Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYCS gene for Thrombocytopenia type 4

PreTest Information

Clinical History of Patient who is going for CYCS Gene Thrombocytopenia type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CYCS Gene Thrombocytopenia type 4 NGS Genetic DNA Test gene CYCS

Detail Description

CYCS Gene Thrombocytopenia Type 4 NGS Genetic DNA Test

Thrombocytopenia is a medical condition that occurs when a person has a low platelet count. Platelets are small blood cells that help in clotting and preventing excessive bleeding. Thrombocytopenia can be caused due to various reasons, including genetic disorders. One of the genetic disorders that can cause thrombocytopenia is CYCS Gene Thrombocytopenia Type 4.

What is CYCS Gene Thrombocytopenia Type 4?

CYCS Gene Thrombocytopenia Type 4 is a rare genetic disorder that is caused due to mutations in the CYCS gene. The CYCS gene provides instructions for making a protein called cytochrome c, which is involved in the process of producing energy in cells. Mutations in this gene can cause a decrease in the number of platelets, leading to thrombocytopenia.

Symptoms of CYCS Gene Thrombocytopenia Type 4

The symptoms of CYCS Gene Thrombocytopenia Type 4 can vary from person to person. Some of the common symptoms include:

• Easy bruising
• Excessive bleeding
• Nosebleeds
• Heavy menstrual bleeding
• Bleeding gums
• Petechiae (small red or purple spots on the skin)

Diagnosis of CYCS Gene Thrombocytopenia Type 4

CYCS Gene Thrombocytopenia Type 4 can be diagnosed through a genetic test. The test uses Next-Generation Sequencing (NGS) technology to analyze the DNA sequence of the CYCS gene. The test can detect any mutations in the gene that may be causing thrombocytopenia.

Cost of CYCS Gene Thrombocytopenia Type 4 NGS Genetic DNA Test

The cost of the CYCS Gene Thrombocytopenia Type 4 NGS Genetic DNA Test in India is approximately INR 20,000.

Conclusion

CYCS Gene Thrombocytopenia Type 4 is a rare genetic disorder that can cause thrombocytopenia. It can be diagnosed through a genetic test using NGS technology. If you or a loved one is experiencing symptoms of thrombocytopenia, it is important to consult a doctor and get tested for the disorder.

Thrombocytopenia type 4, also known as autosomal dominant thrombocytopenia 4, is a rare genetic disorder characterized by a low platelet count (thrombocytopenia). It is caused by mutations in the CYCS gene. The CYCS gene encodes a protein called cytochrome c, which plays a role in the electron transport chain within cells' mitochondria.

Mitochondria are the energy-producing structures within cells, and they have functions beyond energy production, including roles in apoptosis (programmed cell death) and cellular stress responses. Mutations in the CYCS gene can disrupt the normal function of cytochrome c, potentially affecting cellular processes and contributing to the development of thrombocytopenia.

Next-Generation Sequencing (NGS) is a powerful genetic testing technique that allows for the rapid sequencing of DNA. It is often used to identify mutations or variations in specific genes associated with genetic disorders like thrombocytopenia type 4. By analyzing an individual's DNA, NGS can detect genetic changes that might be responsible for the condition.

Diagnosing thrombocytopenia type 4 involves genetic testing, typically through NGS, to identify mutations in the CYCS gene. It's important to work with medical geneticists or healthcare professionals who specialize in genetics to interpret the results and provide appropriate guidance.

If you suspect that you or someone you know might have thrombocytopenia type 4 or any other genetic disorder, it's important to consult with a medical professional. They can guide you through the diagnostic process, provide genetic counseling, and discuss management options if a diagnosis is confirmed. Keep in mind that medical information is subject to updates, so consulting reliable medical sources and experts is essential.