Short Description

NGS genetic DNA test detecets for variant and mutation detection in TMEM67 gene for Meckel syndrome type 3

PreTest Information

Clinical History of Patient who is going for TMEM67 Gene Meckel syndrome type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM67 Gene Meckel syndrome type 3 NGS Genetic DNA Test gene TMEM67

Detail Description

TMEM67 Gene Meckel Syndrome Type 3 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Meckel syndrome type 3 is a rare genetic disorder that affects various parts of the body, including the brain, kidneys, and liver. It is caused by mutations in the TMEM67 gene and is inherited in an autosomal recessive manner. The disorder is characterized by a combination of features, including brain abnormalities, kidney cysts, and polydactyly.

Symptoms of Meckel Syndrome Type 3

The symptoms of Meckel syndrome type 3 vary depending on the severity of the disorder. Some common symptoms include:

• Brain abnormalities, such as hydrocephalus, which is the buildup of fluid in the brain
• Kidney cysts, which can lead to kidney failure
• Polydactyly, which is the presence of extra fingers or toes
• Facial abnormalities, such as a cleft lip or palate
• Abnormalities of the eyes, such as retinal dystrophy

Diagnosis of Meckel Syndrome Type 3

Meckel syndrome type 3 is diagnosed through genetic testing, such as NGS (next-generation sequencing) of the TMEM67 gene. This test can detect mutations in the gene that are responsible for the disorder. Prenatal diagnosis can also be done through chorionic villus sampling or amniocentesis.

Cost of the TMEM67 Gene Meckel Syndrome Type 3 NGS Genetic DNA Test

In India, the cost of the TMEM67 gene Meckel syndrome type 3 NGS genetic DNA test is around INR 20,000. However, the cost may vary depending on the laboratory or clinic where the test is being conducted. It is important to consult with a genetic counselor or healthcare provider before getting the test done.

Conclusion

Meckel syndrome type 3 is a rare genetic disorder that can cause a range of symptoms affecting various parts of the body. It is caused by mutations in the TMEM67 gene and is inherited in an autosomal recessive manner. Genetic testing, such as NGS of the TMEM67 gene, can help diagnose the disorder. The cost of the test in India is around INR 20,000. If you suspect that you or your child may have Meckel syndrome type 3, it is important to consult with a genetic counselor or healthcare provider for diagnosis and treatment options.