Short Description

NGS genetic DNA test detecets for variant and mutation detection in NOTCH2 gene for Alagille syndrome type 2

PreTest Information

Clinical History of Patient who is going for NOTCH2 Gene Alagille syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NOTCH2 Gene Alagille syndrome type 2 NGS Genetic DNA Test gene NOTCH2

Detail Description

NOTCH2 Gene Alagille Syndrome Type 2 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Alagille Syndrome is a rare genetic disorder that affects multiple organs in the body. It is caused by mutations in the NOTCH2 gene, which plays a crucial role in the development of organs such as the liver, heart, and kidneys. Alagille Syndrome is also known as Alagille Syndrome type 2, because it is caused by mutations in the NOTCH2 gene.

Symptoms of Alagille Syndrome

Alagille Syndrome can cause a wide range of symptoms, which can vary in severity from mild to life-threatening. Some of the most common symptoms of Alagille Syndrome include:

• Jaundice (yellowing of the skin and eyes)
• Pale stools and dark urine
• Poor growth and weight gain
• Itchy skin
• Heart murmur or other heart abnormalities
• Butterfly-shaped vertebrae
• Eye abnormalities
• Facial features that are distinctive

Diagnosis of Alagille Syndrome

Alagille Syndrome can be difficult to diagnose, because the symptoms can be similar to those of other liver and heart conditions. A diagnosis of Alagille Syndrome is usually based on a combination of clinical features and genetic testing.

Genetic testing is the most reliable way to diagnose Alagille Syndrome. The NOTCH2 gene can be analyzed using a Next Generation Sequencing (NGS) genetic test, which can detect mutations in the gene. The cost of an NGS genetic DNA test for Alagille Syndrome in India is typically around INR 20,000.

Conclusion

Alagille Syndrome is a rare genetic disorder that can cause a wide range of symptoms. It is caused by mutations in the NOTCH2 gene, which can be detected using a Next Generation Sequencing (NGS) genetic test. If you suspect that you or your child may have Alagille Syndrome, it is important to speak with a healthcare professional and consider genetic testing to get a proper diagnosis.

For more information on genetic testing for Alagille Syndrome or other genetic disorders, contact DNA Labs India.