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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 Hereditary Multiple Exostoses (HME) Gene Analysis Test is typically 21 days. However, the exact turnaround time may vary depending on the specific testing facility and other factors.

What are the prerequisites for the test Hereditary Multiple Exostoses (HME) Gene Analysis Test

  • Medical history and physical examination to confirm symptoms of HME
  • Familial history of HME
  • Genetic counseling to understand the implications of the test results
  • Consent form signed by the patient or legal guardian
  • Blood or saliva sample for genetic testing

What are the measure values for the test Hereditary Multiple Exostoses (HME) Gene Analysis Test

  • Number of Exostoses
  • Presence of EXT1 and EXT2 gene mutations
  • Confirmation of diagnosis of HME

What does this test Hereditary Multiple Exostoses (HME) Gene Analysis Test identify?

  • This test identifies mutations in the genes associated with Hereditary Multiple Exostoses (HME).
  • HME is a genetic disorder characterized by the growth of multiple benign bone tumors called exostoses.
  • The test helps in confirming a diagnosis of HME in individuals with a family history of the condition.
  • It can also be used for prenatal testing to determine if a fetus has inherited the genetic mutation for HME.
  • Early identification of HME through this test allows for appropriate monitoring and management of the condition to prevent complications.

Why is this test Hereditary Multiple Exostoses (HME) Gene Analysis Test taken?

Hereditary Multiple Exostoses (HME) Gene Analysis Test

This test is taken to diagnose Hereditary Multiple Exostoses (HME), which is a rare genetic disorder characterized by the growth of multiple benign bone tumors called osteochondromas. These tumors can cause pain, deformity, and limited range of motion in affected individuals.

The HME Gene Analysis Test specifically looks for mutations in the EXT1 and EXT2 genes, which are known to be associated with HME. Identifying these mutations can help confirm a diagnosis of HME and provide information about the likelihood of passing the condition on to future generations.

Early detection of HME through genetic testing can allow for early intervention and management of symptoms, improving the quality of life for individuals with the condition. It can also provide valuable information for family planning and genetic counseling.

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