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SCA Spinocerebellar Ataxia Comprehensive Profile Test

2,570 د.إ

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The Spinocerebellar Ataxia Comprehensive Profile Test, offered at DNA Labs UAE for a cost of 2570 AED, is a specialized genetic test designed to diagnose and identify specific types of spinocerebellar ataxia (SCA), a progressive, degenerative genetic disorder. This condition affects the cerebellum, the part of the brain that controls coordination and balance, leading to symptoms such as uncoordinated movements, difficulty walking, and speech problems.

SCA encompasses a group of different genetic disorders, each caused by mutations in various genes. The comprehensive profile test aims to pinpoint the exact type of SCA affecting an individual by analyzing their DNA for known mutations associated with the different forms of the disorder. This precise identification is crucial for understanding the progression of the disease, potential treatments, and genetic counseling for affected families.

DNA Labs UAE, utilizing advanced genetic testing technologies, ensures a reliable and accurate diagnosis with this comprehensive test. The information gained from this test can be invaluable for affected individuals and their families in managing the condition and planning for the future.

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SCA Spinocerebellar Ataxia Comprehensive Profile Test

Test Cost: AED 2570.0

Test Components: 6 Genes: ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, PPP2R2B

Sample Condition: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Report Delivery: Sample due by Tuesday, 11 am; Report delivered on Saturday

Method: PCR, Fragment Analysis

Test Type: Neurologic Disorder-Ataxia

Doctor: Neurologist

Test Department: Molecular Diagnostics

Pre Test Information: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Test Details

SCA (Spinocerebellar Ataxia) is a group of genetic disorders characterized by degeneration of the cerebellum and spinal cord, leading to difficulties with coordination and balance. There are currently over 40 different types of SCA identified, each caused by a specific genetic mutation.

Symptoms

  1. Progressive ataxia: Difficulty with coordination and balance, leading to unsteady gait and frequent falls.
  2. Dysarthria: Impaired speech due to muscle weakness and lack of coordination.
  3. Nystagmus: Involuntary eye movements, causing vision problems.
  4. Dysphagia: Difficulty swallowing, leading to choking and aspiration.
  5. Muscle weakness and wasting: Loss of muscle tone and strength, particularly in the limbs.
  6. Tremors: Involuntary shaking movements, particularly in the hands.
  7. Cognitive impairment: Some types of SCA may also involve cognitive decline, including memory problems and difficulty with executive functions.
  8. Peripheral neuropathy: Damage to the peripheral nerves, leading to numbness, tingling, and pain in the extremities.
  9. Loss of reflexes: Reduced or absent deep tendon reflexes, such as the knee jerk reflex.

Diagnosis

  1. Clinical evaluation: A thorough physical examination and medical history review, including assessment of coordination, balance, and reflexes.
  2. Genetic testing: DNA analysis to identify the specific genetic mutation responsible for SCA.
  3. Electromyography (EMG): Measures electrical activity in muscles to assess muscle function and detect any abnormalities.
  4. Brain imaging: MRI or CT scans may be performed to evaluate the structure and function of the brain, particularly the cerebellum.

Treatment

  1. Symptomatic management: There is currently no cure for SCA, so treatment focuses on managing symptoms and improving quality of life.
  2. Physical therapy: Exercises and activities to improve coordination, balance, and muscle strength.
  3. Speech therapy: Techniques to improve speech and swallowing difficulties.
  4. Assistive devices: Walking aids, orthotics, and adaptive equipment to aid mobility and daily activities.
  5. Medications: Some medications may be prescribed to manage specific symptoms, such as tremors or muscle stiffness.
  6. Supportive care: Psychological counseling and support groups to help individuals and their families cope with the challenges of living with SCA.

Prognosis

The prognosis for individuals with SCA varies depending on the specific type and severity of the condition. In general, SCA is a progressive disorder, meaning symptoms worsen over time. The rate of progression and severity of symptoms can vary significantly between individuals. In some cases, SCA may lead to severe disability and reduced life expectancy, while others may experience a milder course of the disease. Regular monitoring and management of symptoms can help improve quality of life and slow down disease progression.

Test Name SCA SPINOCEREBELLAR ATAXIA COMPREHENSIVE PROFILE Test
Components 6 Genes: *ATXN1 *ATXN2 *ATXN3 *ATXN7 *CACNA1A *PPP2R2B
Price 2570.0 AED
Sample Condition 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Report Delivery SampleTue by 11 am; Report Sat
Method PCR, Fragment Analysis
Test type Neurologic Disorder-Ataxia
Doctor Neurologist
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Test Details

SCA (Spinocerebellar Ataxia) is a group of genetic disorders characterized by degeneration of the cerebellum and spinal cord, leading to difficulties with coordination and balance. There are currently over 40 different types of SCA identified, each caused by a specific genetic mutation.

Symptoms:

1. Progressive ataxia: Difficulty with coordination and balance, leading to unsteady gait and frequent falls.

2. Dysarthria: Impaired speech due to muscle weakness and lack of coordination.

3. Nystagmus: Involuntary eye movements, causing vision problems.

4. Dysphagia: Difficulty swallowing, leading to choking and aspiration.

5. Muscle weakness and wasting: Loss of muscle tone and strength, particularly in the limbs.

6. Tremors: Involuntary shaking movements, particularly in the hands.

7. Cognitive impairment: Some types of SCA may also involve cognitive decline, including memory problems and difficulty with executive functions.

8. Peripheral neuropathy: Damage to the peripheral nerves, leading to numbness, tingling, and pain in the extremities.

9. Loss of reflexes: Reduced or absent deep tendon reflexes, such as the knee jerk reflex.

Diagnosis:

1. Clinical evaluation: A thorough physical examination and medical history review, including assessment of coordination, balance, and reflexes.

2. Genetic testing: DNA analysis to identify the specific genetic mutation responsible for SCA.

3. Electromyography (EMG): Measures electrical activity in muscles to assess muscle function and detect any abnormalities.

4. Brain imaging: MRI or CT scans may be performed to evaluate the structure and function of the brain, particularly the cerebellum.

Treatment:

1. Symptomatic management: There is currently no cure for SCA, so treatment focuses on managing symptoms and improving quality of life.

2. Physical therapy: Exercises and activities to improve coordination, balance, and muscle strength.

3. Speech therapy: Techniques to improve speech and swallowing difficulties.

4. Assistive devices: Walking aids, orthotics, and adaptive equipment to aid mobility and daily activities.

5. Medications: Some medications may be prescribed to manage specific symptoms, such as tremors or muscle stiffness.

6. Supportive care: Psychological counseling and support groups to help individuals and their families cope with the challenges of living with SCA.

Prognosis:

The prognosis for individuals with SCA varies depending on the specific type and severity of the condition. In general, SCA is a progressive disorder, meaning symptoms worsen over time. The rate of progression and severity of symptoms can vary significantly between individuals. In some cases, SCA may lead to severe disability and reduced life expectancy, while others may experience a milder course of the disease. Regular monitoring and management of symptoms can help improve quality of life and slow down disease progression.

SKU: TEST-4854 Category:

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