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

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

Detail Description

SCA (SPINOCEREBELLAR ATAXIA): COMPREHENSIVE PROFILE Test cost INR:14000 symptoms diagnosis

SCA or Spinocerebellar Ataxia is a rare genetic disorder that affects the nervous system, specifically the cerebellum. The cerebellum is responsible for coordinating voluntary movement, balance, and posture. The symptoms of SCA vary from person to person and may include difficulty with walking, coordination, and balance, slurred speech, and tremors.

Symptoms of SCA

The symptoms of SCA can vary depending on the type and severity of the disorder. Some common symptoms of SCA include:

• Difficulty with walking and coordination
• Slurred speech
• Tremors
• Difficulty with balance and posture
• Difficulty with fine motor skills
• Difficulty swallowing
• Vision problems
• Cognitive impairment
• Depression and anxiety

Diagnosis of SCA

Diagnosing SCA can be challenging as the symptoms can be similar to those of other disorders. A physical examination, medical history, and family history can help diagnose SCA. Genetic testing is the most accurate way to diagnose SCA. It involves analyzing a sample of blood or saliva to look for specific changes in the genes that cause SCA.

Comprehensive Profile Test for SCA

DNA Labs India offers a comprehensive profile test for SCA. The test analyzes the genes associated with SCA and can identify the specific type of SCA a person has. The test costs INR 14000 and is a non-invasive procedure that requires only a blood or saliva sample.

The comprehensive profile test for SCA can provide valuable information for individuals and their families. It can help identify the specific type of SCA a person has, which can guide treatment options and help manage symptoms. It can also provide information for family planning and genetic counseling.

In Conclusion

SCA is a rare genetic disorder that affects the nervous system and can cause a variety of symptoms. The comprehensive profile test for SCA offered by DNA Labs India can help diagnose the disorder and provide valuable information for treatment and management of symptoms. If you or someone you know is experiencing symptoms of SCA, it is important to seek medical advice and consider genetic testing.

For more information on the comprehensive profile test for SCA or to schedule an appointment, contact DNA Labs India today.

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.