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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

Maximum Days for Skeletal Dysplasia Gene Panel Report:

The report for the Skeletal Dysplasia Gene Panel test can be obtained within 14-21 business days from the date of sample collection.

What are the prerequisites for the test Skeletal Dysplasia Gene Panel

  • Patients must have clinical features suggestive of skeletal dysplasia
  • Patients must have a family history of skeletal dysplasia
  • Patients must have previously undergone imaging studies that suggest skeletal dysplasia
  • Patients must have consented to genetic testing

What are the measure values for the test Skeletal Dysplasia Gene Panel

  1. COL2A1 Gene Sequencing - $500
  2. FGFR3 Gene Sequencing - $450
  3. GLI3 Gene Sequencing - $400
  4. SHOX Gene Sequencing - $350

What does this test Skeletal Dysplasia Gene Panel identify?

The Skeletal Dysplasia Gene Panel is a genetic test that identifies mutations in genes associated with various skeletal dysplasias. Skeletal dysplasias are a group of disorders that affect the growth and development of the skeleton, leading to abnormal bone formation and growth. These disorders can result in a wide range of skeletal abnormalities, such as short stature, abnormal limb proportions, and bone deformities.

The gene panel tests for mutations in genes that are known to be involved in skeletal dysplasias, including but not limited to:

  • FGFR3 (associated with achondroplasia and other forms of dwarfism)
  • COL2A1 (associated with various types of spondyloepiphyseal dysplasia)
  • COMP (associated with multiple epiphyseal dysplasia)
  • SHOX (associated with Leri-Weill dyschondrosteosis)

By identifying mutations in these genes, the test can help diagnose specific types of skeletal dysplasias and provide valuable information for medical management and genetic counseling.

Why is this test Skeletal Dysplasia Gene Panel taken?

The Skeletal Dysplasia Gene Panel test is taken to identify genetic mutations that are associated with skeletal dysplasias, which are a group of genetic disorders affecting bone and cartilage development. These mutations can cause abnormal growth, shape, and density of bones, leading to various skeletal abnormalities and physical disabilities.

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