DNA Labs India: KDM6A Gene Kabuki Syndrome Type 2 NGS Genetic Test
Kabuki syndrome type 2 is a rare genetic disorder that affects multiple body systems. It is caused by mutations in the KDM6A gene. DNA Labs India offers a Next Generation Sequencing (NGS) Genetic Test to diagnose Kabuki syndrome type 2 and identify mutations in the KDM6A gene. The test is available at a cost of INR 20,000.
Symptoms of Kabuki Syndrome Type 2
Kabuki syndrome type 2 is characterized by a distinctive facial appearance, developmental delays, intellectual disability, and other physical abnormalities. The following are some of the common symptoms of Kabuki syndrome type 2:
- Abnormalities in the shape and positioning of the eyes
- Long eyelashes
- Large, prominent ears
- A small, upturned nose
- Cleft palate or other mouth abnormalities
- Short stature
- Heart defects
- Seizures
Diagnosis of Kabuki Syndrome Type 2
Kabuki syndrome type 2 is diagnosed based on a combination of clinical features and genetic testing. Clinical features may include the characteristic facial appearance, developmental delays, and other physical abnormalities. Genetic testing, such as the NGS Genetic Test offered by DNA Labs India, can identify mutations in the KDM6A gene.
The KDM6A Gene
The KDM6A gene provides instructions for making a protein called lysine-specific demethylase 6A. This protein is involved in the regulation of gene expression, which is the process by which genes are turned on and off. Mutations in the KDM6A gene can disrupt this process, leading to the development of Kabuki syndrome type 2.
NGS Genetic Test for Kabuki Syndrome Type 2
The NGS Genetic Test offered by DNA Labs India is a comprehensive genetic test that can identify mutations in the KDM6A gene. The test uses state-of-the-art sequencing technology to analyze the entire coding region of the gene. The test is performed on a small blood sample and typically takes 2-3 weeks for results to be delivered.
Cost of the NGS Genetic Test
The cost of the NGS Genetic Test for Kabuki syndrome type 2 at DNA Labs India is INR 20,000. This includes the cost of the test and genetic counseling services to help patients and their families understand the results of the test.
Conclusion
Kabuki syndrome type 2 is a rare genetic disorder caused by mutations in the KDM6A gene. DNA Labs India offers a Next Generation Sequencing (NGS) Genetic Test to diagnose Kabuki syndrome type 2 and identify mutations in the KDM6A gene. The test is available at a cost of INR 20,000 and includes genetic counseling services to help patients and their families understand the results of the test.
If you or a loved one are experiencing symptoms of Kabuki syndrome type 2, it is important to seek medical attention and consider genetic testing. Contact DNA Labs India for more information about the NGS Genetic Test and other genetic testing services.
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 KDM6A Gene Kabuki syndrome type 2 NGS Genetic Test
| Test Name | KDM6A Gene Kabuki syndrome type 2 NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Test type | Neurologist |
| Pre-test Information | Clinical History of Patient who is going for KDM6A Gene Kabuki syndrome type 2 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with KDM6A Gene Kabuki syndrome type 2 |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for KDM6A Gene Kabuki syndrome type 2 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with KDM6A Gene Kabuki syndrome type 2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for KDM6A Gene Kabuki syndrome type 2 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.
