POMK Gene Limb-girdle Muscular Dystrophy, Autosomal Recessive Type 12C NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Limb-girdle muscular dystrophy (LGMD) is a group of rare genetic disorders that affect the muscles in the hip and shoulder areas, leading to muscle weakness and wasting. One of the types of LGMD is the autosomal recessive type 12C, which is caused by mutations in the POMK gene. The POMK gene provides instructions for making a protein that is involved in the normal development and maintenance of muscle fibers.
Symptoms of POMK Gene Limb-girdle Muscular Dystrophy
The symptoms of POMK gene limb-girdle muscular dystrophy, autosomal recessive type 12C, usually appear in childhood or adolescence, although they can also begin in adulthood. Some of the common symptoms include:
- Muscle weakness and wasting in the hip and shoulder areas
- Difficulty climbing stairs, getting up from a chair, or lifting objects
- Difficulty standing or walking for long periods of time
- Toe walking
- Loss of muscle mass
- Contractures (abnormal shortening of muscles or tendons)
- Cardiac and respiratory involvement in some cases
Diagnosis of POMK Gene Limb-girdle Muscular Dystrophy
Diagnosis of POMK gene limb-girdle muscular dystrophy, autosomal recessive type 12C, is done through genetic testing. A DNA sample is taken from the patient, usually through a blood sample, and analyzed for mutations in the POMK gene. Next-generation sequencing (NGS) is a common genetic testing method used to identify mutations in the POMK gene.
Cost of POMK Gene Limb-girdle Muscular Dystrophy NGS Genetic Test
The cost of POMK gene limb-girdle muscular dystrophy NGS Genetic Test in India is approximately INR 20,000. The cost may vary depending on the testing facility and the location.
Conclusion
POMK gene limb-girdle muscular dystrophy, autosomal recessive type 12C, is a rare genetic disorder that affects the muscles in the hip and shoulder areas. Genetic testing using NGS is the most effective way to diagnose this condition. The cost of the test may vary depending on the testing facility, but it is an important step in identifying and managing this condition.
At DNA Labs India, we provide NGS genetic testing services for POMK gene limb-girdle muscular dystrophy and other genetic disorders. Our state-of-the-art testing facility and experienced genetic counselors ensure accurate and timely diagnosis of genetic disorders. Contact us today to learn more about our 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 POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C NGS Genetic Test
| Test Name | POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C 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 POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C 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.
