GP1BA Gene Bernard Soulier Syndrome Type A1 NGS Genetic Test: Symptoms, Diagnosis, and Cost

Bernard Soulier Syndrome (BSS) is a rare genetic bleeding disorder that is inherited in an autosomal recessive pattern. It is caused by mutations in the GP1BA gene, which encodes the glycoprotein Ibalpha (GPIbalpha) subunit of the GPIb-IX-V receptor complex on platelets. The disorder is characterized by prolonged bleeding time, thrombocytopenia, and giant platelets. BSS type A1 is the most common subtype of BSS, caused by mutations in the GP1BA gene.

Symptoms of BSS Type A1

The symptoms of BSS type A1 include:

• Prolonged bleeding time
• Easy bruising
• Nosebleeds
• Heavy menstrual periods
• Bleeding gums
• Blood in urine or stool
• Excessive bleeding after surgery or injury

Diagnosis of BSS Type A1

The diagnosis of BSS type A1 is based on clinical and laboratory findings. The laboratory tests that can help diagnose BSS type A1 include:

• Platelet function tests
• Complete blood count (CBC)
• Bone marrow biopsy
• Genetic testing

NGS Genetic Test for GP1BA Gene

Next-generation sequencing (NGS) is a powerful tool for genetic testing, allowing for the analysis of multiple genes simultaneously. NGS can be used to test for mutations in the GP1BA gene, which can help diagnose BSS type A1. The NGS Genetic Test for GP1BA gene is a non-invasive test that requires only a blood sample. The test is highly accurate and can detect even low levels of mutations in the GP1BA gene.

Cost of NGS Genetic Test for GP1BA Gene

The cost of NGS Genetic Test for GP1BA gene in India is around INR 20,000. The cost may vary depending on the laboratory and the location. However, it is important to note that the cost of the test should not be a deterrent to getting a proper diagnosis and treatment for BSS type A1.

Conclusion

Bernard Soulier Syndrome type A1 is a rare genetic bleeding disorder caused by mutations in the GP1BA gene. The symptoms of BSS type A1 include prolonged bleeding time, easy bruising, nosebleeds, heavy menstrual periods, bleeding gums, blood in urine or stool, and excessive bleeding after surgery or injury. The diagnosis of BSS type A1 can be made through laboratory tests, including genetic testing. NGS Genetic Test for GP1BA gene is a highly accurate and non-invasive test that can help diagnose BSS type A1. The cost of the test may vary, but it should not be a deterrent to getting a proper diagnosis and treatment for BSS type A1.

If you suspect that you or a loved one may have BSS type A1, consult a healthcare professional for proper diagnosis and treatment.

For more information on genetic testing and DNA labs in India, visit

DNA Labs India

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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 GP1BA Gene Bernard Soulier syndrome type A1 NGS Genetic Test

 Note: We offer free home sample collection for online bookings for GP1BA Gene Bernard Soulier syndrome type A1 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.