DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic Test cost INR:20000 symptoms diagnosis
Spondylometaepiphyseal dysplasia, short limb-hand type (SMED-SL) is a rare genetic disorder that affects bone growth. It is caused by mutations in the DDR2 gene. DDR2 provides instructions for making a protein that is involved in the development and maintenance of bones. Mutations in this gene disrupt the normal functioning of the protein, leading to abnormal bone growth and development.
SMED-SL is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated DDR2 gene (one from each parent) to develop the condition. People with only one copy of the mutated gene are called carriers and do not usually show any symptoms of the disorder.
Symptoms of SMED-SL
SMED-SL is characterized by short stature with disproportionately short limbs and hands. Other symptoms include:
- Abnormal curvature of the spine (scoliosis)
- Abnormal development of the bones in the hands and feet
- Abnormal development of the bones in the spine and pelvis
- Joint pain and stiffness
- Difficulty breathing due to abnormal chest development
Diagnosis of SMED-SL
The diagnosis of SMED-SL is usually made based on clinical findings, family history, and genetic testing. X-rays and other imaging studies can be used to evaluate bone development and detect abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the DDR2 gene.
NGS Genetic Test cost for SMED-SL
The cost of NGS Genetic Test for SMED-SL at DNA Labs India is INR 20000. This test uses next-generation sequencing (NGS) technology to analyze the DDR2 gene and identify mutations that cause SMED-SL. This test is highly accurate and can detect even very rare mutations in the gene.
Conclusion
SMED-SL is a rare genetic disorder that affects bone growth and development. It is caused by mutations in the DDR2 gene and is inherited in an autosomal recessive pattern. Symptoms of SMED-SL include short stature with disproportionately short limbs and hands, abnormal curvature of the spine, and joint pain and stiffness. The diagnosis of SMED-SL is usually made based on clinical findings, family history, and genetic testing. NGS Genetic Test for SMED-SL is available at DNA Labs India at a cost of INR 20000.
Spondylometaphyseal dysplasia, short limb-hand type (SMD-SLH), is a rare genetic disorder that affects bone development and leads to short stature, abnormal bone shape, and other skeletal abnormalities. Mutations in the DDR2 gene have been associated with this condition.
| Test Name | DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type 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 DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic Test gene DDR2 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic Test gene DDR2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type 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.
