PTPRC Gene and Severe Combined Immunodeficiency: Symptoms, Diagnosis, and NGS Genetic Test Cost
Severe combined immunodeficiency (SCID) is a rare genetic disorder that affects the immune system, making individuals highly susceptible to infections. One of the genes associated with SCID is the protein tyrosine phosphatase receptor type C (PTPRC) gene. Mutations in this gene can lead to T cell-negative, B-cell/natural killer-cell positive SCID, a subtype of the disorder.
Symptoms of PTPRC Gene SCID
PTPRC Gene SCID symptoms can vary depending on the severity of the condition and the age of onset. Infants with SCID may present with:
- Recurrent, severe infections that do not respond to treatment
- Failure to thrive and poor weight gain
- Chronic diarrhea
- Severe skin rashes
- Enlarged liver and spleen
In addition, affected individuals may have low levels of T cells, which are responsible for fighting infections, and normal to high levels of B cells and natural killer cells.
Diagnosis of PTPRC Gene SCID
SCID is usually diagnosed in infancy, although milder forms of the disorder may not be identified until later in life. Diagnosis typically involves a combination of medical history, physical examination, and laboratory tests.
One of the laboratory tests used to diagnose SCID is genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes simultaneously, including the PTPRC gene. NGS can help identify mutations in the gene that may be responsible for SCID.
NGS Genetic Test Cost for PTPRC Gene SCID
The cost of NGS Genetic Testing for PTPRC Gene SCID can vary depending on the provider and location. In India, the cost of the test is typically around INR 20,000.
It is important to note that NGS Genetic Testing for PTPRC Gene SCID is not routinely offered as a screening test. It is typically reserved for individuals with symptoms suggestive of the disorder or those with a family history of SCID.
Conclusion
PTPRC Gene SCID is a rare genetic disorder that can lead to severe immune system dysfunction. Symptoms may include recurrent infections, failure to thrive, and chronic diarrhea. Diagnosis typically involves a combination of medical history, physical examination, and laboratory tests, including NGS Genetic Testing. The cost of the test in India is around INR 20,000. It is important to discuss any concerns or symptoms with a healthcare professional and undergo appropriate testing if necessary.
For more information on genetic testing and SCID, contact DNA Labs India.
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 PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive NGS Genetic Test
| Test Name | PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive 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 PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive NGS Genetic Test gene PTPRC |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive NGS Genetic Test gene PTPRC |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive 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.
