Short Description

NGS genetic DNA test detecets for variant and mutation detection in CPLANE1 gene for Orofaciodigital syndrome type 6

PreTest Information

Clinical History of Patient who is going for CPLANE1 Gene Orofaciodigital syndrome type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CPLANE1 Gene Orofaciodigital syndrome type 6 NGS Genetic DNA Test gene CPLANE1

Detail Description

CPLANE1 Gene Orofaciodigital Syndrome Type 6 NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Orofaciodigital syndrome (OFD) is a rare genetic disorder that affects the development of the face, hands, and feet. There are 13 different types of OFD, each caused by a different gene mutation. OFD type 6 is caused by mutations in the CPLANE1 gene. DNA Labs India offers a Next-Generation Sequencing (NGS) Genetic DNA Test for CPLANE1 gene mutations at a cost of INR 20,000.

Symptoms of OFD Type 6

The symptoms of OFD type 6 can vary widely from person to person, even among family members. Some common symptoms include:

• Abnormalities in the shape and size of the skull
• Cleft lip and/or palate
• Extra fingers or toes
• Abnormalities in the structure and function of the kidneys
• Abnormalities in the structure and function of the eyes

Other symptoms may include hearing loss, intellectual disability, and developmental delays.

Diagnosis of OFD Type 6

Diagnosis of OFD type 6 begins with a physical examination and a review of the patient's medical history. Genetic testing is also used to confirm a diagnosis. DNA Labs India offers a Next-Generation Sequencing (NGS) Genetic DNA Test for CPLANE1 gene mutations at a cost of INR 20,000.

NGS is a powerful tool that can analyze multiple genes at once, allowing for a faster and more comprehensive diagnosis. This test is non-invasive and requires only a small blood sample. Results are typically available within 2-3 weeks.

Cost of NGS Genetic DNA Test

The cost of the NGS Genetic DNA Test for CPLANE1 gene mutations is INR 20,000. This includes the cost of the test itself, as well as the consultation with a genetic counselor to discuss the results.

While this may seem like a high cost, it is important to remember that genetic testing can provide valuable information that can help with diagnosis and treatment. It can also provide important information for family planning.

Conclusion

OFD type 6 is a rare genetic disorder that can have a wide range of symptoms. Diagnosis typically involves a physical examination and genetic testing. DNA Labs India offers a Next-Generation Sequencing (NGS) Genetic DNA Test for CPLANE1 gene mutations at a cost of INR 20,000. While this may seem like a high cost, it is important to remember that genetic testing can provide valuable information that can help with diagnosis and treatment.

If you or someone you know is experiencing symptoms of OFD type 6, speak with a healthcare provider about the possibility of genetic testing.

For more information on genetic testing, visit the DNA Labs India website.