CRYAB Gene Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related NGS Genetic Test
Short Name: CRYAB NGS Genetic Test
Also known as: Alpha-B crystallin-related myopathy, Myofibrillar myopathy with fatal infantile hypertrophy, CRYAB-related myopathy
CRYAB Gene Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory. Additional time may be needed if variant confirmation or family segregation studies are required.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to identify disease-causing sequence variants in the CRYAB gene in individuals with clinical features suggestive of CRYAB-related myopathy, myofibrillar myopathy, or fatal infantile hypertrophy. It also supports genetic counselling, family risk assessment, and reproductive planning when combined with clinical findings and pedigree analysis.
- Test Code
- 4388
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory. Additional time may be needed if variant confirmation or family segregation studies are required.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
No fasting is required. A genetic counselling session is recommended before testing to document the clinical history, draw a pedigree chart, explain the limitations of NGS, and obtain informed consent.
Method: Peripheral venipuncture or FTA card blood spot
Laboratory Analysis
A blood sample is collected by venipuncture into an EDTA tube, or one drop of blood is placed on an FTA card. The sample is labeled and sent to the laboratory for DNA extraction and NGS analysis.
Report Delivery
No special precautions are needed after sample collection. The sample should be transported to the laboratory at ambient temperature, avoiding direct sunlight or extreme heat. The report will be released in 3 to 4 weeks.
Timeline: Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory. Additional time may be needed if variant confirmation or family segregation studies are required.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify disease-causing sequence variants in the CRYAB gene in individuals with clinical features suggestive of CRYAB-related myopathy, myofibrillar myopathy, or fatal infantile hypertrophy. It also supports genetic counselling, family risk assessment, and reproductive planning when combined with clinical findings and pedigree analysis.
How to Prepare
- Bring the clinical history and genetic counselling referral document if available
- Ensure the sample is labeled with the patient's name and unique identifier
- For FTA card, apply one drop of blood to the marked circle and let it dry thoroughly
- Transport the sample to the laboratory at ambient room temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test should be ordered after a clinical evaluation by a neurologist or a clinical geneticist. A negative NGS result does not exclude all genetic causes of myopathy, and variants of uncertain significance require cautious interpretation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Inadequate sample volume
- Mislabeled or unlabeled sample
- FTA card that is wet, contaminated, or not dried properly
Understanding Your Results
Consult a neurologist or clinical geneticist if there is progressive muscle weakness, hypotonia, infantile muscle hypertrophy, difficulty swallowing, respiratory failure of unclear cause, cardiomyopathy, or a family history of myofibrillar myopathy.
Limitations
- ⚠NGS detects sequence variants in coding regions and flanking splice sites; large deletions/duplications, deep intronic variants, and structural rearrangements may not be detected
- ⚠Variants of uncertain clinical significance may be reported and may require additional family studies
- ⚠A negative result does not completely exclude CRYAB-related myopathy or other genetic myopathies
- ⚠Results must be interpreted by a clinical geneticist in the context of the patient's clinical presentation and family history
Risks & Considerations
- ●Minor pain, bruising, or bleeding at the venipuncture site
- ●Anxiety or dizziness during blood collection
- ●FTA card finger-prick may cause mild local discomfort
Interfering Factors
- ●Poor DNA quantity or quality
- ●Sample mix-up or mislabeling
- ●Insufficient sample volume
- ●Low-level mosaicism may lead to false-negative results
Frequently Asked Questions
What is the CRYAB gene NGS genetic test?
What is the cost of the CRYAB gene myopathy NGS genetic test at DNA Labs India?
What sample is required for this test?
Do I need to fast before the test?
How long does it take to get the report?
What conditions are associated with mutations in the CRYAB gene?
Who should take this test?
Why is genetic counselling recommended?
What mutations does the NGS test detect?
What does a pathogenic variant result mean?
Can this test be done during pregnancy?
Is home sample collection available?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.