Test Name	PANK2 Gene Pantothenate kinase-associated neurodegeneration NGS Genetic DNA Test
Test type	Neurologist
Pre-test Information	Clinical History of Patient who is going for PANK2 Gene Pantothenate kinase-associated neurodegeneration NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PANK2 Gene Pantothenate kinase-associated neurodegeneration
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

Short Description

NGS genetic DNA test detecets for variant and mutation detection in PANK2 gene for Pantothenate kinase-associated neurodegeneration

PreTest Information

Clinical History of Patient who is going for PANK2 Gene Pantothenate kinase-associated neurodegeneration NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PANK2 Gene Pantothenate kinase-associated neurodegeneration

Detail Description

Understanding PANK2 Gene and Pantothenate Kinase-Associated Neurodegeneration

What is PANK2 Gene?

PANK2 gene is a gene that is responsible for producing an enzyme called pantothenate kinase. This enzyme is involved in the synthesis of coenzyme A (CoA), which is essential for the metabolism of fatty acids, carbohydrates, and proteins.

What is Pantothenate Kinase-Associated Neurodegeneration (PKAN)?

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the PANK2 gene, which leads to a deficiency of the pantothenate kinase enzyme. The symptoms of PKAN usually appear in childhood and are progressive in nature. The severity of the disease varies widely, but it can lead to severe disability and premature death.

What are the Symptoms of PKAN?

The symptoms of PKAN can vary depending on the age of onset and the severity of the disease. Some of the common symptoms of PKAN include:

• Dystonia (involuntary muscle contractions)
• Rigidity
• Tremors
• Speech difficulties
• Difficulty swallowing
• Vision problems
• Cognitive decline
• Behavioral problems

How is PKAN Diagnosed?

PKAN can be diagnosed through a combination of clinical evaluation, neuroimaging, and genetic testing. Neuroimaging studies such as MRI can show characteristic changes in the brain that are associated with PKAN. Genetic testing can confirm the diagnosis by identifying mutations in the PANK2 gene. Next-generation sequencing (NGS) genetic DNA tests are commonly used for this purpose.

What is the Cost of PKAN NGS Genetic DNA Test?

The cost of PKAN NGS genetic DNA test can vary depending on the testing laboratory and the location. In India, the cost of PKAN NGS genetic DNA test is approximately INR 20,000.

Conclusion

PKAN is a rare genetic disorder that can cause severe disability and premature death. Early diagnosis and treatment can help to improve the quality of life of affected individuals. NGS genetic DNA testing is an effective tool for diagnosing PKAN and other genetic disorders. If you suspect that you or your child may have PKAN, it is important to consult with a healthcare professional as soon as possible.

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 PANK2 Gene Pantothenate kinase-associated neurodegeneration NGS Genetic DNA Test