LBR Gene Greenberg Skeletal Dysplasia NGS Genetic Test: Symptoms, Diagnosis, and Cost
Greenberg skeletal dysplasia is a rare genetic disorder that affects bone growth and development. It is caused by mutations in the LBR gene, which provides instructions for making a protein that is essential for the normal functioning of cells. This disorder is inherited in an autosomal recessive pattern, which means that an affected individual must inherit two copies of the mutated gene, one from each parent.
Symptoms of Greenberg Skeletal Dysplasia
The symptoms of Greenberg skeletal dysplasia can vary widely from person to person, even among individuals with the same mutation. Some of the common symptoms include:
- Short stature
- Abnormal curvature of the spine (scoliosis)
- Abnormalities of the pelvis and hips
- Shortened limbs
- Joint stiffness and pain
- Abnormalities of the fingers and toes
- Dental abnormalities
- Intellectual disability (in some cases)
Diagnosis of Greenberg Skeletal Dysplasia
Diagnosis of Greenberg skeletal dysplasia can be challenging, as it is a rare disorder and the symptoms can be similar to other types of skeletal dysplasia. A thorough physical examination, medical history, and imaging studies such as X-rays and CT scans can help in the diagnosis. Genetic testing is also available to confirm the diagnosis and identify the specific mutation in the LBR gene.
NGS Genetic Test for Greenberg Skeletal Dysplasia
Next-generation sequencing (NGS) is a powerful genetic testing tool that can analyze multiple genes simultaneously, making it an efficient and cost-effective way to diagnose rare genetic disorders such as Greenberg skeletal dysplasia. The NGS Genetic Test for Greenberg skeletal dysplasia analyzes the LBR gene and can identify mutations that cause the disorder.
Cost of NGS Genetic Test for Greenberg Skeletal Dysplasia
The cost of the NGS Genetic Test for Greenberg skeletal dysplasia in India is approximately INR 20,000. This cost may vary depending on the testing facility and any additional testing that may be required.
Conclusion
Greenberg skeletal dysplasia is a rare genetic disorder that can cause significant physical and developmental challenges. Early diagnosis through genetic testing can help affected individuals and their families understand the disorder and access appropriate medical care. The NGS Genetic Test for Greenberg skeletal dysplasia is a valuable tool for diagnosing this disorder and can be a cost-effective option for families who suspect that their child may be affected.
For more information about genetic testing for Greenberg skeletal dysplasia and other rare genetic disorders, contact DNA Labs India.
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 LBR Gene Greenberg skeletal dysplasia NGS Genetic Test
| Test Name | LBR Gene Greenberg skeletal dysplasia NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Dermatologist |
| Pre-test Information | Clinical History of Patient who is going for LBR Gene Greenberg skeletal dysplasia NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LBR Gene Greenberg skeletal dysplasia NGS Genetic Test gene LBR |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for LBR Gene Greenberg skeletal dysplasia NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LBR Gene Greenberg skeletal dysplasia NGS Genetic Test gene LBR |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for LBR Gene Greenberg skeletal dysplasia 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.
