Short Description

NGS genetic DNA test detecets for variant and mutation detection in EFEMP2 gene for Cutis laxa type 1B, autosomal recessive

PreTest Information

Clinical History of Patient who is going for EFEMP2 Gene Cutis laxa type 1B, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EFEMP2 Gene Cutis laxa type 1B, autosomal recessive NGS Genetic DNA Test gene EFEMP2

Detail Description

EFEMP2 Gene Cutis Laxa Type 1B: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost INR 20,000

EFEMP2 Gene Cutis Laxa Type 1B is a rare genetic disorder that affects the connective tissue in the body. This disorder is caused by mutations in the EFEMP2 gene, which provides instructions for making a protein called fibulin-4. Fibulin-4 is important for the elasticity and strength of the connective tissue. When mutations occur in the EFEMP2 gene, it leads to the production of a non-functional fibulin-4 protein, which causes the connective tissue to become loose and saggy. This results in a range of symptoms, including:

• Loose, saggy skin
• Wrinkles on the face and body
• Poor wound healing
• Joint problems
• Respiratory problems
• Eye problems

EFEMP2 Gene Cutis Laxa Type 1B is an autosomal recessive disorder, which means that a person must inherit two copies of the mutated EFEMP2 gene (one from each parent) to develop the disorder. If both parents carry one copy of the mutated gene, there is a 25% chance with each pregnancy that their child will inherit two copies and develop the disorder.

Diagnosis

Diagnosing EFEMP2 Gene Cutis Laxa Type 1B can be challenging, as the symptoms can be similar to other connective tissue disorders. A clinical examination and a family history can provide clues to the diagnosis. Genetic testing is necessary to confirm the diagnosis. Next-Generation Sequencing (NGS) Genetic DNA Test is the most reliable method of genetic testing, as it can identify mutations in the EFEMP2 gene with high accuracy. The cost of NGS Genetic DNA Test for EFEMP2 Gene Cutis Laxa Type 1B in India is INR 20,000.

Treatment

There is currently no cure for EFEMP2 Gene Cutis Laxa Type 1B, and treatment is focused on managing the symptoms. Treatment options may include:

• Surgery to remove excess skin
• Physical therapy to improve joint mobility
• Respiratory support, such as oxygen therapy
• Eye exams and treatment for vision problems
• Pain management

Conclusion

EFEMP2 Gene Cutis Laxa Type 1B is a rare genetic disorder that affects the connective tissue in the body. It can cause a range of symptoms, including loose and saggy skin, poor wound healing, and respiratory problems. Diagnosis is confirmed through genetic testing, and treatment is focused on managing the symptoms. NGS Genetic DNA Test is the most reliable method of genetic testing, and the cost in India is INR 20,000.