Short Description

NGS genetic DNA test detecets for variant and mutation detection in ELN gene for Cutis laxa, autosomal dominant

PreTest Information

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

Detail Description

ELN Gene Cutis Laxa: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

ELN Gene Cutis Laxa is a rare genetic disorder that affects the elastic fibers of the skin, lungs, and blood vessels. It is caused by mutations in the ELN gene, which provides instructions for making a protein called elastin. This protein is essential for the elasticity and resilience of various tissues in the body.

Symptoms of ELN Gene Cutis Laxa

The symptoms of ELN Gene Cutis Laxa can vary widely depending on the severity and type of mutation. Some common symptoms include:

• Loose, sagging skin
• Wrinkles and folds on the face and body
• Prominent veins and arteries
• Breathing difficulties
• Abnormalities in the heart and blood vessels
• Joint hypermobility
• Delayed development and growth
• Intellectual disability

ELN Gene Cutis Laxa is classified into several types based on the age of onset, severity, and associated symptoms. The most severe form is known as De Barsy Syndrome, which is characterized by facial abnormalities, cataracts, and developmental delay.

Diagnosis of ELN Gene Cutis Laxa

ELN Gene Cutis Laxa is diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. A doctor may suspect the condition based on the physical features and medical history of the patient. Genetic testing can confirm the diagnosis by identifying mutations in the ELN gene. Imaging studies such as echocardiogram and CT scan may be used to evaluate the extent of organ involvement.

NGS Genetic DNA Test Cost in India

NGS or Next Generation Sequencing is a powerful tool for genetic testing that allows for rapid and accurate analysis of the entire genome. It can identify mutations in multiple genes associated with a particular disorder, including ELN Gene Cutis Laxa.

The cost of NGS genetic DNA testing for ELN Gene Cutis Laxa in India varies depending on the laboratory and the specific test panel used. On average, the cost can range from INR 20,000 to INR 50,000. Some laboratories may offer discounts for bulk testing or insurance coverage.

Conclusion

ELN Gene Cutis Laxa is a rare genetic disorder that can cause significant physical and developmental abnormalities. Early diagnosis through genetic testing and clinical evaluation can help in managing the symptoms and improving the quality of life for affected individuals. NGS genetic DNA testing is a powerful tool for identifying mutations associated with the disorder and can be availed at a cost-effective price in India.

If you suspect that you or your loved one may have ELN Gene Cutis Laxa, it is important to consult a genetic counselor or medical specialist for further evaluation and advice.