Mucopolysaccharidosis gene panel
Test Name
Mucopolysaccharidosis gene panel
Home Collection, Lab Visit
Test Code
GEN0338
Test Components/ Genes/ Parameters
genetic analysis of Mucropolysachharidosis
Sample Report
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Test Information
TAT DETAILS
21 Days
PRE-TEST INSTRUCTIONS
Clinical History of Patient
CLINICAL UTILITY
confirm a diagnosis and determine which type of mucopolysaccharidosis is present.
SPECIMEN STABILITY
NA
METHODOLOGY
Next Generation Sequencing
STORAGE TEMPERATURE
NA
SPECIMEN TYPE
Amniotic Fluid/ Chorionic Villus Sample/Peripheral Venous Blood/Cord blood,/Extracted DNA/Dry Blood Spot
Frequently Asked Questions
Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders that inhibit the body’s ability to break down glycosaminoglycans (GAGs), long, unbranched polysaccharides involved in processes such as cell adhesion and cellular signaling. GAG buildup in the lysosomes of cells results in numerous health complications.
confirm a diagnosis and determine which type of mucopolysaccharidosis is present.
Next Generation Sequencing
Pathogenic, Non Pathogenic, VOUS or Benign