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Reports Within:

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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 Oculocutaneous Albinism (OCA) Gene Panel is 14 days.

What are the prerequisites for the test Oculocutaneous Albinism (OCA) Gene Panel

  • Sample Type: Whole Blood
  • Specimen Required: 2-5 mL Blood in EDTA tube
  • Shipping Instructions: Ship at room temperature
  • Turnaround Time: 3-4 weeks
  • Methodology: Next Generation Sequencing (NGS)
  • Limitations: Mutations in the promoter region, large deletions, large duplications, and other types of genetic variants will not be detected by this test

What are the measure values for the test Oculocutaneous Albinism (OCA) Gene Panel

  • OCA1 (TYR) gene sequencing
  • OCA2 (OCA2) gene sequencing
  • SLC45A2 gene sequencing
  • TYRP1 gene sequencing
  • OCA4 (SLC24A5) gene sequencing

What does this test Oculocutaneous Albinism (OCA) Gene Panel identify?

  • Oculocutaneous Albinism (OCA) Gene Panel identifies mutations in genes associated with OCA, a group of inherited disorders characterized by a reduction or absence of melanin pigment in the skin, hair, and eyes.
  • The panel tests for mutations in genes such as TYR, OCA2, TYRP1, SLC45A2, and SLC24A5, which are known to be involved in the production and distribution of melanin in the body.
  • Identifying mutations in these genes can help in diagnosing different types of OCA and determining the specific genetic cause of the condition in an individual.
  • This information is important for genetic counseling, personalized treatment plans, and understanding the inheritance pattern of OCA within a family.

Why is this test Oculocutaneous Albinism (OCA) Gene Panel taken?

The Oculocutaneous Albinism (OCA) Gene Panel test is taken to diagnose and confirm the presence of Oculocutaneous Albinism, a group of inherited disorders that affect the coloring (pigmentation) of the skin, hair, and eyes. This test is recommended for individuals who exhibit symptoms of albinism such as very light skin, hair, and eyes, as well as vision problems. The OCA Gene Panel test analyzes a group of genes known to be associated with Oculocutaneous Albinism to identify any mutations or abnormalities that may be causing the condition. This information can help healthcare providers determine the appropriate treatment and management plan for individuals with Oculocutaneous Albinism.

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