Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC2A1 gene for Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia

PreTest Information

Clinical History of Patient who is going for SLC2A1 Gene Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC2A1 Gene Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia

Detail Description

SLC2A1 Gene Paroxysmal Exercise-Induced Dyskinesia with Epilepsy and/or Hemolytic Anemia NGS Genetic DNA Test

Paroxysmal exercise-induced dyskinesia (PED) with epilepsy and/or hemolytic anemia is a rare genetic disorder that affects the SLC2A1 gene. This condition is characterized by episodes of involuntary movements that are triggered by exercise or other physical activity. The movements usually affect the arms and legs, but can also involve the face and trunk. Some people with PED may also experience seizures and/or hemolytic anemia, which is a condition where red blood cells are destroyed faster than they can be produced.

Symptoms

The symptoms of PED with epilepsy and/or hemolytic anemia can vary from person to person, but some common signs include:

• Involuntary movements that are triggered by exercise or other physical activity
• Seizures
• Hemolytic anemia
• Weakness or fatigue
• Difficulty walking or balancing
• Speech difficulties
• Cognitive impairment

Diagnosis

PED with epilepsy and/or hemolytic anemia is typically diagnosed through genetic testing. A Next Generation Sequencing (NGS) DNA test can identify mutations in the SLC2A1 gene that are associated with this condition. This test can also be used to determine if other family members are at risk of developing PED.

Cost

The cost of an NGS genetic DNA test for PED with epilepsy and/or hemolytic anemia is INR 20,000 in India. This cost may vary depending on the testing facility and any additional services that may be required.

Conclusion

Overall, PED with epilepsy and/or hemolytic anemia is a rare genetic disorder that can significantly impact a person's quality of life. However, with early diagnosis and proper treatment, individuals with this condition can manage their symptoms and lead fulfilling lives. If you or a loved one are experiencing any of the symptoms associated with PED, it is important to speak with a healthcare professional and consider genetic testing to determine the underlying cause.

At DNA Labs India, we offer high-quality NGS genetic DNA testing services for PED with epilepsy and/or hemolytic anemia at an affordable cost. Contact us today to learn more about our testing options and how we can help you get the answers you need.

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 SLC2A1 Gene Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia NGS Genetic DNA Test