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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 for obtaining the report for the Microphthalmia & Anophthalmia Gene Panel test is typically within 4-6 weeks from the date of sample collection.

What are the prerequisites for the test Microphthalmia & Anophthalmia Gene Panel

  • Completed test requisition form
  • Sample type: Peripheral blood (3-5 ml in EDTA tube)
  • Patient information including name, date of birth, and sex
  • Family history and clinical information
  • Consent form signed by the patient or legal guardian

What are the measure values for the test Microphthalmia & Anophthalmia Gene Panel

  • Mitf Gene Sequencing: 98-100%
  • Mitf Gene Deletion/Duplication Analysis: 95-98%
  • Ocular Development Genes Sequencing Panel: 80-85%
  • Ocular Development Genes Deletion/Duplication Analysis: 75-80%

What does this test Microphthalmia & Anophthalmia Gene Panel identify?

  • Microphthalmia & Anophthalmia Gene Panel identifies mutations in genes associated with microphthalmia and anophthalmia.
  • These conditions are characterized by underdevelopment or absence of one or both eyes.
  • The panel typically includes genes such as SOX2, OTX2, STRA6, and others that are known to be involved in eye development.
  • Identifying mutations in these genes can help in diagnosing individuals with microphthalmia or anophthalmia and may also provide information about the underlying genetic cause of the condition.

Why is this test Microphthalmia & Anophthalmia Gene Panel taken?

Reason for taking the Microphthalmia & Anophthalmia Gene Panel test:

  • Microphthalmia: This test is taken to identify genetic mutations associated with microphthalmia, a condition characterized by abnormally small eyes. Understanding the genetic cause of microphthalmia can help in diagnosis, prognosis, and treatment decisions.
  • Anophthalmia: The gene panel test is also used to detect genetic variants linked to anophthalmia, a rare condition where one or both eyes are missing. Identifying the genetic basis of anophthalmia can provide valuable information for patient management and genetic counseling.
  • Hereditary Risk Assessment: Individuals with a family history of microphthalmia or anophthalmia may undergo this test to assess their risk of inheriting these conditions and to guide reproductive planning.
  • Research and Development: In some cases, the gene panel test is performed as part of research studies to further understand the genetic mechanisms underlying microphthalmia and anophthalmia.

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