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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 the report can be obtained for the test DRPLA Gene Analysis Autosomal Dominant Ataxia Test is typically 21-28 days from the date of sample collection.

What are the prerequisites for the test DRPLA Gene Analysis Autosomal Dominant Ataxia Test

  • Patients must have symptoms consistent with autosomal dominant ataxia, including progressive ataxia, dysarthria, and other neurological symptoms
  • Patients must have a family history of autosomal dominant ataxia
  • Patients must have a referral from a qualified healthcare provider
  • Patients must provide informed consent for genetic testing

What are the measure values for the test DRPLA Gene Analysis Autosomal Dominant Ataxia Test

  • Normal: Less than 36
  • Intermediate: 36-49
  • Expanded: 50 or greater

What does this test DRPLA Gene Analysis Autosomal Dominant Ataxia Test identify?

This test identifies the presence of the DRPLA gene mutation, which is associated with Autosomal Dominant Ataxia. Autosomal Dominant Ataxia is a genetic disorder that causes progressive problems with movement and coordination. The DRPLA gene analysis helps in diagnosing this condition by detecting mutations in the gene that are responsible for the disease.

Why is this test DRPLA Gene Analysis Autosomal Dominant Ataxia Test taken?

DRPLA Gene Analysis Autosomal Dominant Ataxia Test

The DRPLA Gene Analysis Autosomal Dominant Ataxia Test is taken to diagnose or confirm the presence of Dentatorubral-pallidoluysian atrophy (DRPLA), which is a rare genetic disorder that affects the brain and nervous system. This test is specifically designed to detect mutations in the DRPLA gene, which is responsible for causing the condition.

DRPLA is characterized by symptoms such as ataxia (loss of coordination and balance), involuntary movements, cognitive impairment, and psychiatric symptoms. By identifying mutations in the DRPLA gene, healthcare providers can provide an accurate diagnosis and develop a personalized treatment plan for individuals affected by this genetic disorder.

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