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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 to Obtain Report for Joubert Syndrome Gene Panel Test

The report for the Joubert Syndrome Gene Panel test can typically be obtained within 10-14 business days from the date of sample collection.

What are the prerequisites for the test Joubert Syndrome Gene Panel

  • Requisition Form
  • Sample Requirement: 2-5 ml of whole blood in EDTA tube
  • Completed Consent Form
  • Clinical Information Form

What are the measure values for the test Joubert Syndrome Gene Panel

  • Measure Name: Joubert Syndrome Gene Panel
  • Measure Code: JS-GP
  • Number of Genes Included: 39
  • Gene List:
    • AHI1
    • ARL13B
    • CC2D2A
    • CEP290
    • INPP5E
    • KIF7
    • MKS1
    • NPHP1
    • OFD1
    • RPGRIP1L
    • TMEM67
    • TMEM216
    • TMEM138
    • TMEM237
    • TCTN1
    • TCTN2
    • TCTN3
    • TCTN3
    • TMEM138
    • TMEM216
    • TMEM67
    • RPGRIP1L
    • OFD1
    • NPHP1
    • MKS1
    • KIF7
    • INPP5E
    • CEP290
    • CC2D2A
    • ARL13B
    • AHI1
    • B9D1
    • B9D2
    • CEP41
    • C5ORF42
    • CSPP1
    • OFD1
    • TCTN1
    • TMEM216
    • TMEM231

What does this test Joubert Syndrome Gene Panel identify?

  1. Joubert Syndrome Gene Panel identifies mutations in genes associated with Joubert syndrome, a rare genetic disorder characterized by the underdevelopment of the cerebellar vermis and a malformed brainstem.
  2. The panel includes genes such as AHI1, C5orf42, CC2D2A, INPP5E, TMEM67, and others that are known to be implicated in Joubert syndrome.
  3. Identifying mutations in these genes can aid in confirming a diagnosis of Joubert syndrome and can help in determining the best course of treatment and management for affected individuals.

Why is this test Joubert Syndrome Gene Panel taken?

Reason for Joubert Syndrome Gene Panel Test

Joubert Syndrome Gene Panel Test is taken to diagnose Joubert syndrome, a rare genetic disorder that affects the development of the brain. This test is recommended for individuals who show symptoms of Joubert syndrome such as abnormal eye movements, difficulties with coordination and balance, intellectual disability, and breathing problems. By analyzing the genes associated with Joubert syndrome, this test can confirm the diagnosis and help in determining the best treatment plan for the affected individual.

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