EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test

Chondrodysplasia punctata is a group of genetic disorders that affect bone and cartilage development. One type of chondrodysplasia punctata is caused by mutations in the EBP gene, which is located on the X chromosome. This type of chondrodysplasia punctata is known as X-linked dominant chondrodysplasia punctata.

The EBP gene provides instructions for making an enzyme called emopamil-binding protein (EBP). This enzyme is involved in the production of cholesterol and other fats. Mutations in the EBP gene disrupt the normal function of the enzyme, leading to the symptoms of chondrodysplasia punctata.

Symptoms of EBP Gene Chondrodysplasia Punctata

The symptoms of EBP gene chondrodysplasia punctata can vary widely from person to person, even among individuals with the same genetic mutation. Some common symptoms include:

• Short stature
• Skeletal abnormalities
• Cataracts
• Intellectual disability
• Seizures
• Respiratory problems

Diagnosis of EBP Gene Chondrodysplasia Punctata

Diagnosis of EBP gene chondrodysplasia punctata is based on a combination of clinical symptoms and genetic testing. A physical examination may reveal skeletal abnormalities, cataracts, or other symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the EBP gene.

NGS Genetic Test for EBP Gene Chondrodysplasia Punctata

Next-generation sequencing (NGS) Genetic Testing is a powerful tool for identifying mutations in the EBP gene. This type of testing can analyze multiple genes at once, making it more efficient and cost-effective than traditional genetic testing methods.

Cost of NGS Genetic Test for EBP Gene Chondrodysplasia Punctata

The cost of NGS Genetic Testing for EBP gene chondrodysplasia punctata can vary depending on the testing facility and the specific testing method used. At DNA Labs India, the cost for this test is INR 20,000.

Conclusion

EBP gene chondrodysplasia punctata is a rare genetic disorder that can cause a range of symptoms, including short stature, skeletal abnormalities, cataracts, and intellectual disability. Diagnosis of this condition is based on a combination of clinical symptoms and genetic testing. NGS Genetic Testing is a powerful tool for identifying mutations in the EBP gene, and the cost for this test at DNA Labs India is INR 20,000.

If you suspect that you or a loved one may have EBP gene chondrodysplasia punctata, it is important to seek medical advice and genetic testing to confirm the diagnosis and receive appropriate treatment and management of symptoms.

 Note: We offer free home sample collection for online bookings for EBP Gene Chondrodysplasia punctata, X-linked dominant 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.