PTDSS1 Gene Lenz-Majewski Hyperostotic Dwarfism NGS Genetic Test
Lenz-Majewski hyperostotic dwarfism (LMHD) is a rare genetic disorder characterized by multiple skeletal abnormalities, intellectual disability, and distinct facial features. It is caused by mutations in the PTDSS1 gene, which provides instructions for making an enzyme called phosphatidylserine synthase 1.
Phosphatidylserine synthase 1 is involved in the production of phosphatidylserine, a molecule that plays a crucial role in the formation and maintenance of cell membranes. Mutations in the PTDSS1 gene disrupt the normal functioning of this enzyme, leading to abnormal bone growth and other features of LMHD.
Symptoms of Lenz-Majewski Hyperostotic Dwarfism
The symptoms of Lenz-Majewski hyperostotic dwarfism can vary widely in severity and presentation. Some of the most common symptoms include:
- Short stature
- Abnormal bone growth and thickening
- Distinct facial features, such as a small head, prominent forehead, and wide nasal bridge
- Intellectual disability
- Delayed speech development
- Abnormal dentition
- Recurrent infections
- Abnormalities of the skin, hair, and nails
Diagnosis of Lenz-Majewski Hyperostotic Dwarfism
Diagnosis of Lenz-Majewski hyperostotic dwarfism can be challenging due to its rarity and variable presentation. However, a combination of clinical evaluation and genetic testing can help confirm the diagnosis. Genetic testing for mutations in the PTDSS1 gene can be performed using next-generation sequencing (NGS) technology.
PTDSS1 Gene NGS Genetic Test Cost
The cost of the PTDSS1 gene NGS Genetic Test for Lenz-Majewski hyperostotic dwarfism in India is approximately INR 20,000. This cost may vary depending on the testing facility and other factors.
Conclusion
Lenz-Majewski hyperostotic dwarfism is a rare genetic disorder that can cause a range of skeletal abnormalities, intellectual disability, and distinct facial features. Genetic testing using NGS technology can help confirm the diagnosis of LMHD by identifying mutations in the PTDSS1 gene. If you or a loved one is experiencing symptoms of LMHD, it is important to speak with a healthcare professional to determine the best course of action.
| Test Name | PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Pediatrics |
| Pre-test Information | Clinical History of Patient who is going for PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic Test gene PTDSS1 |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic Test gene PTDSS1 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism 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.
