MYOTONIC DYSTROPHY COMPREHENSIVE PROFILE Test: Symptoms, Diagnosis and Cost
Myotonic dystrophy is a genetic disorder that affects the muscles and other body systems. It is caused by a mutation in the DMPK gene, which leads to the production of abnormal proteins that interfere with muscle function. This disorder is characterized by muscle weakness, myotonia (delayed relaxation of muscles), and other symptoms that vary in severity.
The Myotonic Dystrophy Comprehensive Profile Test is a diagnostic tool used to identify the presence of this disorder. It involves a series of tests that evaluate muscle strength, muscle tone, and other factors that may indicate myotonic dystrophy. This test can help healthcare professionals make an accurate diagnosis and develop an effective treatment plan.
Symptoms of Myotonic Dystrophy
The symptoms of myotonic dystrophy can vary widely depending on the severity of the disorder. Some of the most common symptoms include:
- Muscle weakness and wasting
- Myotonia (delayed relaxation of muscles)
- Cataracts
- Heart problems
- Breathing difficulties
- Difficulty swallowing
- Speech problems
- Intellectual disability
- Behavioral problems
These symptoms can appear at any age, but they typically develop in adulthood. The severity of symptoms tends to worsen over time.
Diagnosis of Myotonic Dystrophy
Diagnosing myotonic dystrophy can be challenging, as the symptoms can be similar to those of other muscle and neurological disorders. The Myotonic Dystrophy Comprehensive Profile Test is one tool that healthcare professionals can use to aid in the diagnosis of this disorder.
The test involves a physical examination, a review of the patient’s medical history, and a series of tests to evaluate muscle strength, muscle tone, and other factors that may indicate myotonic dystrophy. The test may also include genetic testing to identify the presence of the DMPK gene mutation that causes this disorder.
Cost of Myotonic Dystrophy Comprehensive Profile Test
The cost of the Myotonic Dystrophy Comprehensive Profile Test in India is INR 11,000. This cost may vary depending on the healthcare facility where the test is performed.
Conclusion
The Myotonic Dystrophy Comprehensive Profile Test is an important tool for healthcare professionals in the diagnosis of myotonic dystrophy. This disorder can be challenging to diagnose, and this test can help healthcare professionals make an accurate diagnosis and develop an effective treatment plan. If you or a loved one is experiencing symptoms of myotonic dystrophy, speak with your healthcare provider about whether this test may be appropriate for you.
For more information on genetic testing and diagnostic services, contact DNA Labs India. Our team of healthcare professionals is dedicated to providing accurate and timely diagnoses to help improve patient outcomes.
Myotonic dystrophy is an autosomal dominant disorder characterized mainly by muscular dystrophy cataracts, hypogonadism, frontal balding, and ECG changes. Myotonic dystrophy Type 2 (DM2), is rare and generally manifests with milder signs and symptoms than DM1.
| Test Name | Myotonic Dystrophy Comprehensive Profile Test |
|---|---|
| Sample type | 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
| Test type | Neurologist |
| Pre-test Information | Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
| Disease | Neurologic Disorder |
| Method | PCR, Fragment Analysis |
| Purpose | *DMPK Gene *ZFN9 Gene |
| Preparation | Room Temperature: 6 hrs, Refrigerator:1 week, Frozen: NA |
| Fasting | Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
| Get Reports | Sample Mon by 11 am; Report Fri |
| Test Price | INR ₹ 11000 |
Note: We offer free home sample collection for online bookings for Myotonic Dystrophy Comprehensive Profile Test and the test costs a special discounted price of 11000 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.
