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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

Maximum Days for Report of Glycogen Storage Disease (GSD) Gene Panel Test

The report for the Glycogen Storage Disease (GSD) Gene Panel test can be obtained within 14-21 days from the date of sample collection. This timeframe allows for the necessary processing, analysis, and interpretation of the test results by the laboratory professionals.

What are the prerequisites for the test Glycogen Storage Disease (GSD) Gene Panel

  • Patients suspected of having Glycogen Storage Disease (GSD)
  • Patients with symptoms such as hypoglycemia, hepatomegaly, myopathy, and cardiac involvement
  • Patients with a family history of GSD
  • Physician's prescription

What are the measure values for the test Glycogen Storage Disease (GSD) Gene Panel

  • Glycogen Storage Disease (GSD) Gene Panel test:
    • Gene Panel: GYS1, GYS2, G6PC, SLC37A4, AGL, PYGL, PHKA2, PHKB, PHKG2
    • Method: Next Generation Sequencing (NGS)
    • Specimen Type: Whole Blood, Saliva, Buccal swab
    • Turnaround Time: 2-4 weeks
    • Price: $500-$1000

What does this test Glycogen Storage Disease (GSD) Gene Panel identify?

  • Glycogen Storage Disease (GSD) Gene Panel identifies mutations in genes associated with various types of glycogen storage diseases, including GSD I, GSD II, GSD III, GSD IV, GSD V, GSD VI, GSD IX, and GSD XI.
  • It helps in diagnosing and confirming the specific type of GSD present in an individual based on the genetic mutations detected.
  • The test also provides information on the inheritance pattern of the identified mutations, which can be helpful for genetic counseling and family planning.
  • Identifying mutations in GSD-related genes can aid in personalized treatment and management strategies for individuals with glycogen storage diseases.

Why is this test Glycogen Storage Disease (GSD) Gene Panel taken?

Reasons for taking the Glycogen Storage Disease (GSD) Gene Panel Test

The Glycogen Storage Disease (GSD) Gene Panel Test is taken for the following reasons:

  • To diagnose individuals suspected of having a glycogen storage disease based on their symptoms and medical history.
  • To confirm a diagnosis of glycogen storage disease in individuals who have abnormal glycogen storage in their tissues.
  • To identify the specific type of glycogen storage disease present in an individual, as there are several subtypes with different genetic causes.
  • To determine the genetic cause of glycogen storage disease in an individual's family members, in order to assess their risk of having or passing on the condition.
  • To provide genetic counseling and guidance for individuals and families affected by glycogen storage disease.

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