Short Description

NGS genetic DNA test detecets for variant and mutation detection in KCNQ1OT1 gene for Beckwith-Wiedemann syndrome

PreTest Information

Clinical History of Patient who is going for KCNQ1OT1 Gene Beckwith-Wiedemann syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KCNQ1OT1 Gene Beckwith-Wiedemann syndrome NGS Genetic DNA Test gene KCNQ1OT1

Detail Description

KCNQ1OT1 Gene and Beckwith-Wiedemann Syndrome: Understanding NGS Genetic DNA Test Cost and Symptoms Diagnosis

Beckwith-Wiedemann syndrome is a rare genetic disorder that affects around 1 in 13,700 individuals worldwide. The syndrome is characterized by excessive growth, abnormalities in the abdominal wall, and an increased risk of developing certain cancers. One of the genes associated with Beckwith-Wiedemann syndrome is KCNQ1OT1. In this blog, we will discuss the role of KCNQ1OT1 gene in Beckwith-Wiedemann syndrome, the NGS genetic DNA test cost, and symptoms diagnosis.

KCNQ1OT1 Gene and Beckwith-Wiedemann Syndrome

The KCNQ1OT1 gene is located on chromosome 11 and is involved in the regulation of gene expression. This gene is imprinted, which means that only one copy of the gene is active, and the other copy is silenced. Mutations in the KCNQ1OT1 gene can lead to abnormal gene expression, which can result in Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome can be inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the syndrome. However, in around 85% of cases, the syndrome occurs sporadically, without any family history.

NGS Genetic DNA Test Cost

Next-generation sequencing (NGS) is a powerful tool for identifying mutations in genes associated with genetic disorders such as Beckwith-Wiedemann syndrome. NGS tests can analyze multiple genes simultaneously, making it a cost-effective and time-efficient way to diagnose genetic disorders.

The cost of NGS genetic DNA testing in India can vary depending on the laboratory and the specific test being performed. However, the average cost of NGS genetic DNA testing for Beckwith-Wiedemann syndrome in India is around INR 20,000.

Symptoms Diagnosis

Diagnosing Beckwith-Wiedemann syndrome can be challenging because the symptoms can vary widely among affected individuals. However, there are some common symptoms that doctors may look for when diagnosing the syndrome. These include:

• Macroglossia (enlarged tongue)
• Abdominal wall defects (such as omphalocele or umbilical hernia)
• Overgrowth of one side of the body (hemihyperplasia)
• Hypoglycemia (low blood sugar) in newborns
• Increased risk of certain cancers (such as Wilms tumor or hepatoblastoma)

If a doctor suspects that a person has Beckwith-Wiedemann syndrome, they may order genetic testing to confirm the diagnosis. NGS genetic DNA testing can be used to analyze the KCNQ1OT1 gene and other genes associated with the syndrome.

Conclusion

Beckwith-Wiedemann syndrome is a rare genetic disorder that can cause a range of symptoms, including excessive growth, abdominal wall defects, and an increased risk of certain cancers. The KCNQ1OT1 gene is one of the genes associated with the syndrome. NGS genetic DNA testing can be used to diagnose Beckwith-Wiedemann syndrome, and the average cost of testing in India is around INR 20,000. If you suspect that you or a loved one may have Beckwith-Wiedemann syndrome, it is important to speak with a doctor or genetic counselor to discuss testing options and treatment options.

At DNA Labs India, we offer a range of genetic tests, including NGS genetic DNA testing for Beckwith-Wiedemann syndrome. Contact us today to learn more about our services and how we can help you.

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 KCNQ1OT1 Gene Beckwith-Wiedemann syndrome NGS Genetic DNA Test