Short Description

NGS genetic DNA test detecets for variant and mutation detection in TGFBR1 gene for Loeys-Dietz syndrome type 1A

PreTest Information

Clinical History of Patient who is going for TGFBR1 Gene Loeys-Dietz syndrome type 1A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TGFBR1 Gene Loeys-Dietz syndrome type 1A NGS Genetic DNA Test gene TGFBR1

Detail Description

TGFBR1 Gene: Loeys-Dietz Syndrome Type 1A NGS Genetic DNA Test

Loeys-Dietz Syndrome (LDS) is a rare genetic disorder that affects the connective tissues in the body. It is caused by mutations in the TGFBR1 gene, which provides instructions for making a protein that is involved in cell signaling. LDS can cause a range of symptoms, including aortic aneurysms, craniofacial abnormalities, and skeletal abnormalities.

If you or a loved one has been diagnosed with LDS, it is important to understand the genetic basis of the condition. The TGFBR1 gene can be tested using next-generation sequencing (NGS) technology to identify mutations that may be contributing to the disorder.

NGS Genetic DNA Test for TGFBR1 Gene

The NGS Genetic DNA Test for the TGFBR1 gene is a diagnostic tool that can help identify mutations in the gene that may be contributing to LDS. The test involves analyzing a sample of DNA from the patient, typically obtained through a blood or saliva sample. The DNA is then sequenced using NGS technology, which can identify variations in the gene sequence that may be contributing to the disorder.

The NGS test is highly sensitive and can detect even small variations in the gene sequence. This makes it an effective tool for identifying mutations that may be contributing to LDS. However, it is important to note that not all mutations in the TGFBR1 gene will necessarily cause LDS. Therefore, it is important to work with a qualified genetic counselor or healthcare provider to interpret the results of the test.

Symptoms of Loeys-Dietz Syndrome

LDS can cause a range of symptoms that can vary in severity from person to person. Some common symptoms of LDS include:

• Aortic aneurysms or dissections
• Craniofacial abnormalities, such as a cleft palate or hypertelorism (widely spaced eyes)
• Skeletal abnormalities, such as scoliosis or joint hypermobility
• Easy bruising or skin that is thin or translucent
• Arterial tortuosity or narrowing of the blood vessels

If you or a loved one is experiencing any of these symptoms, it is important to speak with a healthcare provider to determine if genetic testing may be appropriate.

Diagnosis of Loeys-Dietz Syndrome

Diagnosing LDS can be challenging, as the symptoms can be highly variable and may not be present in all individuals with the disorder. However, a diagnosis of LDS may be considered if a patient has a combination of the following:

• Two or more of the major diagnostic criteria
• One major diagnostic criterion and one or more minor diagnostic criteria
• One major diagnostic criterion and a confirmed pathogenic mutation in the TGFBR1 or TGFBR2 gene

Some of the major diagnostic criteria for LDS include:

• Aortic aneurysm or dissection at a young age
• Craniofacial abnormalities, such as hypertelorism or cleft palate
• Arterial tortuosity or narrowing of the blood vessels
• Skeletal abnormalities, such as scoliosis or joint hypermobility

If LDS is suspected, genetic testing may be recommended to confirm a diagnosis and identify potential mutations that may be contributing to the disorder.

Cost of the NGS Genetic DNA Test for TGFBR1 Gene

The cost of the NGS Genetic DNA Test for the TGFBR1 gene can vary depending on a number of factors, including the location of the testing facility and the specific details of the test. In India, the cost of the test is typically around INR 20,000. However, it is important to check with the testing facility to determine the exact cost of the test and any associated fees.

Conclusion

The NGS Genetic DNA Test for the TGFBR1 gene is a powerful diagnostic tool that can help identify mutations that may be contributing to Loeys-Dietz Syndrome. If you or a loved one is experiencing symptoms of LDS, it is important to speak with a healthcare provider to determine if genetic testing may be appropriate. By identifying potential mutations that may be contributing to the disorder, patients and healthcare providers can develop a more targeted treatment plan and improve overall outcomes.

At DNA Labs India, we offer a range of genetic testing services, including the NGS Genetic DNA Test for the TGFBR1 gene. Our team of experienced genetic counselors and healthcare professionals can help guide you through the testing process and interpret the results of the test. Contact us today to learn more about our services and how we can help you.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TGFBR1 Gene Loeys-Dietz syndrome type 1A NGS Genetic DNA Test