Short Description

Spinocerebellar ataxia (SCA) are autosomal dominant cerebellar ataxias of various types ranging from 1 to 40. SCA1, 2, 3, 6, 7 & 17 are caused by CAG triplet repeat expansions in different genes. SCA8 is due to an untranslated CTG repeat expansion SCA12 is linked to an untranslated CAG repeat SCA10 is caused by an untranslated pentanucleotide repeat. The clinical phenotypes of SCAs overlap, hence genotype has become the gold standard for diagnosis and classification.

PreTest Information

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Detail Description

SCA (SPINOCEREBELLAR ATAXIA) PROFILE: ANY 4 MARKERS Test Cost INR:10000 Symptoms Diagnosis

Spinocerebellar ataxia (SCA) is a group of inherited genetic disorders that cause progressive degeneration of the cerebellum and spinal cord. The symptoms of SCA can vary from person to person, but some of the most common symptoms include:

• Problems with coordination and balance
• Trouble with speech and swallowing
• Difficulty walking or standing
• Loss of muscle control
• Tremors or involuntary movements
• Eye movement abnormalities
• Cognitive impairment

Diagnosis of SCA can be challenging, as there are more than 40 different types of SCA, each caused by a different genetic mutation. Genetic testing can help identify the specific mutation responsible for a patient's symptoms. The SCA profile test offered by DNA Labs India is a comprehensive genetic test that analyzes four specific markers associated with SCA:

• ATXN1
• ATXN2
• CACNA1A
• ATXN3

The cost of the SCA profile test is INR 10,000. Results are typically available within two weeks of sample collection.

The SCA profile test can be an important diagnostic tool for patients experiencing symptoms of SCA, as it can help identify the specific genetic mutation responsible for their condition. This information can be used to develop personalized treatment plans and provide patients with more accurate prognoses.

In addition to its diagnostic value, the SCA profile test can also be useful for individuals with a family history of SCA who may be at risk of developing the condition. By identifying specific genetic mutations, individuals can take proactive steps to manage their risk and potentially prevent or delay the onset of symptoms.

If you or a loved one is experiencing symptoms of SCA or has a family history of the condition, consider speaking with a genetic counselor or healthcare provider about the benefits of genetic testing. The SCA profile test offered by DNA Labs India may be a valuable diagnostic tool to help identify the specific genetic mutation responsible for your symptoms.

Contact DNA Labs India today to learn more about the SCA profile test and other genetic testing options.

Spinocerebellar ataxia (SCA) are autosomal dominant cerebellar ataxias of various types ranging from 1 to 40. SCA1, 2, 3, 6, 7 & 17 are caused by CAG triplet repeat expansions in different genes. SCA8 is due to an untranslated CTG repeat expansion; SCA12 is linked to an untranslated CAG repeat; SCA10 is caused by an untranslated pentanucleotide repeat. The clinical phenotypes of SCAs overlap, hence genotype has become the gold standard for diagnosis and classification.