Noonan – RASopathies Panel NGS Genetic Test
Cost: 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 Noonan – RASopathies 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
Test Details
The Noonan – RASopathies Panel NGS Genetic DNA Test is a genetic test that analyzes specific genes associated with RASopathies, a group of genetic disorders characterized by abnormalities in the RAS-MAPK signaling pathway. This pathway is involved in cell growth and differentiation, and mutations in these genes can lead to a variety of clinical features, including developmental delay, heart defects, short stature, and distinctive facial features.
The panel includes genes such as PTPN11, SOS1, RAF1, and KRAS, which are commonly associated with Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, and other related disorders. The test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of these genes and identify any mutations or variants that may be causing the patient’s symptoms.
The Noonan – RASopathies Panel NGS Genetic DNA Test is typically ordered by a healthcare provider who suspects that a patient may have a RASopathy based on their clinical presentation. The test can help confirm a diagnosis, identify the specific type of RASopathy, and inform treatment and management decisions. It can also be used for carrier testing and prenatal diagnosis in families with a known RASopathy mutation.
Test Name | Noonan – RASophathies Panel NGS Genetic DNA 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 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 |
Test Details |
The Noonan – RASopathies Panel NGS Genetic DNA Test is a genetic test that analyzes specific genes associated with RASopathies, a group of genetic disorders characterized by abnormalities in the RAS-MAPK signaling pathway. This pathway is involved in cell growth and differentiation, and mutations in these genes can lead to a variety of clinical features, including developmental delay, heart defects, short stature, and distinctive facial features. The panel includes genes such as PTPN11, SOS1, RAF1, and KRAS, which are commonly associated with Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, and other related disorders. The test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of these genes and identify any mutations or variants that may be causing the patient’s symptoms. The Noonan – RASopathies Panel NGS Genetic DNA Test is typically ordered by a healthcare provider who suspects that a patient may have a RASopathy based on their clinical presentation. The test can help confirm a diagnosis, identify the specific type of RASopathy, and inform treatment and management decisions. It can also be used for carrier testing and prenatal diagnosis in families with a known RASopathy mutation. |