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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

The maximum days for obtaining the report for the test Klippel Feil Syndrome (KFS) Gene Panel is 15 days.

What are the prerequisites for the test Klippel Feil Syndrome (KFS) Gene Panel

  • Written informed consent from the patient or legal guardian
  • Clinical suspicion of Klippel Feil Syndrome
  • Referral from a healthcare provider
  • Complete clinical history and physical examination
  • Family history evaluation

What are the measure values for the test Klippel Feil Syndrome (KFS) Gene Panel

  • Gene: GDF6
  • Measure: Copy number analysis
  • Technology: MLPA, qPCR
  • Range: 1-10 copies
  • Gene: GDF3
  • Measure: Sequence analysis
  • Technology: Sanger sequencing
  • Range: Detection of nucleotide variants
  • Gene: MEOX1
  • Measure: Deletion/duplication analysis
  • Technology: MLPA, qPCR
  • Range: 1-10 copies

What does this test Klippel Feil Syndrome (KFS) Gene Panel identify?

Klippel Feil Syndrome (KFS) Gene Panel

The Klippel Feil Syndrome (KFS) Gene Panel is a genetic test that identifies mutations in specific genes associated with Klippel Feil Syndrome. This syndrome is a rare congenital disorder characterized by the fusion of two or more cervical vertebrae in the neck, leading to a short neck and restricted movement of the head and neck. The gene panel test helps in confirming a diagnosis of KFS and can also provide information on the specific genetic mutations present in an individual with this syndrome.

The test identifies mutations in genes such as GDF6, MEOX1, and MYO18B, among others, which have been linked to Klippel Feil Syndrome. By analyzing these genes, the test can help healthcare providers better understand the underlying genetic cause of KFS in a patient, which can be crucial for appropriate management and treatment of the condition. Additionally, the test results can also be used for genetic counseling and family planning purposes.

Why is this test Klippel Feil Syndrome (KFS) Gene Panel taken?

The Klippel Feil Syndrome (KFS) Gene Panel test is taken to identify any genetic mutations or variations that may be associated with Klippel Feil Syndrome. KFS is a rare genetic disorder characterized by the fusion of two or more cervical vertebrae in the neck. This can lead to a range of symptoms including neck pain, limited range of motion, and abnormalities in the spine and other parts of the body.

By analyzing the genes known to be associated with KFS, this test can help confirm a diagnosis, guide treatment options, and provide information about the risk of passing the condition on to future generations. It can also help to better understand the underlying genetic mechanisms of the disorder and potentially lead to the development of targeted therapies.

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