KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Kabuki syndrome type 1 is a rare genetic disorder that affects multiple parts of the body. It is caused by mutations in the KMT2D gene, which provides instructions for making a protein that helps control the activity of other genes. People with Kabuki syndrome type 1 have distinctive facial features, developmental delays, and intellectual disability.
Symptoms of Kabuki Syndrome Type 1
The symptoms of Kabuki syndrome type 1 can vary widely from person to person. Some of the most common symptoms include:
- Distinctive facial features, such as arched eyebrows, long eyelashes, and a flattened nasal bridge
- Developmental delays, including delayed speech and motor skills
- Intellectual disability
- Hearing loss
- Heart defects
- Short stature
- Skeletal abnormalities
Diagnosis of Kabuki Syndrome Type 1
The diagnosis of Kabuki syndrome type 1 is usually made based on clinical features and genetic testing. A doctor may suspect Kabuki syndrome type 1 based on a child’s facial features and developmental delays. Genetic testing can confirm the diagnosis by identifying mutations in the KMT2D gene.
NGS Genetic Test for Kabuki Syndrome Type 1
A next-generation sequencing (NGS) Genetic Test can be used to diagnose Kabuki syndrome type 1. This test looks for mutations in the KMT2D gene using a sample of the patient’s blood or saliva. The test is highly accurate and can detect mutations that may be missed by other genetic tests.
Cost of NGS Genetic Test for Kabuki Syndrome Type 1
The cost of an NGS Genetic Test for Kabuki syndrome type 1 in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and any additional services that may be required.
Conclusion
Kabuki syndrome type 1 is a rare genetic disorder that can have a significant impact on a person’s health and development. Early diagnosis and treatment can help manage symptoms and improve outcomes. If you suspect that your child may have Kabuki syndrome type 1, talk to your doctor about genetic testing options and the cost of NGS Genetic Testing in India.
At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic Testing for Kabuki syndrome type 1. Contact us today to learn more about our services and how we can help you and your family.
Test Name | KMT2D Gene Kabuki syndrome type 1 NGS Genetic Test |
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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 KMT2D Gene Kabuki syndrome type 1 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KMT2D Gene Kabuki syndrome type 1 NGS Genetic Test gene KMT2D |
Disease | Dysmorphology |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for KMT2D Gene Kabuki syndrome type 1 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KMT2D Gene Kabuki syndrome type 1 NGS Genetic Test gene KMT2D |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for KMT2D Gene Kabuki syndrome type 1 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.