DNA Labs India: HSPG2 Gene Dyssegmental Dysplasia, Silverman-Handmaker Type NGS Genetic Test

Introduction

Dyssegmental dysplasia, Silverman-Handmaker type is a rare genetic disorder that affects bone and cartilage development. It is caused by mutations in the HSPG2 gene, which provides instructions for making a protein called perlecan. Perlecan is important for the formation and maintenance of cartilage and bone tissues.

NGS (next-generation sequencing) Genetic Testing is a powerful tool for diagnosing genetic disorders like dyssegmental dysplasia. DNA Labs India offers an NGS Genetic Test for HSPG2 gene dyssegmental dysplasia, Silverman-Handmaker type, at a cost of INR 20,000.

In this blog post, we will discuss the symptoms and diagnosis of dyssegmental dysplasia, Silverman-Handmaker type, and explain how DNA Labs India’s NGS Genetic Test can help diagnose this rare genetic disorder.

Symptoms

Dyssegmental dysplasia, Silverman-Handmaker type is a skeletal dysplasia, which means it affects the development of bones and cartilage. The symptoms of dyssegmental dysplasia can vary widely, even among individuals with the same genetic mutation.

Some common symptoms of dyssegmental dysplasia, Silverman-Handmaker type include:

• Short stature
• Disproportionately short arms and legs
• Abnormal curvature of the spine (scoliosis or kyphosis)
• Abnormal curvature of the limbs (genu valgum or genu varum)
• Abnormal development of the pelvis and hip joints
• Facial abnormalities, including a small chin and a flattened midface
• Respiratory problems

These symptoms can range from mild to severe, and may become more pronounced over time. Some individuals with dyssegmental dysplasia may also develop arthritis or other joint problems as they get older.

Diagnosis

Diagnosing dyssegmental dysplasia, Silverman-Handmaker type can be challenging, as it is a rare genetic disorder and its symptoms can be similar to other skeletal dysplasias. However, there are several diagnostic tests that can help confirm a diagnosis.

Physical examination: A doctor may perform a physical examination to look for the characteristic symptoms of dyssegmental dysplasia, such as short stature, abnormal limb curvature, and facial abnormalities.

X-rays: X-rays can show abnormalities in bone and cartilage development, such as shortening of the long bones, abnormal curvature of the spine or limbs, and abnormal development of the pelvis and hip joints.

Genetic testing: Genetic testing can confirm a diagnosis of dyssegmental dysplasia, Silverman-Handmaker type. DNA Labs India offers an NGS Genetic Test for HSPG2 gene dyssegmental dysplasia, Silverman-Handmaker type, at a cost of INR 20,000. This test can detect mutations in the HSPG2 gene that are associated with dyssegmental dysplasia, and can help confirm a diagnosis in individuals with suspected or confirmed symptoms of the disorder.

Conclusion

Dyssegmental dysplasia, Silverman-Handmaker type is a rare genetic disorder that affects bone and cartilage development. The symptoms of dyssegmental dysplasia can vary widely, even among individuals with the same genetic mutation. However, there are several diagnostic tests that can help confirm a diagnosis, including physical examination, X-rays, and genetic testing.

DNA Labs India offers an NGS Genetic Test for HSPG2 gene dyssegmental dysplasia, Silverman-Handmaker type, at a cost of INR 20,000. This test can help diagnose this rare genetic disorder and provide valuable information for individuals and families affected by dyssegmental dysplasia.

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 HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic Test

 Note: We offer free home sample collection for online bookings for HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker 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.