Short Description

NGS genetic DNA test detecets for variant and mutation detection in FAM111A gene for Kenny-Caffey syndrome type 2

PreTest Information

Clinical History of Patient who is going for FAM111A Gene Kenny-Caffey syndrome type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FAM111A Gene Kenny-Caffey syndrome type 2

Detail Description

FAM111A Gene Kenny-Caffey Syndrome Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Kenny-Caffey syndrome type 2 is a rare genetic disorder that affects bone growth and development. It is caused by mutations in the FAM111A gene, which provides instructions for making a protein that is involved in cell division and growth. This syndrome is also known as dwarfism-thrombocytopenia syndrome.

Symptoms of Kenny-Caffey Syndrome Type 2

The symptoms of Kenny-Caffey syndrome type 2 can vary widely, even among family members who have the same genetic mutation. Some of the most common symptoms include:

• Short stature
• Small head size
• Low levels of calcium in the blood
• Low platelet count
• Delayed tooth eruption
• Intellectual disability
• Increased risk of infections

Diagnosis of Kenny-Caffey Syndrome Type 2

Diagnosing Kenny-Caffey syndrome type 2 can be challenging, as the symptoms can be similar to other genetic disorders. However, genetic testing can help confirm a diagnosis. The FAM111A gene can be sequenced using next-generation sequencing (NGS) technology, which allows for rapid and accurate analysis of DNA sequences.

NGS Genetic DNA Test Cost for Kenny-Caffey Syndrome Type 2

The cost of NGS genetic DNA testing for Kenny-Caffey syndrome type 2 can vary depending on the laboratory performing the test. At DNA Labs India, the cost of this test is INR 20,000. This includes sequencing of the FAM111A gene and interpretation of the results by a team of experienced genetic counselors and medical professionals.

Benefits of NGS Genetic DNA Testing

NGS genetic DNA testing offers several benefits for patients and healthcare providers. It is a fast and accurate way to diagnose genetic disorders, which can help guide treatment decisions and improve patient outcomes. NGS testing can also help identify carriers of genetic mutations, which can be important information for family planning.

Conclusion

Kenny-Caffey syndrome type 2 is a rare genetic disorder that can cause a variety of symptoms, including short stature, low calcium levels, and intellectual disability. Genetic testing using NGS technology can help diagnose this condition and provide important information for patient care and family planning. At DNA Labs India, we offer affordable and accurate NGS genetic DNA testing for Kenny-Caffey syndrome type 2.

Contact us today to learn more about our testing services.

Note: This blog post is for informational purposes only and should not be used as a substitute for medical advice from a qualified healthcare professional.

Keywords: Kenny-Caffey syndrome type 2, FAM111A gene, next-generation sequencing, genetic testing, DNA Labs India

Meta Description: Learn about the symptoms, diagnosis, and NGS genetic DNA test cost for Kenny-Caffey syndrome type 2, a rare genetic disorder caused by mutations in the FAM111A gene.

Title Tag: Kenny-Caffey Syndrome Type 2 NGS Genetic DNA Test Cost INR:20000 | DNA Labs India

Kenny-Caffey syndrome type 2, also known as Kenny-Caffey syndrome with intellectual disability, is a rare genetic disorder characterized by various physical and developmental features. Mutations in the FAM111A gene are associated with this condition.

The FAM111A gene provides instructions for producing a protein that plays a role in various cellular processes, including bone development and brain function. Mutations in this gene can lead to the features associated with Kenny-Caffey syndrome type 2, which may include growth delays, intellectual disability, skeletal abnormalities, and other developmental issues.

An NGS (Next-Generation Sequencing) genetic DNA test for the FAM111A gene involves sequencing the DNA to identify any mutations or variations within the gene that could be linked to Kenny-Caffey syndrome type 2. This testing can help diagnose the condition and identify individuals who carry mutations in the FAM111A gene.

If you suspect that you or someone you know may have Kenny-Caffey syndrome type 2 or if there's a family history of the condition, it's important to consult with a healthcare professional, such as a geneticist or a pediatrician. They can guide you through the genetic testing process, interpret the results, and provide appropriate recommendations for management and treatment based on the specific genetic findings.