CBL Gene Noonan Syndrome-like Disorder with or without Juvenile Meylomonocytic Leukemia NGS Genetic Test: Symptoms, Diagnosis, and Cost
Noonan Syndrome is a genetic disorder that affects various parts of the body, leading to distinct physical features and developmental delays. The disorder is caused by mutations in genes that play a crucial role in regulating cell growth and division. One such gene is the CBL gene, which is associated with Noonan Syndrome-like Disorder with or without Juvenile Meylomonocytic Leukemia (JMML).
What is Noonan Syndrome-like Disorder with or without JMML?
Noonan Syndrome-like Disorder with or without JMML is a rare genetic disorder that shares many features with Noonan Syndrome. It is caused by mutations in the CBL gene, which provides instructions for making a protein that plays a crucial role in regulating cell growth and division. Mutations in the CBL gene can cause abnormal cell growth and division, leading to developmental delays, distinctive facial features, and other health problems.
Some people with Noonan Syndrome-like Disorder with or without JMML also develop a type of blood cancer called Juvenile Meylomonocytic Leukemia (JMML). This cancer affects the bone marrow, leading to the production of too many immature white blood cells. Symptoms of JMML include fever, fatigue, anemia, and infections.
What are the Symptoms of Noonan Syndrome-like Disorder with or without JMML?
The symptoms of Noonan Syndrome-like Disorder with or without JMML can vary widely between individuals. However, some of the most common symptoms include:
- Distinctive facial features, such as widely spaced eyes, a small jaw, and low-set ears
- Developmental delays, including delayed speech and motor skills
- Short stature
- Heart defects
- Eye problems, including strabismus and nystagmus
- Bleeding disorders
- Learning difficulties
- Behavioral problems, such as ADHD and autism spectrum disorder
How is Noonan Syndrome-like Disorder with or without JMML Diagnosed?
Noonan Syndrome-like Disorder with or without JMML is diagnosed through a combination of physical exams, medical history, and genetic testing. A doctor will perform a thorough physical exam to look for distinctive facial features, heart defects, and other symptoms. They may also order imaging tests, such as echocardiograms and X-rays, to look for abnormalities in the heart and other organs.
To confirm a diagnosis of Noonan Syndrome-like Disorder with or without JMML, a doctor will order genetic testing. This typically involves a Next-Generation Sequencing (NGS) DNA test, which can detect mutations in the CBL gene. NGS testing can also detect other genetic mutations that may be contributing to the individual’s symptoms.
What is the Cost of NGS Genetic Testing for Noonan Syndrome-like Disorder with or without JMML?
The cost of NGS Genetic Testing for Noonan Syndrome-like Disorder with or without JMML can vary depending on the testing provider and insurance coverage. At DNA Labs India, the cost of NGS Genetic Testing for Noonan Syndrome-like Disorder with or without JMML is INR 20,000.
Conclusion
Noonan Syndrome-like Disorder with or without JMML is a rare genetic disorder that can cause a range of physical and developmental symptoms. If you or a loved one is experiencing symptoms of Noonan Syndrome-like Disorder with or without JMML, it is important to seek medical attention and consider genetic testing to confirm a diagnosis. NGS Genetic Testing for Noonan Syndrome-like Disorder with or without JMML is available at DNA Labs India at an affordable cost.
Remember, early diagnosis and intervention can help improve outcomes and quality of life for individuals with Noonan Syndrome-like Disorder with or without JMML.
| Test Name | CBL Gene Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Pediatrics |
| Pre-test Information | Clinical History of Patient who is going for CBL Gene Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CBL Gene Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia NGS Genetic Test gene CBL |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for CBL Gene Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CBL Gene Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia NGS Genetic Test gene CBL |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for CBL Gene Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia NGS Genetic Test and the test costs a special discounted price of 20000 INR across India. The cities where this service is available include Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Surat, Pune, Jaipur, Lucknow, Kanpur, Nagpur, Indore, Thane, Bhopal, Visakhapatnam, Pimpri-Chinchwad, Patna, Vadodara, Ghaziabad, Ludhiana, Agra, Nashik, Faridabad, Meerut, Rajkot, Kalyan-Dombivali, Vasai-Virar, Varanasi, Srinagar, Aurangabad, Dhanbad, Amritsar, Navi Mumbai, Prayagraj, Howrah, Ranchi, Jabalpur, Gwalior, Coimbatore, Vijayawada, Jodhpur, Madurai, Raipur, Kota, Guwahati, Chandigarh, Thiruvananthapuram, Solapur, Hubballi-Dharwad, Tiruchirappalli, Tiruppur, Moradabad, Mysore, Bareily, Gurgaon, Aligarh, Jalandhar, Bhubaneswar, Salem, Mira-Bhayandar, Warangal , Guntur , Bhiwandi, Saharanpur, Gorakhpur, Bikaner, Amravati, Noida, Jamshedpur, Bhilai, Cuttack, Firozabad, Kochi, Nellore , Bhavnagar, Dehradun, Durgapur, Asansol, Rourkela, Nanded, Kolhapur, Ajmer, Akola, Gulbarga, Jamnagar, Ujjain, Loni, Siliguri, Jhansi, Ulhasnagar, Jammu, Sangli-Miraj & Kupwad, Mangalore, Erode10, Belgaum, Ambattur, Tirunelveli, Malegaon, Gaya, Jalgaon, Udaipur, Maheshtala, Davanagere, Kozhikode, Kurnool, Rajpur Sonarpur, Rajahmundry , Bokaro, South Dumdum, Bellary, Patiala, Gopalpur, Agartala, Bhagalpur, Muzaffarnagar, Bhatpara, Panihati, Latur, Dhule, Tirupati , Rohtak, Korba, Bhilwara, Berhampur, Muzaffarpur, Ahmednagar, Mathura, Kollam, Avadi, Kadapa, Kamarhati, Sambalpur, Bilaspur, Shahjahanpur, Satara, Bijapur, Rampur, Shivamogga, Chandrapur, Junagadh, Thrissur, Alwar, Bardhaman, Kulti, Kakinada, Nizamabad, Parbhani, Tumkur, Khammam, Ozhukarai, Bihar Sharif, Panipat, Darbhanga, Bally, Aizawl, Dewas, Ichalkaranji, Karnal, Bathinda, Jalna, Eluru, Kirari Suleman Nagar, Barasat, Purnia, Satna, Mau, Sonipat, Farrukhabad, Sagar, Rourkela, Durg, Imphal, Ratlam, Hapur, Arrah, Karimnagar, Anantapur, Etawah, Ambernath, North Dumdum, Bharatpur, Begusarai, New Delhi, Gandhidham, Baranagar, Tiruvottiyur, Puducherry, Sikar, Thoothukudi, Rewa, Mirzapur, Raichur, Pali, Ramagundam , Haridwar, Vijayanagaram, Katihar, Nagarcoil, Sri Ganganagar, Karawal Nagar, Mango, Thanjavur, Bulandshahr, Uluberia, Murwara, Sambhal, Singrauli, Nadiad, Secunderabad, Naihati, Yamunanagar, Bidhan Nagar, Pallavaram, Bidar, Munger, Panchkula, Burhanpur, Raurkela Industrial Township, Kharagpur, Dindigul, Gandhinagar, Hospet, Nangloi Jat, Malda, Ongole, Deoghar, Chapra, Haldia, Khandwa, Nandyal, Chittoor , Morena, Amroha, Anand, Bhind, Bhalswa Jahangir Pur, Madhyamgram, Bhiwani, Navi Mumbai Panvel Raigad, Baharampur, Ambala, Morvi, Fatehpur, Rae Bareli, Khora, Bhusawal, Orai, Bahraich, Vellore, Mahesana, Sambalpur, Raiganj, Sirsa, Danapur, Serampore, Sultan Pur Majra, Guna, Jaunpur, Panvel, Shivpuri, Surendranagar Dudhrej, Unnao, Hugli and Chinsurah, Alappuzha, Kottayam, Machilipatnam, Shimla, Adoni, Tenali, Proddatur, Saharsa, Hindupur, Sasaram, Hajipur, Bhimavaram, Dehri, Madanapalle, Siwan, Bettiah, Guntakal, Srikakulam, Motihari, Dharmavaram, Gudivada, Narasaraopet, Bagaha, Miryalaguda, Tadipatri, Kishanganj, Karaikudi, Suryapet, Jamalpur, Kavali, Tadepalligudem, Amaravati, Buxar, Jehanabad, Aurangabad.
