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Measures

Number of red blood cells in the blood

Identifies

Red blood cell disorders

Measures: Number of red blood cells in the blood

Identifies: Red blood cell disorders

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What is the maximum days the report can be obtained for the test

The maximum days for obtaining the report for the test Mucopolysaccharidosis (MPS) Gene Panel is typically 4-6 weeks. This timeframe includes the time for sample collection, processing, analysis, and report generation.

What are the prerequisites for the test Mucopolysaccharidosis (MPS) Gene Panel

  • Written informed consent from the patient or legal guardian
  • Completed test requisition form
  • Family history of MPS or suspicion of MPS based on clinical symptoms
  • Confirmation of diagnosis through biochemical testing or clinical evaluation
  • Availability of a biological sample for genetic testing (e.g. blood or saliva)

What are the measure values for the test Mucopolysaccharidosis (MPS) Gene Panel

  • Alpha-L-iduronidase (IDUA) gene sequencing
  • Arylsulfatase B (ARSB) gene sequencing
  • Beta-glucuronidase (GUSB) gene sequencing
  • Beta-galactosidase (GLB1) gene sequencing
  • Beta-glucuronidase (GUSB) gene sequencing
  • Beta-mannosidase (MANBA) gene sequencing
  • Exostosin 1 (EXT1) gene sequencing
  • Exostosin 2 (EXT2) gene sequencing
  • Galactosamine (N-acetyl)-6-sulfatase (GALNS) gene sequencing
  • Iduronate 2-sulfatase (IDS) gene sequencing
  • N-acetylgalactosamine-6-sulfatase (GALNS) gene sequencing
  • N-acetylgalactosaminidase alpha (NAGLU) gene sequencing
  • N-acetylglucosamine-6-sulfatase (GNS) gene sequencing
  • N-acetylglucosaminidase alpha (NAGA) gene sequencing
  • N-acetylglucosaminidase beta (HEXB) gene sequencing
  • N-acetylglucosaminidase beta (HEXB) gene sequencing
  • N-acetylgalactosaminidase alpha (NAGA) gene sequencing
  • N-acetylgalactosaminidase alpha (NAGLU) gene sequencing
  • N-acetylgalactosaminidase alpha (NAGLU) gene sequencing
  • N-acetylgalactosaminidase alpha (NAGLU) gene sequencing

What does this test Mucopolysaccharidosis (MPS) Gene Panel identify?

  • Mucopolysaccharidosis (MPS) Gene Panel identifies mutations in genes associated with various types of MPS disorders, including MPS I, MPS II, MPS III, MPS IV, MPS VI, and MPS VII.
  • Specifically, this test looks for mutations in genes such as IDUA, IDS, SGSH, NAGLU, GALNS, and GUSB, which are responsible for encoding enzymes involved in the breakdown of glycosaminoglycans (GAGs).
  • By identifying mutations in these genes, the test can help diagnose individuals with MPS disorders and determine the specific type of MPS they have.
  • Early detection of MPS through genetic testing can lead to better management and treatment options for affected individuals.

Why is this test Mucopolysaccharidosis (MPS) Gene Panel taken?

The Mucopolysaccharidosis (MPS) Gene Panel test is taken to diagnose individuals suspected of having MPS, a group of inherited metabolic disorders characterized by the absence or malfunctioning of enzymes needed to break down molecules called glycosaminoglycans.

This test helps in identifying mutations in genes associated with MPS, allowing for early detection, accurate diagnosis, and appropriate treatment planning. It is particularly important for individuals with symptoms such as developmental delays, skeletal abnormalities, organ enlargement, and facial dysmorphism.

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