Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC30A10 gene for Hypermanganesemia with dystonia, polycythemia and cirrhosis

PreTest Information

Clinical History of Patient who is going for SLC30A10 Gene Hypermanganesemia with dystonia, polycythemia and cirrhosis NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hypermanganesemia with dystonia, polycythemia and cirrhosis

Detail Description

SLC30A10 Gene Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis NGS Genetic DNA Test

SLC30A10 gene hypermanganesemia with dystonia, polycythemia, and cirrhosis is a rare genetic disorder that causes excessive accumulation of manganese in the body. This condition is caused by mutations in the SLC30A10 gene, which is responsible for regulating manganese levels in the body. The excessive accumulation of manganese can lead to a wide range of symptoms, including dystonia, polycythemia, and cirrhosis.

Symptoms

The symptoms of SLC30A10 gene hypermanganesemia with dystonia, polycythemia, and cirrhosis can vary widely depending on the severity of the condition. Some of the most common symptoms include:

• Dystonia
• Polycythemia
• Cirrhosis
• Seizures
• Speech difficulties
• Developmental delays
• Behavioral changes
• Cognitive impairment

Diagnosis

Diagnosing SLC30A10 gene hypermanganesemia with dystonia, polycythemia, and cirrhosis can be challenging. Doctors will typically perform a physical exam and review the patient's medical history to determine if there are any underlying conditions that may be causing the symptoms. Blood tests can also be used to measure manganese levels in the body. In some cases, genetic testing may be necessary to confirm a diagnosis.

NGS Genetic DNA Test

NGS genetic DNA testing is a powerful tool that can be used to identify genetic mutations associated with SLC30A10 gene hypermanganesemia with dystonia, polycythemia, and cirrhosis. This test uses next-generation sequencing technology to analyze the patient's DNA and identify any mutations in the SLC30A10 gene. The cost of the NGS genetic DNA test for SLC30A10 gene hypermanganesemia with dystonia, polycythemia, and cirrhosis is INR 20,000.

Treatment

There is currently no cure for SLC30A10 gene hypermanganesemia with dystonia, polycythemia, and cirrhosis. Treatment is focused on managing the symptoms and preventing complications. Medications can be used to control seizures, muscle spasms, and other symptoms. In some cases, surgery may be necessary to correct problems caused by cirrhosis or other complications.

Conclusion

SLC30A10 gene hypermanganesemia with dystonia, polycythemia, and cirrhosis is a rare genetic disorder that can cause a wide range of symptoms. If you or a loved one is experiencing any of the symptoms associated with this condition, it is important to speak with a doctor as soon as possible. With early diagnosis and appropriate treatment, it is possible to manage the symptoms and prevent complications.

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 SLC30A10 Gene Hypermanganesemia with dystonia, polycythemia and cirrhosis NGS Genetic DNA Test