Short Description

NGS genetic DNA test detecets for variant and mutation detection in P4HB gene for Cole-Carpenter syndrome type 1

PreTest Information

Clinical History of Patient who is going for P4HB Gene Cole-Carpenter syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with P4HB Gene Cole-Carpenter syndrome type 1 NGS Genetic DNA Test gene P4HB

Detail Description

DNA Labs India: P4HB Gene Cole-Carpenter Syndrome Type 1 NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

Cole-Carpenter syndrome is a rare genetic disorder that affects the bones, skin, and eyes. It is caused by a mutation in the P4HB gene, which is responsible for producing a protein called prolyl 4-hydroxylase beta subunit. This protein is important for the formation and stability of collagen, which is a structural component of many tissues in the body.

Symptoms of Cole-Carpenter Syndrome Type 1

The symptoms of Cole-Carpenter syndrome type 1 can vary depending on the severity of the condition. Some of the common symptoms include:

• Abnormal bone development
• Thin and fragile skin
• Easy bruising
• Small head size
• Abnormal facial features
• Eye problems, such as nearsightedness and cataracts

These symptoms may be present at birth or may develop later in life.

Diagnosis of Cole-Carpenter Syndrome Type 1

The diagnosis of Cole-Carpenter syndrome type 1 is typically made through a combination of physical examination, medical history, and genetic testing. A genetic test can detect a mutation in the P4HB gene, which confirms the diagnosis.

NGS Genetic DNA Test Cost INR 20000

DNA Labs India offers a Next-Generation Sequencing (NGS) genetic DNA test for Cole-Carpenter syndrome type 1. The cost of this test is INR 20000. NGS is a powerful technology that can analyze multiple genes at once, providing a comprehensive analysis of a patient's genetic makeup. This test can detect mutations in the P4HB gene, which can confirm the diagnosis of Cole-Carpenter syndrome type 1.

Conclusion

Cole-Carpenter syndrome type 1 is a rare genetic disorder that affects the bones, skin, and eyes. The diagnosis of this condition can be confirmed through genetic testing, such as the NGS genetic DNA test offered by DNA Labs India. The cost of this test is INR 20000. If you or a loved one is experiencing symptoms of Cole-Carpenter syndrome type 1, it is important to seek medical attention and consider genetic testing for an accurate diagnosis.

For more information about DNA Labs India and the NGS genetic DNA test for Cole-Carpenter syndrome type 1, visit their website or contact them directly.