Short Description

NGS genetic DNA test detecets for variant and mutation detection in CDKN1C gene for Beckwith-Wiedemann syndrome

PreTest Information

Clinical History of Patient who is going for CDKN1C Gene Beckwith-Wiedemann syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CDKN1C Gene Beckwith-Wiedemann syndrome NGS Genetic DNA Test gene CDKN1C

Detail Description

CDKN1C Gene Beckwith-Wiedemann Syndrome NGS Genetic DNA Test

Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that affects around 1 in 13,700 newborns worldwide. The disorder is characterized by overgrowth, abdominal wall defects, and an increased risk of childhood cancer. CDKN1C gene mutations have been identified as one of the causes of BWS.

Symptoms of Beckwith-Wiedemann Syndrome

BWS is a complex disorder, and symptoms can vary significantly from one person to another. Some of the most common symptoms of BWS include:

• Macrosomia (large body size)
• Abdominal wall defects
• Hypoglycemia (low blood sugar)
• Ear creases or pits
• Tongue enlargement or protrusion
• Visceral organomegaly (enlarged organs)
• Hemihypertrophy (asymmetrical growth of one side of the body)
• Increased risk of childhood cancer

Diagnosis of Beckwith-Wiedemann Syndrome

BWS can be diagnosed through a combination of clinical examination and genetic testing. Clinical examination may involve physical examination, imaging studies, and blood tests. Genetic testing can help confirm the diagnosis and identify the specific genetic mutation responsible for the disorder.

CDKN1C Gene and Beckwith-Wiedemann Syndrome

CDKN1C is a gene located on chromosome 11p15.5 that plays a crucial role in regulating cell growth and division. Mutations in this gene have been identified as a cause of BWS. CDKN1C mutations are usually inherited in an autosomal dominant pattern, which means that a person only needs one copy of the mutated gene to develop the disorder.

NGS Genetic DNA Test for Beckwith-Wiedemann Syndrome

Next-generation sequencing (NGS) is a powerful genetic testing technology that can analyze multiple genes simultaneously. NGS testing can be used to identify CDKN1C mutations in individuals suspected of having BWS. The test involves collecting a blood or saliva sample from the patient and analyzing the DNA for mutations in the CDKN1C gene.

Cost of NGS Genetic DNA Test for Beckwith-Wiedemann Syndrome

The cost of NGS genetic DNA testing for Beckwith-Wiedemann syndrome in India is around INR 20,000. The cost may vary depending on the testing facility and the specific tests performed.

Conclusion

Beckwith-Wiedemann Syndrome is a rare genetic disorder that can have significant health implications. CDKN1C gene mutations have been identified as one of the causes of the disorder. NGS genetic DNA testing can be used to identify CDKN1C mutations and confirm the diagnosis of BWS. The cost of NGS testing for BWS in India is around INR 20,000. Early diagnosis and appropriate management can help improve the long-term outcomes for individuals with BWS.

If you suspect that you or a loved one may have BWS, it is essential to speak with a healthcare professional who can provide an accurate diagnosis and appropriate treatment. DNA Labs India offers comprehensive genetic testing services, including NGS testing for BWS. Contact us today to learn more.