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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 the report can be obtained for the GM1 Gangliosidosis/Mucopolysaccharidosis Type IVB Gene Analysis Test is 21 days.

What are the prerequisites for the test GM1 Gangliosidosis/Mucopolysaccharidosis Type IVB Gene Analysis Test

  • Specimen Type: Whole blood in EDTA (lavender top tube)
  • Specimen Volume: 3-5 mL
  • Collection Container: Lavender top (EDTA) tube
  • Storage Instructions: Maintain specimen at room temperature
  • Rejection Criteria: Hemolysis, clotted specimen, frozen specimen, quantity not sufficient for analysis

What are the measure values for the test GM1 Gangliosidosis/Mucopolysaccharidosis Type IVB Gene Analysis Test

  • GM1 Gangliosidosis Gene Analysis Test: Detects mutations in the GLB1 gene
  • Mucopolysaccharidosis Type IVB Gene Analysis Test: Detects mutations in the GLB1 gene

What does this test GM1 Gangliosidosis/Mucopolysaccharidosis Type IVB Gene Analysis Test identify?

  • GM1 Gangliosidosis/Mucopolysaccharidosis Type IVB Gene Analysis Test identifies mutations in the GLB1 gene that are associated with GM1 gangliosidosis and mucopolysaccharidosis type IVB.
  • GM1 gangliosidosis is a rare genetic disorder that affects the nervous system and results in developmental regression, seizures, and movement abnormalities.
  • Mucopolysaccharidosis type IVB, also known as Morquio B syndrome, is a lysosomal storage disorder that causes skeletal abnormalities, vision problems, and respiratory issues.
  • This test helps in diagnosing individuals with symptoms of GM1 gangliosidosis or mucopolysaccharidosis type IVB, allowing for appropriate medical management and genetic counseling.

Why is this test GM1 Gangliosidosis/Mucopolysaccharidosis Type IVB Gene Analysis Test taken?

Reasons for GM1 Gangliosidosis/Mucopolysaccharidosis Type IVB Gene Analysis Test

The GM1 Gangliosidosis/Mucopolysaccharidosis Type IVB Gene Analysis Test is taken for the following reasons:

  1. Diagnostic Purposes: This test is used to diagnose GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB, which are genetic disorders that affect the metabolism of certain molecules in the body.
  2. Screening: The test may be recommended for individuals who have a family history of GM1 Gangliosidosis or Mucopolysaccharidosis Type IVB, or for couples who are planning to have children and want to assess their risk of passing on the condition to their offspring.
  3. Prognostic Purposes: The test can help healthcare providers determine the severity of the condition and develop a treatment plan tailored to the individual patient.
  4. Genetic Counseling: The results of the test can provide valuable information for genetic counseling, helping individuals understand the risks and implications of carrying a gene mutation associated with GM1 Gangliosidosis or Mucopolysaccharidosis Type IVB.

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