Short Description

NGS genetic DNA test detecets for variant and mutation detection in LMNA gene for Heart-hand syndrome, Slovenian type

PreTest Information

Clinical History of Patient who is going for LMNA Gene Heart-hand syndrome, Slovenian type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LMNA Gene Heart-hand syndrome, Slovenian type NGS Genetic DNA Test gene LMNA

Detail Description

LMNA Gene Heart-hand syndrome, Slovenian type - NGS Genetic DNA Test

Heart-hand syndrome is a rare genetic disorder that affects the development of the heart and hands. There are several types of heart-hand syndrome, one of which is the Slovenian type, which is caused by mutations in the LMNA gene.

The LMNA gene provides instructions for making a protein called lamin A/C. This protein is found in the nucleus of cells and helps maintain the structure of the nuclear envelope, which surrounds the cell's genetic material. Mutations in the LMNA gene can lead to the production of abnormal lamin A/C proteins, which can disrupt the normal functioning of cells.

Symptoms

Heart-hand syndrome, Slovenian type is characterized by abnormalities in the heart and hands. The following are some of the symptoms of this condition:

• Heart defects, such as atrial septal defects and ventricular septal defects
• Abnormalities of the fingers and hands, such as missing fingers, webbed fingers, or extra fingers
• Short stature
• Intellectual disability

Diagnosis

Heart-hand syndrome, Slovenian type can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a type of genetic test that can analyze multiple genes at once, making it an efficient and cost-effective method of testing. NGS can detect mutations in the LMNA gene, which can confirm a diagnosis of heart-hand syndrome, Slovenian type.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for heart-hand syndrome, Slovenian type is INR 20,000. This cost includes the analysis of multiple genes and the interpretation of results by a genetic counselor.

At DNA Labs India, we offer NGS genetic DNA testing for a wide range of genetic disorders, including heart-hand syndrome, Slovenian type. Our tests are performed using state-of-the-art technology and are interpreted by experienced genetic counselors. We are committed to providing accurate and reliable genetic testing services at an affordable cost.

If you or a loved one is experiencing symptoms of heart-hand syndrome, Slovenian type, we encourage you to speak with your healthcare provider about genetic testing. Early diagnosis and management of this condition can help improve outcomes and quality of life.

Contact DNA Labs India today to learn more about our NGS genetic DNA testing services.

Conclusion

Heart-hand syndrome, Slovenian type is a rare genetic disorder that can affect the development of the heart and hands. Genetic testing, such as NGS, can help diagnose this condition and inform treatment decisions. At DNA Labs India, we offer affordable and reliable NGS genetic DNA testing for heart-hand syndrome, Slovenian type and other genetic disorders. Contact us today to learn more.