Short Description

NGS genetic DNA test detecets for variant and mutation detection in FBN1 gene for Marfan lipodystrophy syndrome

PreTest Information

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

Detail Description

FBN1 Gene Marfan Lipodystrophy Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Marfan lipodystrophy syndrome is a rare genetic disorder that affects the connective tissues in the body. It is caused by mutations in the FBN1 gene which provides instructions for making a protein called fibrillin-1. This protein helps to give strength and elasticity to the connective tissues in the body, including the bones, cartilage, tendons, and ligaments.

Marfan lipodystrophy syndrome can affect different parts of the body, including the heart, eyes, lungs, and skeleton. The severity of the symptoms can vary widely, even among people with the same genetic mutation. Some people may have mild symptoms, while others may have severe symptoms that can be life-threatening.

Symptoms of Marfan Lipodystrophy Syndrome

• Tall and thin body type
• Long arms, legs, and fingers
• Curvature of the spine
• Flat feet
• Loose joints and hypermobility
• Stretch marks on the skin that are not related to weight gain or loss
• Heart problems, such as aortic aneurysm or mitral valve prolapse
• Vision problems, such as nearsightedness, dislocated lenses, or early cataracts
• Lung problems, such as collapsed lung or emphysema
• Problems with the dura, the lining of the spinal cord and brain

Diagnosis of Marfan Lipodystrophy Syndrome

Marfan lipodystrophy syndrome is diagnosed based on the presence of certain physical features, as well as genetic testing. A doctor may perform a physical exam to check for characteristic signs of the syndrome, such as long limbs and fingers, a curved spine, or stretch marks on the skin. They may also order imaging tests, such as an echocardiogram or a CT scan, to check for heart or lung problems.

Genetic testing can confirm the diagnosis of Marfan lipodystrophy syndrome. At DNA Labs India, we offer NGS genetic DNA testing for FBN1 gene mutations. This test can detect mutations in the FBN1 gene with high accuracy, allowing for an early and accurate diagnosis of Marfan lipodystrophy syndrome.

NGS Genetic DNA Test Cost INR:20000

The NGS genetic DNA test for FBN1 gene mutations is available at DNA Labs India for a cost of INR 20000. This test is performed using the latest Next Generation Sequencing (NGS) technology, which allows for fast and accurate detection of genetic mutations. The test is non-invasive and requires only a simple blood or saliva sample.

If you suspect that you or a family member may have Marfan lipodystrophy syndrome, it is important to seek medical advice and consider genetic testing. Early diagnosis and treatment can help to prevent or manage the complications associated with this rare genetic disorder.