Short Description

NGS genetic DNA test detecets for variant and mutation detection in FBN1 gene for Acromicric dysplasia

PreTest Information

Clinical History of Patient who is going for FBN1 Gene Acromicric dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FBN1 Gene Acromicric dysplasia NGS Genetic DNA Test gene FBN1

Detail Description

FBN1 Gene Acromicric Dysplasia NGS Genetic DNA Test

FBN1 Gene Acromicric Dysplasia is a rare genetic disorder that affects bone growth. It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. This protein is essential for the formation of elastic fibers in connective tissues throughout the body.

Symptoms of FBN1 Gene Acromicric Dysplasia include:

• Short stature
• Small hands and feet
• Joint stiffness and pain
• Thickened skin
• Respiratory problems

Diagnosis of FBN1 Gene Acromicric Dysplasia is typically done through genetic testing. DNA Labs India offers NGS Genetic DNA Test for FBN1 Gene Acromicric Dysplasia at a cost of INR 20,000. This test uses Next-Generation Sequencing (NGS) technology to analyze the FBN1 gene and identify any mutations that may be causing the disorder.

If you suspect that you or a loved one may have FBN1 Gene Acromicric Dysplasia, it is important to speak with a healthcare professional. Early diagnosis and treatment can help manage symptoms and improve quality of life.

Acromicric dysplasia is a rare genetic disorder that affects bone and connective tissue development, leading to distinctive physical features and skeletal abnormalities. Mutations in the FBN1 gene have been associated with this condition.

The FBN1 gene provides instructions for producing fibrillin-1, a protein that is essential for the formation of microfibrils, which are important components of connective tissues like the skin, bones, and blood vessels. Mutations in the FBN1 gene can disrupt the structure and function of microfibrils, leading to the symptoms observed in acromicric dysplasia.

An NGS (Next-Generation Sequencing) genetic DNA test for the FBN1 gene involves sequencing the DNA to identify any mutations or variations within the gene that could be linked to acromicric dysplasia. This testing can help diagnose the condition and identify individuals who carry mutations in the FBN1 gene.

If you suspect that you or someone you know may have acromicric dysplasia or if there's a family history of the condition, it's important to consult with 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.