Short Description

NGS genetic DNA test detecets for variant and mutation detection in KMT2A gene for Wiedemann-Steiner syndrome

PreTest Information

Clinical History of Patient who is going for KMT2A Gene Wiedemann-Steiner syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KMT2A Gene Wiedemann-Steiner syndrome NGS Genetic DNA Test gene KMT2A

Detail Description

KMT2A Gene Wiedemann-Steiner Syndrome NGS Genetic DNA Test

Wiedemann-Steiner Syndrome (WSS) is a rare genetic disorder that affects various parts of the body. It is caused by mutations in the KMT2A gene, which encodes a protein that is involved in the regulation of gene expression. WSS is characterized by developmental delay, intellectual disability, hypertrichosis (excessive hair growth), distinctive facial features, and skeletal anomalies.

Symptoms

• Developmental delay
• Intellectual disability
• Hypertrichosis (excessive hair growth)
• Distinctive facial features
• Skeletal anomalies

Diagnosis

WSS is diagnosed through genetic testing, which can identify mutations in the KMT2A gene. Next-generation sequencing (NGS) is a powerful tool for genetic testing, as it can analyze multiple genes simultaneously and detect rare mutations that may be missed by other methods. At DNA Labs India, we offer NGS-based genetic testing for WSS at an affordable cost of INR 20,000.

Treatment

There is no cure for WSS, and treatment is aimed at managing the symptoms. This may include physical therapy, speech therapy, and educational interventions for intellectual disability. Regular monitoring by a healthcare professional is also important to address any new symptoms or complications that may arise.

Conclusion

Wiedemann-Steiner Syndrome is a rare genetic disorder caused by mutations in the KMT2A gene. It is characterized by developmental delay, intellectual disability, hypertrichosis, distinctive facial features, and skeletal anomalies. NGS-based genetic testing is an effective method for diagnosing WSS, and DNA Labs India offers this test at an affordable cost of INR 20,000. Although there is no cure for WSS, managing the symptoms through physical therapy, speech therapy, and educational interventions can improve the quality of life for 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 KMT2A Gene Wiedemann-Steiner syndrome NGS Genetic DNA Test