transfusion
  • Sample can be collected at home or at any DNA Labs India collection center
  • Ensure EDTA tube is gently inverted 8-10 times immediately after collection

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Desmin-related myopathy caused by CRYAB gene mutations should be considered in patients presenting with progressive proximal muscle weakness, respiratory compromise, and cardiomyopathy. Genetic confirmation through NGS allows for precise diagnosis, targeted family screening, and appropriate multidisciplinary management including cardiac monitoring and respiratory support."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL whole blood
ContainerEDTA (Lavender Top) vacutainer or FTA Card
Collection MethodVenipuncture

Sample Stability

Whole blood (EDTA)
Extracted DNA
FTA Card (dried blood spot)
Sample Rejection Criteria:
  • Sample collected in heparin anticoagulant (heparin inhibits PCR/NGS reactions)
  • Clotted or hemolyzed blood sample
  • Sample received without proper labeling or patient identification
  • Insufficient sample volume
  • Sample contaminated or leaked during transport

Understanding Your Results

The CRYAB gene encodes alpha-crystallin B (HSPB5), a small heat shock protein essential for maintaining muscle cell integrity. Pathogenic variants in this gene cause desmin-related myopathy characterized by abnormal protein aggregation within muscle fibers. Results should be interpreted by a qualified clinical geneticist or neurologist in conjunction with clinical presentation, family history, and muscle biopsy findings.
📊

Confirms molecular diagnosis of CRYAB gene-related desmin-related myopathy. Genetic counselling and family screening are recommended. Cardiac evaluation and respiratory monitoring should be initiated.

📊

Strong evidence supports pathogenicity. Clinical correlation and family segregation analysis recommended. Follow-up genetic counselling advised.

📊

The clinical significance of the variant cannot be determined at this time. Additional family studies, functional studies, and clinical correlation are recommended. Reanalysis may be warranted as new data emerge.

📊

No disease-causing mutation was identified in the CRYAB gene. This does not exclude other genetic or non-genetic causes of myopathy. Consider testing for related genes (DES, LMNA, MYOT, FLNC) and further clinical evaluation.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or a family member experience progressive muscle weakness, difficulty walking or standing, unexplained fatigue, respiratory difficulty, swallowing problems, or abnormal spinal curvature. Patients with a confirmed CRYAB mutation should undergo regular cardiac and respiratory monitoring as part of comprehensive management.

Limitations

  • ⚠This test does not detect large copy number variations (deletions/duplications) unless specifically designed for CNV analysis
  • ⚠Variants in deep intronic or regulatory regions outside the targeted panel may not be detected
  • ⚠A negative result does not completely exclude hereditary myopathy as other genes may be involved
  • ⚠Some detected variants may be classified as Variants of Uncertain Significance (VUS) requiring further evaluation
  • ⚠Results should always be interpreted in the context of clinical findings and family history

Risks & Considerations

  • ●Minimal risk associated with blood collection – minor bruising or discomfort at the venipuncture site
  • ●Psychological impact of genetic diagnosis – genetic counselling recommended before and after testing
  • ●Potential for identification of Variants of Uncertain Significance (VUS) which may cause anxiety
  • ●Implications for family members who may carry the same mutation – cascade testing recommended

Interfering Factors

  • ●Degraded or low-quality DNA may affect sequencing accuracy
  • ●Recent blood transfusion within 4 weeks may affect results
  • ●Contamination during sample collection or processing
  • ●Presence of somatic mosaicism may lead to variants below detection threshold

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Frequently Asked Questions

What is CRYAB Gene Myopathy?
CRYAB Gene Myopathy is a rare inherited neuromuscular disorder caused by mutations in the CRYAB gene, which encodes alpha-crystallin B protein. This protein is essential for maintaining muscle cell structure. Mutations lead to abnormal protein aggregation within muscle fibers, causing progressive muscle weakness and degeneration. It is classified under desmin-related myopathies (myofibrillar myopathies).
What are the symptoms of CRYAB Gene Myopathy?
Common symptoms include progressive muscle weakness in the limbs and trunk, difficulty walking and standing, chronic fatigue, difficulty swallowing (dysphagia), breathing difficulties (respiratory insufficiency), abnormal curvature of the spine (scoliosis), and in some cases, cardiomyopathy. The severity and age of onset can vary significantly between affected individuals.
How is CRYAB Gene Myopathy diagnosed?
Diagnosis involves a combination of clinical evaluation by a neurologist, muscle biopsy showing characteristic desmin-positive protein aggregates, electromyography (EMG), and definitive genetic testing using Next-Generation Sequencing (NGS) to identify mutations in the CRYAB gene. NGS is considered the gold standard for molecular confirmation.
What is the NGS Genetic Test for CRYAB Gene Myopathy?
The NGS (Next-Generation Sequencing) Genetic Test for CRYAB Gene Myopathy is an advanced molecular diagnostic test that sequences the CRYAB gene to identify disease-causing mutations. It is a highly sensitive and specific method capable of detecting point mutations, small insertions, and deletions that may be missed by conventional sequencing methods.
What sample is required for the CRYAB Gene NGS Test?
The test requires a blood sample (3-5 mL in an EDTA tube), extracted DNA, or one drop of blood on an FTA card. No fasting is required prior to sample collection. The sample can be collected at home or at any DNA Labs India collection center across India.
What is the cost of the CRYAB Gene NGS Genetic Test in India?
The cost of the CRYAB Gene Myopathy NGS Genetic Test at DNA Labs India is Rs 20,000. This includes NGS sequencing, bioinformatics analysis, a genetic counselling session, free home sample collection across India, and digital report delivery.
How long does it take to get the results of the CRYAB Gene NGS Test?
Results are typically available within 3 to 4 weeks from the date the sample is received at the laboratory. Reports are delivered through the online portal, email, or WhatsApp for your convenience.
Is the CRYAB Gene Myopathy test available across India?
Yes, DNA Labs India offers the CRYAB Gene NGS Genetic Test with free home sample collection in over 400 cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, Jaipur, and many more. Walk-in collection is also available at authorized centers.
What is the inheritance pattern of CRYAB Gene Myopathy?
CRYAB Gene Myopathy can follow both autosomal dominant and autosomal recessive inheritance patterns, depending on the specific mutation. In autosomal dominant cases, a single copy of the mutated gene from one parent is sufficient to cause disease. Genetic counselling is essential for understanding recurrence risks within families.
Is CRYAB Gene Myopathy curable?
Currently, there is no cure for CRYAB Gene Myopathy. Management is supportive and may include physiotherapy, occupational therapy, respiratory support, cardiac monitoring, nutritional support for swallowing difficulties, and orthopaedic interventions. Early diagnosis through genetic testing enables timely management and family planning.
Should family members of an affected person be tested?
Yes, cascade genetic testing of at-risk family members is strongly recommended once a pathogenic CRYAB mutation is identified in the proband. This enables early detection, proactive monitoring for cardiac and respiratory complications, and informed reproductive decision-making. A pre-test genetic counselling session is advised.
What does a negative result on the CRYAB Gene NGS Test mean?
A negative result means no pathogenic or likely pathogenic variant was detected in the CRYAB gene. This does not completely exclude a genetic myopathy, as mutations in other genes (such as DES, MYOT, FLNC, LMNA) can cause similar phenotypes. Your physician may recommend additional genetic testing or further clinical evaluation.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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