MYO18B Gene Klippel-Feil Syndrome Type 4: Symptoms, Diagnosis, and NGS Genetic Test Cost
Klippel-Feil Syndrome (KFS) is a rare genetic disorder characterized by the fusion of cervical vertebrae, leading to a short neck and restricted head movement. KFS can be caused by mutations in several genes, including the MYO18B gene. MYO18B-related KFS is a type 4 autosomal dominant disorder that is associated with myopathy and facial dysmorphism.
Symptoms
The symptoms of MYO18B-related KFS can vary in severity and presentation. Some individuals may have mild symptoms, while others may have more significant disabilities. Common symptoms of MYO18B-related KFS include:
- Short neck
- Limited head movement
- Facial asymmetry
- Low hairline
- Abnormalities of the vertebrae
- Weakness and wasting of the muscles
Diagnosis
MYO18B-related KFS is diagnosed through genetic testing, specifically Next Generation Sequencing (NGS) technology. NGS allows for the simultaneous analysis of multiple genes, making it a more efficient and cost-effective method of genetic testing. NGS can identify mutations in the MYO18B gene, which confirms the diagnosis of MYO18B-related KFS.
NGS testing for MYO18B-related KFS can be performed on a blood or saliva sample. The sample is sent to a laboratory for analysis, and results are typically available within a few weeks.
NGS Genetic Test Cost
The cost of NGS testing for MYO18B-related KFS varies depending on the laboratory and the location. In India, the cost of NGS testing for MYO18B-related KFS is typically around INR 20,000.
NGS testing for MYO18B-related KFS may be covered by insurance, depending on the policy and the specific laboratory used. Patients should check with their insurance provider and the laboratory to determine coverage and potential out-of-pocket costs.
Conclusion
MYO18B-related KFS is a rare genetic disorder that can cause significant physical disabilities. NGS genetic testing is an efficient and cost-effective way to diagnose MYO18B-related KFS. The cost of NGS testing in India is typically around INR 20,000. Patients should consult with their healthcare provider and insurance provider to determine if NGS testing is appropriate for their situation and to determine coverage and potential out-of-pocket costs.
At DNA Labs India, we offer NGS genetic testing for MYO18B-related KFS. Our state-of-the-art laboratory and experienced team ensure accurate and reliable results. Contact us today to learn more about our services and to schedule your NGS genetic testing.
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 MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism NGS Genetic Test
| Test Name | MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism 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 MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism NGS Genetic Test gene MYO18B |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism NGS Genetic Test gene MYO18B |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism 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.
