LMNA Gene Mandibuloacral dysplasia Genetic Test
Test Components
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Dysmorphology
- Doctor: Pediatrics
- Test Department: Genetics
Pre Test Information
Clinical History of Patient who is going for LMNA Gene Mandibuloacral dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LMNA Gene Mandibuloacral dysplasia NGS Genetic DNA Test gene LMNA.
Test Details
The LMNA gene is responsible for producing the lamin A/C proteins, which are essential for maintaining the structure and function of the cell nucleus. Mutations in the LMNA gene can lead to a group of rare genetic disorders known as laminopathies.
Mandibuloacral dysplasia (MAD) is one such laminopathy that is characterized by a range of symptoms including skeletal abnormalities, skin changes, and lipodystrophy. It is an autosomal recessive disorder, meaning that both copies of the LMNA gene must have a mutation for the condition to be present.
Next-generation sequencing (NGS) is a genetic testing method that allows for the simultaneous analysis of multiple genes, including the LMNA gene. It is a highly efficient and cost-effective method for identifying mutations in genes associated with genetic disorders.
NGS genetic testing for mandibuloacral dysplasia involves sequencing the LMNA gene to identify any disease-causing mutations. This can help in confirming a diagnosis, providing information on disease prognosis, and guiding treatment options. It can also be used for carrier testing in individuals with a family history of the condition.
It is important to consult with a genetic counselor or healthcare professional before undergoing any genetic testing to understand the benefits, limitations, and potential implications of the test results.
| Test Name | LMNA Gene Mandibuloacral dysplasia Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Dysmorphology |
| Doctor | Pediatrics |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for LMNA Gene Mandibuloacral dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LMNA Gene Mandibuloacral dysplasia NGS Genetic DNA Test gene LMNA |
| Test Details |
The LMNA gene is responsible for producing the lamin A/C proteins, which are essential for maintaining the structure and function of the cell nucleus. Mutations in the LMNA gene can lead to a group of rare genetic disorders known as laminopathies. Mandibuloacral dysplasia (MAD) is one such laminopathy that is characterized by a range of symptoms including skeletal abnormalities, skin changes, and lipodystrophy. It is an autosomal recessive disorder, meaning that both copies of the LMNA gene must have a mutation for the condition to be present. Next-generation sequencing (NGS) is a genetic testing method that allows for the simultaneous analysis of multiple genes, including the LMNA gene. It is a highly efficient and cost-effective method for identifying mutations in genes associated with genetic disorders. NGS genetic testing for mandibuloacral dysplasia involves sequencing the LMNA gene to identify any disease-causing mutations. This can help in confirming a diagnosis, providing information on disease prognosis, and guiding treatment options. It can also be used for carrier testing in individuals with a family history of the condition. It is important to consult with a genetic counselor or healthcare professional before undergoing any genetic testing to understand the benefits, limitations, and potential implications of the test results. |
