TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic DNA Test Cost 20000 Rs

TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic DNA Test

TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic DNA Test

Disease: Neurological Disorders

Method: NGS Technology

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Sample Types
  • Blood or Extracted DNA or One drop Blood on FTA Card o

20,000.00/- Rs ₹28,000.0028% off

  • Results in : 3 to 4 Weeks
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TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic DNA Test Cost 20000 Rs

Test Name TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic DNA Test
Test type Neurologist
Pre-test Information Clinical History of Patient who is going for TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant
Report Delivery 3 to 4 Weeks
Components
Price ₹ 20000
Method NGS Technology

TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic DNA Test Details

Short Description

NGS genetic DNA test detecets for variant and mutation detection in TWNK gene for Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant

Test Specifications

  • Speciality: Neurologist

  • Components:

  • Department: Genetics

  • Shipping Stability: Ambient Room Temperature

PreTest Information

Clinical History of Patient who is going for TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant

Detail Description

TWNK Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3, Autosomal Dominant NGS Genetic DNA Test

Progressive external ophthalmoplegia (PEO) is a rare genetic disorder that affects the muscles that control eye movement. It is characterized by weakness or paralysis of the eye muscles, causing difficulty in moving the eyes. PEO can be caused by mutations in different genes, including the TWNK gene. TWNK-related PEO is a type of mitochondrial disease that is inherited in an autosomal dominant manner.

Symptoms of TWNK-Related PEO

Some of the common symptoms of TWNK-related PEO include:

  • Weakness or paralysis of the eye muscles
  • Drooping eyelids (ptosis)
  • Double vision (diplopia)
  • Difficulty in moving the eyes
  • Facial muscle weakness
  • Difficulty in swallowing (dysphagia)
  • Generalized muscle weakness (myopathy)

Diagnosis of TWNK-Related PEO

TWNK-related PEO is diagnosed through genetic testing. Next-generation sequencing (NGS) is a powerful tool used for genetic testing. NGS can analyze multiple genes simultaneously and can detect even small mutations in the DNA. The DNA sample for NGS can be obtained through a blood test or a cheek swab. The cost of the TWNK gene autosomal dominant NGS genetic DNA test is INR 20,000.

Treatment of TWNK-Related PEO

There is no cure for TWNK-related PEO. Treatment options focus on managing the symptoms and improving quality of life. Physical therapy can help improve muscle strength and mobility. Eyeglasses or surgery may be needed to correct vision problems. Speech therapy may be necessary to help with swallowing difficulties.

Conclusion

TWNK-related PEO is a rare genetic disorder that affects the eye muscles and is inherited in an autosomal dominant manner. NGS genetic testing can help diagnose TWNK-related PEO. Although there is no cure, treatment options can help manage the symptoms and improve quality of life. If you suspect that you or a loved one may have TWNK-related PEO, it is important to speak with a genetic counselor or a healthcare provider.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic DNA Test

Frequently Asked Questions

  • What is the cost of TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic DNA Test?

    Cost of TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic DNA Test is 20000 Rs

₹20,000.00 ₹28,000.0028% off

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