SPINO-BULBAR MUSCULAR ATROPHY Test
Test Cost: AED 1870.0
Symptoms and Diagnosis:
Spino-bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is a rare genetic disorder that primarily affects males. It is characterized by the degeneration and weakening of muscles, particularly in the spinal cord and brainstem. There is no specific test to diagnose SBMA. Instead, the diagnosis is usually made based on clinical symptoms, family history, and genetic testing. A neurological examination may be conducted to assess muscle strength, reflexes, and coordination.
Test Components:
- AR (Androgen Receptor) Gene mutation
Price: AED 1870.0
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 to be submitted by Tuesday at 11 am; Report to be delivered on Saturday
Method:
PCR, Fragment Analysis
Test Type:
Neurologic Disorder
Doctor:
Neurologist
Test Department:
MOLECULAR DIAGNOSTICS
Pre Test Information:
Duly filled Genomics Clinical information requisition form (Form 20) is mandatory.
Test Details:
Genetic testing is the most reliable method to confirm the diagnosis of SBMA. It involves analyzing the patient’s DNA for a mutation in the androgen receptor gene (AR gene). This mutation is responsible for the development of SBMA. If the mutation is present, it confirms the diagnosis of SBMA. Other tests may be performed to rule out other conditions with similar symptoms, such as electromyography (EMG) to evaluate muscle activity, muscle biopsy to examine muscle tissue, and blood tests to assess hormone levels. It is important to consult with a healthcare professional, such as a neurologist or geneticist, for a proper diagnosis and to discuss available treatment options and management strategies for SBMA.
Test Name | SPINO-BULBAR MUSCULAR ATROPHY Test |
---|---|
Components | *AR (Androgen Receptor) Gene mutatiom |
Price | 1870.0 AED |
Sample Condition | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filledGenomics Clinical information requisition form (Form 20) is mandatory. |
Report Delivery | Sample Tue by 11 am; Report Sat |
Method | PCR, Fragment Analysis |
Test type | Neurologic Disorder |
Doctor | Neurologist |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filledGenomics Clinical information requisition form (Form 20) is mandatory. |
Test Details | Spino-bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is a rare genetic disorder that primarily affects males. It is characterized by the degeneration and weakening of muscles, particularly in the spinal cord and brainstem. There is no specific test to diagnose SBMA. Instead, the diagnosis is usually made based on clinical symptoms, family history, and genetic testing. A neurological examination may be conducted to assess muscle strength, reflexes, and coordination. Genetic testing is the most reliable method to confirm the diagnosis of SBMA. It involves analyzing the patient’s DNA for a mutation in the androgen receptor gene (AR gene). This mutation is responsible for the development of SBMA. If the mutation is present, it confirms the diagnosis of SBMA. Other tests may be performed to rule out other conditions with similar symptoms, such as electromyography (EMG) to evaluate muscle activity, muscle biopsy to examine muscle tissue, and blood tests to assess hormone levels. It is important to consult with a healthcare professional, such as a neurologist or geneticist, for a proper diagnosis and to discuss available treatment options and management strategies for SBMA. |