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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 Biotinidase Deficiency (BTD) Gene Analysis Test is 14 days.

What are the prerequisites for the test Biotinidase Deficiency (BTD) Gene Analysis Test

  • Patients must be referred by a healthcare provider.
  • Patients must have a suspected or confirmed diagnosis of biotinidase deficiency.
  • Patients must have a blood sample collected for analysis.
  • Patient must not have taken any biotin supplements for at least 24 hours prior to the test.

What are the measure values for the test Biotinidase Deficiency (BTD) Gene Analysis Test

  • Test Name: Biotinidase Deficiency (BTD) Gene Analysis Test
  • Measure Values:
    • Gene Analysis - BTD Gene Mutation: Positive/Negative
    • Biotinidase Enzyme Activity Level: Normal/Low
    • Result Interpretation: Presence/Absence of Biotinidase Deficiency

What does this test Biotinidase Deficiency (BTD) Gene Analysis Test identify?

  1. This test identifies mutations in the BTD gene which can cause Biotinidase Deficiency (BTD).
  2. Biotinidase Deficiency is an inherited disorder that affects the body's ability to recycle the vitamin biotin.
  3. The test helps in diagnosing Biotinidase Deficiency in individuals who may have symptoms such as seizures, skin rash, hair loss, and neurological problems.
  4. Early detection of Biotinidase Deficiency through this test can lead to timely treatment and management of the condition.

Why is this test Biotinidase Deficiency (BTD) Gene Analysis Test taken?

Reasons for taking Biotinidase Deficiency (BTD) Gene Analysis Test

Biotinidase Deficiency (BTD) is an inherited disorder that affects the body's ability to process biotin, a B vitamin that is important for various bodily functions. This test is taken to diagnose individuals who may have BTD or are at risk of developing it.

Some of the reasons for taking this test include:

  • Screening newborns: The BTD gene analysis test is often included in newborn screening programs to identify infants who may have BTD and require early treatment.
  • Diagnosing symptoms: Individuals who exhibit symptoms of BTD, such as seizures, skin rash, and developmental delays, may undergo this test to confirm the diagnosis.
  • Family history: If there is a family history of BTD or if a close family member has been diagnosed with the condition, individuals may choose to undergo genetic testing to determine their risk.
  • Preventive measures: Knowing one's genetic risk for BTD can help individuals take preventive measures, such as starting biotin supplements early, to manage the condition effectively.

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