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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 report for the MLPA- Von Hippel Lindau Syndrome (VHL) Deletion/Duplication Analysis Test can typically be obtained within 14-21 days of sample submission.

What are the prerequisites for the test MLPA- Von Hippel Lindau Syndrome (VHL) Deletion/Duplication Analysis Test

  • Sample Type: Whole Blood (preferred) or DNA
  • Specimen Container: Lavender Top (EDTA) tube or Yellow Top (ACD) tube for whole blood samples, or DNA sample
  • Specimen Volume: 3-5 mL whole blood or 10-20 μg DNA
  • Specimen Stability: Stable at room temperature or refrigerated for 3 days, frozen at -20°C or colder for longer storage
  • Shipping: Ship at room temperature
  • Turnaround Time: 14-21 days

What are the measure values for the test MLPA- Von Hippel Lindau Syndrome (VHL) Deletion/Duplication Analysis Test

  • Deletion/Duplication Detected: Yes/No
  • Deletion/Duplication Location: Exon(s) affected
  • Deletion/Duplication Size: Number of base pairs affected

What does this test MLPA- Von Hippel Lindau Syndrome (VHL) Deletion/Duplication Analysis Test identify?

  1. Von Hippel Lindau Syndrome (VHL) Deletion/Duplication Analysis Test is a genetic test that identifies deletions and duplications in the VHL gene.
  2. VHL is an autosomal dominant disorder that predisposes individuals to develop various types of tumors, including hemangioblastomas of the central nervous system and retina, renal cell carcinomas, pheochromocytomas, and pancreatic neuroendocrine tumors.
  3. The MLPA test (Multiplex Ligation-dependent Probe Amplification) is a technique used to detect alterations in the number of copies of specific DNA sequences.
  4. By analyzing the VHL gene for deletions and duplications, this test can help in the diagnosis and management of individuals suspected of having Von Hippel Lindau Syndrome.

Why is this test MLPA- Von Hippel Lindau Syndrome (VHL) Deletion/Duplication Analysis Test taken?

MLPA- Von Hippel Lindau Syndrome (VHL) Deletion/Duplication Analysis Test is taken to detect any deletions or duplications in the VHL gene. Von Hippel Lindau Syndrome is a genetic disorder that predisposes individuals to the development of tumors in various organs, such as the brain, spinal cord, adrenal glands, kidneys, and pancreas. Mutations in the VHL gene are responsible for the development of this syndrome.

By performing this test, healthcare providers can determine if there are any deletions or duplications in the VHL gene that may be contributing to the development of Von Hippel Lindau Syndrome. This information can help in providing an accurate diagnosis, assessing the risk of developing tumors, and guiding treatment decisions for individuals with this genetic disorder.

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