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TPK1 Gene Thiamine metabolism dysfunction syndrome type 5 NGS Genetic Test Cost

Original price was: ₹28,000.Current price is: ₹20,000.

-29%

NGS Genetic Test detecets for variant and mutation detection in TPK1 gene for Thiamine metabolism dysfunction syndrome type 5

Free Sample collection at your home for all online bookings

  • 100% Accurate Test Results
  • Book test before 2.30pm for same day Sample Collection
  • Get Tested at India No1 Genetic DNA Lab
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TPK1 Gene Thiamine Metabolism Dysfunction Syndrome Type 5 NGS Genetic Test

Thiamine metabolism dysfunction syndrome type 5 (THMD5) is a rare genetic disorder that affects the way the body processes thiamine or vitamin B1. The TPK1 gene is responsible for producing an enzyme that is essential in the conversion of thiamine into its active form, which is necessary for energy production in the body. THMD5 is caused by mutations in the TPK1 gene, which results in a deficiency of this enzyme and, in turn, leads to a range of symptoms.

Symptoms of THMD5

The symptoms of THMD5 can vary in severity and may include:

  • Developmental delay or intellectual disability
  • Weakness and muscle wasting
  • Difficulty swallowing
  • Heart problems
  • Seizures
  • Respiratory failure

Symptoms may be present at birth or may develop later in life.

Diagnosis of THMD5

Diagnosis of THMD5 is typically done through genetic testing. The TPK1 gene can be analyzed using next-generation sequencing (NGS) technology, which can identify mutations in the gene that are responsible for the disorder. The test may be recommended if a person has symptoms of THMD5 or if there is a family history of the disorder.

Cost of THMD5 NGS Genetic Test in India

The cost of THMD5 NGS Genetic Test in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and location.

Conclusion

Thiamine metabolism dysfunction syndrome type 5 (THMD5) is a rare genetic disorder that can cause a range of symptoms. Diagnosis of THMD5 is typically done through genetic testing, such as the NGS Genetic Test. The cost of the test in India is approximately INR 20,000. If you or a loved one has symptoms of THMD5 or a family history of the disorder, talk to a healthcare provider about genetic testing.

Test NameTPK1 Gene Thiamine metabolism dysfunction syndrome type 5 NGS Genetic Test
Sample typeBlood or Extracted DNA or One drop Blood on FTA Card
Test typeGeneral Physician
Pre-test InformationClinical History of Patient who is going for TPK1 Gene Thiamine metabolism dysfunction syndrome type 5 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Thiamine metabolism dysfunction syndrome type 5
DiseaseMetabolic Disorders
MethodNGS Technology
PurposeNULL
PreparationAmbient Room Temperature
FastingClinical History of Patient who is going for TPK1 Gene Thiamine metabolism dysfunction syndrome type 5 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Thiamine metabolism dysfunction syndrome type 5
Get Reports3 to 4 Weeks
Test PriceINR ₹ 20000

 Note: We offer free home sample collection for online bookings for TPK1 Gene Thiamine metabolism dysfunction syndrome type 5 NGS Genetic Test and the test costs 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.