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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 the report can be obtained for the test Homocystinuria Gene Panel is 14 days.

What are the prerequisites for the test Homocystinuria Gene Panel

  • Patient's informed consent
  • Requisition form with detailed clinical information
  • Sample type: Whole blood in EDTA tube
  • Minimum volume: 3 mL
  • Storage and transport: Ship at room temperature
  • Turnaround time: 4-6 weeks

What are the measure values for the test Homocystinuria Gene Panel

Measure Value Range
Methionine 5-20 umol/L
Cystathionine 1-4 umol/L
Homocysteine 5-15 umol/L
Pyridoxal 5'-phosphate 20-100 ng/mL

What does this test Homocystinuria Gene Panel identify?

  • This test identifies mutations in the genes associated with homocystinuria, a rare genetic disorder characterized by elevated levels of homocysteine in the blood.
  • The genes included in the panel are CBS, MTHFR, MTR, MTRR, and MMACHC.
  • Identifying mutations in these genes can help diagnose homocystinuria and guide treatment decisions.
  • This test may be recommended for individuals with symptoms of homocystinuria, such as developmental delays, vision problems, and skeletal abnormalities.
  • Early detection of homocystinuria through genetic testing can lead to better management of the condition and improved outcomes for affected individuals.

Why is this test Homocystinuria Gene Panel taken?

Homocystinuria Gene Panel test is taken to diagnose and assess the risk of homocystinuria, a rare genetic disorder that affects the body's ability to process certain amino acids. This test specifically looks for mutations in the genes associated with homocystinuria, such as the CBS, MTHFR, MTR, and MTRR genes. By identifying these mutations, healthcare providers can determine the best course of treatment and management for individuals with homocystinuria.

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