GALACTOSIALIDOSIS GENE PANEL BY NGS, EDTA BLOOD

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NABL Cap Accredited    
The Galactosialidosis Gene Panel by NGS is a specialized genetic test used to detect mutations associated with galactosialidosis, a rare lysosomal storage disorder caused by defects in the CTSA gene. This condition leads to progressive neurological impairment, vision problems, organ enlargement, and skeletal changes. The test is performed on an EDTA blood sample using advanced Next Generation Sequencing for precise identification of pathogenic variants. Metropolis Healthcare provides reliable and accurate results to support early diagnosis, clinical management, and genetic counseling for affected families

  • 17 Crores+ Samples Processed
  • World Class Technology Labs
  • 25+ Years of Trust & Experience
  • Free Home Collection

Price: Rs. 21,000.00

Sample Type: EDTA BLOOD

Fasting Not Required


Booking Procedure:
  1. Technician from Metropolis will be assigned for a home sample collection after booking confirmation.
  2. Sample will be collected by our technician at your address at given slot.
  3. You can make the payment to the technician at the time of collection
  4. Your sample will then be transported to the nearest collection center and will be centrifuged before sending to the lab for processing.
  5. Soft copy reports will be sent to your email address within 24 to 48 hours or as per defined TAT for Tests.

Frequently Asked Questions (FAQ's):

What is galactosialidosis?
It is a rare inherited metabolic disorder caused by enzyme deficiencies that lead to the accumulation of complex sugars in the body.

Which gene is tested in this panel?
The CTSA gene is analyzed, as mutations in this gene are the primary cause of galactosialidosis.

How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses advanced NGS technology to detect clinically significant CTSA gene mutations with high accuracy.

What sample type is required?
An EDTA whole blood sample is needed for testing.

Who should consider this test?
Individuals with developmental delay, coarse facial features, vision problems, organ enlargement, or a family history of lysosomal storage disorders may benefit.

Is any special preparation needed?
No fasting or preparation is required prior to sample collection.

How long do results take at Metropolis Healthcare?
Results are typically available within a few working days depending on laboratory workflow.

How do the results help?

They confirm diagnosis, guide clinical care, and provide essential information for genetic counseling and family planning 

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