MLPH Gene Griscelli Syndrome Type 3 NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Griscelli Syndrome Type 3 is a rare genetic disorder that affects only a few hundred people worldwide. It is caused by mutations in the MLPH gene, which encodes for a protein that is essential for the transport and distribution of pigment in the body. The disorder is characterized by hypopigmentation, which is the loss of skin and hair color, and immunodeficiency, which makes individuals susceptible to infections.
NGS Genetic Testing is a diagnostic tool that can be used to identify mutations in the MLPH gene. This test is performed on a blood sample and can help to confirm a diagnosis of Griscelli Syndrome Type 3. The test is available at DNA Labs India and costs INR 20000.
Symptoms of Griscelli Syndrome Type 3
The symptoms of Griscelli Syndrome Type 3 typically appear in infancy or early childhood. Hypopigmentation is the most common symptom and can affect the skin, hair, and eyes. The skin may appear lighter than normal, and the hair may be silvery or white. The eyes may also have a lighter color than normal.
Immunodeficiency is another common symptom of Griscelli Syndrome Type 3. Individuals with the disorder are at an increased risk of infections, particularly those caused by bacteria and viruses.
Other symptoms of Griscelli Syndrome Type 3 may include:
- Delayed development
- Enlarged liver and spleen
- Neurological abnormalities
- Abnormalities in blood clotting
- Abnormalities in the immune system
Diagnosis of Griscelli Syndrome Type 3
Diagnosis of Griscelli Syndrome Type 3 can be challenging because the symptoms are similar to those of other conditions. However, genetic testing can help to confirm a diagnosis. NGS Genetic Testing is a diagnostic tool that can be used to identify mutations in the MLPH gene. This test is performed on a blood sample and can help to confirm a diagnosis of Griscelli Syndrome Type 3.
Conclusion
Griscelli Syndrome Type 3 is a rare genetic disorder that affects only a few hundred people worldwide. It is caused by mutations in the MLPH gene, which encodes for a protein that is essential for the transport and distribution of pigment in the body. The disorder is characterized by hypopigmentation and immunodeficiency, which makes individuals susceptible to infections. NGS Genetic Testing is a diagnostic tool that can be used to identify mutations in the MLPH gene. This test is available at DNA Labs India and costs INR 20000.
If you suspect that you or your child may have Griscelli Syndrome Type 3, it is important to speak with a healthcare professional. They can help to determine whether genetic testing is necessary and can provide guidance on available treatment options.
For more information on genetic testing and Griscelli Syndrome Type 3, visit the DNA Labs India website.
Test Name | MLPH Gene Griscelli syndrome type 3 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 MLPH Gene Griscelli syndrome type 3 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MLPH Gene Griscelli syndrome type 3 NGS Genetic Test gene MLPH |
Disease | Osteology Dermatology Immunology Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for MLPH Gene Griscelli syndrome type 3 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MLPH Gene Griscelli syndrome type 3 NGS Genetic Test gene MLPH |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for MLPH Gene Griscelli syndrome type 3 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.