Short Description

NGS genetic DNA test detecets for variant and mutation detection in ABHD1 gene for Lung alpha-beta hydrolase deficiency type 1

PreTest Information

Clinical History of Patient who is going for ABHD1 Gene Lung alpha-beta hydrolase deficiency type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Lung alpha-beta hydrolase deficiency type 1

Detail Description

DNA Labs India: ABHD1 Gene Lung Alpha-Beta Hydrolase Deficiency Type 1 NGS Genetic DNA Test

ABHD1 gene is responsible for encoding alpha-beta hydrolase enzyme which plays a crucial role in the metabolism of lipids. Lung alpha-beta hydrolase deficiency type 1 is a rare genetic disorder that affects the metabolism of lipids in the body. This disorder is caused by mutations in the ABHD1 gene which results in the deficiency of alpha-beta hydrolase enzyme in the lungs.

Symptoms

The symptoms of lung alpha-beta hydrolase deficiency type 1 are variable and can range from mild to severe. Some of the common symptoms include:

• Shortness of breath
• Wheezing
• Coughing
• Chest pain
• Fatigue
• Weight loss
• Fever

Diagnosis

The diagnosis of lung alpha-beta hydrolase deficiency type 1 can be done through genetic testing. NGS Genetic DNA Test is a highly advanced and accurate testing method that can detect mutations in the ABHD1 gene. The test involves the analysis of DNA samples obtained from blood or saliva. The test can confirm the diagnosis of lung alpha-beta hydrolase deficiency type 1 and help in the management of the disease.

Cost

The cost of NGS Genetic DNA Test for lung alpha-beta hydrolase deficiency type 1 at DNA Labs India is INR 20000. The test is performed by highly skilled and experienced professionals using state-of-the-art equipment. The test results are accurate and reliable, providing valuable information for the diagnosis and management of the disease.

Conclusion

Lung alpha-beta hydrolase deficiency type 1 is a rare genetic disorder that affects the metabolism of lipids in the body. NGS Genetic DNA Test is a highly accurate and reliable testing method that can confirm the diagnosis of the disease. The test is available at DNA Labs India at an affordable cost of INR 20000. Early diagnosis and management of the disease can help in improving the quality of life of the affected individuals.

If you suspect that you or your loved one may be suffering from lung alpha-beta hydrolase deficiency type 1, it is recommended to consult a healthcare professional and get tested for the disease.