Nx GEN SEQUENCING: EPISODIC ATAXIA Test

Nx GEN SEQUENCING: EPISODIC ATAXIA Test

Disease: Genetic Disorders-Ataxia

Method: NGS, Sanger sequencing

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Sample Types
  • Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

23,400.00/- Rs ₹26,000.0010% off

  • Results in : Sample Daily by 9 am; Report 40 Working days

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Nx GEN SEQUENCING: EPISODIC ATAXIA Test Cost 23400 Rs


Test Name Nx GEN SEQUENCING: EPISODIC ATAXIA Test
Test type Neurologist
Pre-test Information Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Report Delivery Sample Daily by 9 am; Report 40 Working days
Components CACNA1A, CACNB4, GABRD, GABRG2, KCNA1, SCN1A, SCN1B, SCN2A, SCN9A, SLC1A3
Price ₹ 23400
Method NGS, Sanger sequencing

Nx GEN SEQUENCING: EPISODIC ATAXIA Test Details


Short Description

Episodia ataxia (EA) Types 1 & 2 are autosomal dominant disorders comprising of gait impairment which maybe associated with nystagmus, hand incoordination and tremors. In addition, manifestations maybe purely cerebellar or mixed cerebellar-brainstem / cerebellar-basal ganglia or spinal cord & peripheral nerve disorders. Episodic ataxia has been mapped to KCNA1 gene - chromosome 12p for EA Type 1 and chromosome 19p for EA Type 2. EA Type 1 has short episodes of ataxia with myokymia & nystagmus whereas EA Type 2 has long episodes which can last for hours or days. Upto 8 types of EA have been described. EA type 5 is caused by mutation in the CACNB4 gene on chromosome 2q22-q23. EA type 6 is caused by mutation in the SLC1A3 gene which codes for protein that transports glumate a neurotransmitter present on chromosome 5p13. Genetic causes of other types of episodic ataxia are not very clear and are under research.

Test Specifications

  • Speciality: Neurologist

  • Components: CACNA1A, CACNB4, GABRD, GABRG2, KCNA1, SCN1A, SCN1B, SCN2A, SCN9A, SLC1A3

  • Department: MOLECULAR DIAGNOSTICS

  • Shipping Stability: Room Temperature: 6 hrs, Refrigerator:72 hrs, Frozen: NA

PreTest Information

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Detail Description

Nx GEN SEQUENCING: EPISODIC ATAXIA Test cost INR:23400 symptoms diagnosis

Episodic Ataxia is a rare neurological disorder that affects the coordination and balance of an individual. The condition is characterized by recurrent episodes of ataxia, which is a lack of muscle coordination while performing voluntary movements.

Episodic Ataxia is caused by genetic mutations, which affect the ion channels in the brain. There are several types of Episodic Ataxia, each caused by different mutations. DNA Labs India offers Nx GEN Sequencing for Episodic Ataxia, which is a genetic test that analyzes the DNA sequence of the patient to identify the underlying genetic mutation.

Symptoms of Episodic Ataxia

Episodic Ataxia is characterized by the following symptoms:

  • Episodes of ataxia that last for minutes to hours
  • Unsteadiness
  • Dizziness
  • Slurred speech
  • Double vision
  • Difficulty swallowing
  • Muscle weakness

The severity and frequency of the symptoms vary from person to person. Some individuals may experience mild symptoms, while others may have severe episodes that affect their daily activities.

Diagnosis of Episodic Ataxia

Episodic Ataxia is diagnosed through a combination of clinical evaluation and genetic testing. A doctor may conduct a physical examination and review the medical history of the patient to identify the symptoms and rule out other conditions.

Genetic testing is used to confirm the diagnosis of Episodic Ataxia and identify the underlying genetic mutation. Nx GEN Sequencing is a genetic test that analyzes the DNA sequence of the patient to identify the genetic mutation responsible for Episodic Ataxia. The test is highly accurate and can detect the mutation even in cases where other genetic tests have failed.

Cost of Nx GEN Sequencing for Episodic Ataxia

The cost of Nx GEN Sequencing for Episodic Ataxia is INR 23400. The test is conducted at DNA Labs India, which is a leading genetic testing laboratory in India. The cost of the test includes the analysis of the DNA sequence and the interpretation of the results by a team of expert geneticists.

At DNA Labs India, we are committed to providing high-quality and affordable genetic testing services to our patients. Our state-of-the-art laboratory is equipped with the latest technology and staffed by a team of experienced geneticists and technicians. We ensure that our patients receive accurate and timely results, which can help them make informed decisions about their health.

Conclusion

Episodic Ataxia is a rare neurological disorder that can affect an individual's coordination and balance. Nx GEN Sequencing is a genetic test that can help diagnose Episodic Ataxia by identifying the underlying genetic mutation. The test is highly accurate and affordable, making it accessible to patients in India. If you or someone you know is experiencing symptoms of Episodic Ataxia, consult a doctor and consider getting genetic testing done at DNA Labs India.

Episodia ataxia (EA) Types 1 & 2 are autosomal dominant disorders comprising of gait impairment which maybe associated with nystagmus, hand incoordination and tremors. In addition, manifestations maybe purely cerebellar or mixed cerebellar-brainstem / cerebellar-basal ganglia or spinal cord & peripheral nerve disorders. Episodic ataxia has been mapped to KCNA1 gene - chromosome 12p for EA Type 1 and chromosome 19p for EA Type 2. EA Type 1 has short episodes of ataxia with myokymia & nystagmus whereas EA Type 2 has long episodes which can last for hours or days. Upto 8 types of EA have been described. EA type 5 is caused by mutation in the CACNB4 gene on chromosome 2q22-q23. EA type 6 is caused by mutation in the SLC1A3 gene which codes for protein that transports glumate a neurotransmitter present on chromosome 5p13. Genetic causes of other types of episodic ataxia are not very clear and are under research.

Frequently Asked Questions

  • What is the cost of Nx GEN SEQUENCING: EPISODIC ATAXIA Test?

    Cost of Nx GEN SEQUENCING: EPISODIC ATAXIA Test is 23400 Rs

₹23,400.00 ₹26,000.0010% off

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