Short Description

List of genes tested using NGS technology for detection of variant and mutation in Noonan - RASophathies Panel are BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, TSC1, TSC2

PreTest Information

Clinical History of Patient who is going for Noonan - RASophathies Panel NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, TSC1, TSC2

Detail Description

Noonan - RASophathies Panel NGS Genetic DNA Test

Are you or a loved one experiencing symptoms such as short stature, learning difficulties, or heart defects? These could be signs of Noonan syndrome or related RASopathies, which are genetic conditions caused by mutations in the RAS-MAPK pathway.

At DNA Labs India, we offer a Noonan - RASophathies Panel NGS Genetic DNA Test that can help diagnose these conditions. This test uses Next-Generation Sequencing (NGS) technology to analyze a panel of genes associated with Noonan syndrome and related disorders, including:

• Noonan syndrome
• Cardiofaciocutaneous syndrome
• Costello syndrome
• Legius syndrome
• Neurofibromatosis type 1
• And more

The cost of this test is INR 20,000, and it can provide valuable information for patients and their families. Early diagnosis can lead to better management of symptoms and improved outcomes.

Symptoms of Noonan syndrome and related RASopathies

Noonan syndrome and related RASopathies can present with a wide range of symptoms, which can vary in severity and onset. Some common symptoms include:

• Short stature
• Heart defects
• Learning difficulties
• Distinctive facial features
• Increased risk of cancer
• And more

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 is appropriate.

Diagnosis of Noonan syndrome and related RASopathies

Diagnosis of Noonan syndrome and related RASopathies can be challenging due to the variability of symptoms and the overlap with other conditions. Genetic testing can be a valuable tool in making an accurate diagnosis.

The Noonan - RASophathies Panel NGS Genetic DNA Test offered by DNA Labs India can help identify mutations in genes associated with Noonan syndrome and related disorders. This can provide valuable information for healthcare providers and patients, leading to better management of symptoms and improved outcomes.

Conclusion

Noonan syndrome and related RASopathies can be challenging to diagnose due to the variability of symptoms. However, genetic testing can be a valuable tool in identifying mutations associated with these conditions. The Noonan - RASophathies Panel NGS Genetic DNA Test offered by DNA Labs India can provide valuable information for patients and their families, leading to better management of symptoms and improved outcomes.

If you or a loved one is experiencing symptoms associated with Noonan syndrome or related RASopathies, speak with a healthcare provider to determine if genetic testing is appropriate.

Contact DNA Labs India today to schedule your Noonan - RASophathies Panel NGS Genetic DNA Test.