LARGE1 Gene Muscular dystrophy type 1D 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:
Neurological Disorders
Doctor:
Neurologist
Test Department:
Genetics
Pre Test Information:
Clinical History of Patient who is going for LARGE1 Gene Muscular dystrophy type 1D NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LARGE1 Gene Muscular dystrophy type 1D.
Test Details:
The LARGE1 gene is associated with a form of muscular dystrophy known as type 1D. This genetic test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the LARGE1 gene and identify any variations or mutations that may be present.
Muscular dystrophy type 1D is a rare genetic disorder characterized by progressive muscle weakness and wasting. It is caused by mutations in the LARGE1 gene, which is involved in the production of a protein called LARGE. This protein plays a role in the structure and function of muscle cells.
NGS genetic testing for LARGE1 gene mutations can help diagnose muscular dystrophy type 1D and provide valuable information about the specific genetic cause of the condition. This can be important for determining appropriate treatment options, predicting disease progression, and providing genetic counseling to affected individuals and their families.
During the NGS genetic test, a sample of DNA is extracted, usually from a blood sample, and subjected to sequencing using advanced technology. The DNA sequence of the LARGE1 gene is then compared to a reference sequence to identify any variations or mutations that may be present. If a mutation is found in the LARGE1 gene, it can confirm a diagnosis of muscular dystrophy type 1D. The specific mutation identified can also provide information about the severity of the condition and help guide treatment decisions.
It is important to note that this genetic test specifically targets the LARGE1 gene and is not a comprehensive genetic screening for all types of muscular dystrophy or other genetic conditions. It is typically ordered by a healthcare professional specializing in genetic disorders and may be recommended based on an individual’s symptoms, family history, or other clinical indications.
Overall, the LARGE1 gene muscular dystrophy type 1D NGS genetic test is a valuable tool for diagnosing and managing this specific form of muscular dystrophy, providing important genetic information to guide treatment and counseling decisions.
| Test Name | LARGE1 Gene Muscular dystrophy type 1D Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for LARGE1 Gene Muscular dystrophy type 1D NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with LARGE1 Gene Muscular dystrophy type 1D |
| Test Details |
The LARGE1 gene is associated with a form of muscular dystrophy known as type 1D. This genetic test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the LARGE1 gene and identify any variations or mutations that may be present. Muscular dystrophy type 1D is a rare genetic disorder characterized by progressive muscle weakness and wasting. It is caused by mutations in the LARGE1 gene, which is involved in the production of a protein called LARGE. This protein plays a role in the structure and function of muscle cells. NGS genetic testing for LARGE1 gene mutations can help diagnose muscular dystrophy type 1D and provide valuable information about the specific genetic cause of the condition. This can be important for determining appropriate treatment options, predicting disease progression, and providing genetic counseling to affected individuals and their families. During the NGS genetic test, a sample of DNA is extracted, usually from a blood sample, and subjected to sequencing using advanced technology. The DNA sequence of the LARGE1 gene is then compared to a reference sequence to identify any variations or mutations that may be present. If a mutation is found in the LARGE1 gene, it can confirm a diagnosis of muscular dystrophy type 1D. The specific mutation identified can also provide information about the severity of the condition and help guide treatment decisions. It is important to note that this genetic test specifically targets the LARGE1 gene and is not a comprehensive genetic screening for all types of muscular dystrophy or other genetic conditions. It is typically ordered by a healthcare professional specializing in genetic disorders and may be recommended based on an individual’s symptoms, family history, or other clinical indications. Overall, the LARGE1 gene muscular dystrophy type 1D NGS genetic test is a valuable tool for diagnosing and managing this specific form of muscular dystrophy, providing important genetic information to guide treatment and counseling decisions. |
