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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.
Pathogenic, Non Pathogenic, VOUS or Benign