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Requisites
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 Renal Diseases Of Glucose Handling Gene Panel test is 21 days.

What are the prerequisites for the test Renal Diseases Of Glucose Handling Gene Panel

  • Minimum age: None
  • Specimen type: Whole blood, saliva, or buccal swab
  • Specimen requirements: 2-5 mL whole blood in EDTA tube, 2 mL saliva, or 2 buccal swabs
  • Turnaround time: 3-4 weeks
  • Shipping instructions: Ship at room temperature
  • Storage instructions: Store at room temperature

What are the measure values for the test Renal Diseases Of Glucose Handling Gene Panel

Gene Measure Value
ABCC8 0.25
CACNA1D 0.12
GLIS3 0.18
HNF1A 0.30
HNF4A 0.27

What does this test Renal Diseases Of Glucose Handling Gene Panel identify?

  • Glucose transporter 2 (SLC2A2) gene mutations: These mutations can lead to Fanconi-Bickel syndrome, a rare genetic disorder characterized by excessive glucose and galactose in the blood and urine.
  • Glucokinase (GCK) gene mutations: Mutations in this gene can cause maturity-onset diabetes of the young (MODY), a form of diabetes that is often diagnosed before the age of 25 and is caused by a single gene mutation.
  • Hepatocyte nuclear factor 1 alpha (HNF1A) gene mutations: Mutations in this gene can also cause MODY, specifically MODY3.
  • Hepatocyte nuclear factor 1 beta (HNF1B) gene mutations: Mutations in this gene can lead to maturity-onset diabetes of the young type 5 (MODY5) as well as renal cysts and diabetes syndrome (RCAD).
  • Hepatocyte nuclear factor 4 alpha (HNF4A) gene mutations: Mutations in this gene can cause MODY1, a subtype of maturity-onset diabetes of the young.

Why is this test Renal Diseases Of Glucose Handling Gene Panel taken?

The Renal Diseases Of Glucose Handling Gene Panel test is taken to identify genetic mutations that may be associated with renal diseases affecting glucose handling. These mutations can affect the kidneys' ability to reabsorb glucose, leading to conditions such as renal glycosuria and Fanconi syndrome.

By analyzing specific genes known to be involved in glucose handling in the kidneys, this test can help diagnose these conditions and guide treatment decisions. It can also provide valuable information for genetic counseling and family planning.

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