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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 test Disorders Of Congenital Glycosylation Test is 10 business days.

What are the prerequisites for the test Disorders Of Congenital Glycosylation Test

  • Patients must have clinical symptoms consistent with a suspected congenital glycosylation disorder
  • Confirmation of the diagnosis by biochemical testing or molecular genetic testing
  • Physician referral for testing
  • Insurance coverage or ability to pay for the test

What are the measure values for the test Disorders Of Congenital Glycosylation Test

  • Alpha-1,2-mannosidase activity: 0-5 nmol/hour/mg protein
  • Beta-1,4-galactosyltransferase activity: 0-5 nmol/hour/mg protein
  • Phosphomannomutase activity: 0-5 nmol/hour/mg protein
  • UDP-N-acetylglucosamine 1-P transferase activity: 0-5 nmol/hour/mg protein
  • Blood transferrin isoelectric focusing: Normal pattern

What does this test Disorders Of Congenital Glycosylation Test identify?

Disorders Of Congenital Glycosylation Test

The Disorders Of Congenital Glycosylation Test is a diagnostic test that identifies a group of rare genetic disorders known as Congenital Disorders of Glycosylation (CDG). These disorders are characterized by abnormalities in the way sugars are attached to proteins and lipids in the body.

The test helps to identify specific types of CDG by analyzing the levels of glycosylation in a patient's blood or urine samples. This can help healthcare providers determine the underlying cause of a patient's symptoms, such as developmental delays, intellectual disabilities, seizures, and other neurological problems.

Early detection of CDG through this test can lead to appropriate management and treatment strategies, as well as genetic counseling for affected individuals and their families.

Why is this test Disorders Of Congenital Glycosylation Test taken?

Disorders of Congenital Glycosylation Test

The Disorders of Congenital Glycosylation (CDG) test is taken to diagnose and monitor individuals who are suspected of having a CDG disorder. CDG disorders are a group of genetic disorders that affect the way the body processes sugars and attaches them to proteins. This can lead to a wide range of symptoms including developmental delays, intellectual disabilities, seizures, and organ dysfunction.

By testing for CDG disorders, healthcare providers can accurately diagnose the condition and provide appropriate treatment and management strategies. Early detection and intervention can help improve outcomes and quality of life for individuals with CDG disorders.

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