Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC6A5 gene for Hyperekplexia

PreTest Information

Clinical History of Patient who is going for SLC6A5 Gene Hyperekplexia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC6A5 Gene Hyperekplexia

Detail Description

SLC6A5 Gene Hyperekplexia NGS Genetic DNA Test

Hyperekplexia is a rare genetic disorder that causes excessive startle reactions to sudden, unexpected stimuli. This condition is caused by mutations in the SLC6A5 gene, which encodes a protein called the glycine transporter 2 (GlyT2). GlyT2 is responsible for removing glycine, an inhibitory neurotransmitter, from the synapse between nerve cells. Mutations in SLC6A5 result in reduced glycine uptake, leading to increased excitability of the nervous system and exaggerated startle responses.

Symptoms of Hyperekplexia

• Excessive startle reflex
• Rigid muscles
• Stiffness in the limbs
• Frequent falls
• Difficulty feeding and breathing in infants

Diagnosis of Hyperekplexia

Diagnosis of hyperekplexia is based on clinical symptoms and genetic testing. A DNA test can identify mutations in the SLC6A5 gene, confirming a diagnosis of hyperekplexia.

NGS Genetic DNA Test for SLC6A5 Gene Hyperekplexia

DNA Labs India offers NGS Genetic DNA Test for SLC6A5 Gene Hyperekplexia. The test uses Next-Generation Sequencing (NGS) technology to analyze the entire coding region of the SLC6A5 gene, providing a comprehensive analysis of genetic mutations associated with hyperekplexia. The test is highly accurate and reliable, enabling early diagnosis and effective treatment of the condition.

Cost of SLC6A5 Gene Hyperekplexia NGS Genetic DNA Test

The cost of SLC6A5 Gene Hyperekplexia NGS Genetic DNA Test at DNA Labs India is INR 20000. The test includes comprehensive analysis of the SLC6A5 gene, providing accurate results for early diagnosis and effective treatment.

Conclusion

SLC6A5 Gene Hyperekplexia NGS Genetic DNA Test is a highly accurate and reliable test for the diagnosis of hyperekplexia. The test is available at DNA Labs India at an affordable cost of INR 20000. Early diagnosis and effective treatment can help manage the symptoms of hyperekplexia and improve the quality of life of affected individuals.

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 SLC6A5 Gene Hyperekplexia NGS Genetic DNA Test