Short Description

NGS genetic DNA test detecets for variant and mutation detection in EDNRB gene for Waardenburg syndrome/Hirschsprung disease

PreTest Information

Clinical History of Patient who is going for EDNRB Gene Waardenburg syndrome/Hirschsprung disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EDNRB Gene Waardenburg syndrome/Hirschsprung disease

Detail Description

EDNRB Gene Waardenburg syndrome/Hirschsprung disease NGS Genetic DNA Test

Waardenburg syndrome is a rare genetic disorder that affects the pigmentation of the eyes, hair, and skin. It is caused by mutations in several different genes, including the EDNRB gene. Hirschsprung disease, on the other hand, is a condition that affects the large intestine and causes problems with bowel movements. It is also caused by mutations in the same gene.

Symptoms of Waardenburg syndrome and Hirschsprung disease

The symptoms of Waardenburg syndrome can vary, but typically include:

• Pale blue eyes or different colored eyes
• White or patchy hair
• Very pale skin
• Hearing loss
• Cleft lip or palate
• Abnormalities in the shape of the nose
• Abnormalities in the shape of the face

The symptoms of Hirschsprung disease can include:

• Constipation
• Abdominal distension
• Failure to pass meconium (the first bowel movement) within the first 48 hours of life
• Vomiting

Diagnosis of Waardenburg syndrome and Hirschsprung disease

Diagnosis of Waardenburg syndrome and Hirschsprung disease typically involves a physical examination and a review of the patient's medical history. Genetic testing can also be used to confirm a diagnosis.

EDNRB Gene NGS Genetic DNA Test

The EDNRB Gene NGS Genetic DNA Test is a type of genetic test that can detect mutations in the EDNRB gene. This test can be used to diagnose Waardenburg syndrome and Hirschsprung disease.

Cost of the EDNRB Gene NGS Genetic DNA Test

The cost of the EDNRB Gene NGS Genetic DNA Test in India is approximately INR 20,000.

Conclusion

If you or a loved one are experiencing symptoms of Waardenburg syndrome or Hirschsprung disease, it is important to seek medical attention as soon as possible. A genetic test such as the EDNRB Gene NGS Genetic DNA Test can help to confirm a diagnosis and guide treatment decisions.

At DNA Labs India, we offer a wide range of genetic testing services, including the EDNRB Gene NGS Genetic DNA Test. Contact us today to learn more.