PYCR1 Gene Cutis Laxa Type 2B: Symptoms, Diagnosis, and NGS Genetic Test Cost in India
DNA Labs India offers cutting-edge Next-Generation Sequencing (NGS) Genetic Tests to diagnose a wide range of genetic disorders, including Cutis Laxa Type 2B caused by mutations in the PYCR1 gene. This autosomal recessive disorder affects the connective tissue, leading to loose, sagging skin and other health problems. In this blog, we will discuss the symptoms and diagnosis of Cutis Laxa Type 2B and the cost of the NGS Genetic Test in India.
Symptoms of Cutis Laxa Type 2B
Cutis Laxa Type 2B is a rare genetic disorder that affects the skin, joints, and internal organs. It is caused by mutations in the PYCR1 gene, which provides instructions for making an enzyme called pyrroline-5-carboxylate reductase 1. This enzyme is involved in the production of collagen and elastin, which are essential components of connective tissue.
People with Cutis Laxa Type 2B typically have loose, sagging skin that is not elastic and does not snap back when pinched. The skin may have a wrinkled appearance, especially on the face and neck. Other symptoms may include:
- Joint hypermobility
- Developmental delay
- Intellectual disability
- Seizures
- Respiratory problems
- Cardiovascular abnormalities
Diagnosis of Cutis Laxa Type 2B
Diagnosis of Cutis Laxa Type 2B typically involves a combination of clinical examination, genetic testing, and imaging studies. A doctor may perform a skin biopsy to examine the connective tissue under a microscope. Genetic testing can identify mutations in the PYCR1 gene that are associated with the disorder.
NGS Genetic Testing is a powerful tool for diagnosing genetic disorders like Cutis Laxa Type 2B. This test uses advanced sequencing technology to analyze the entire genome and identify mutations in specific genes. NGS Genetic Testing is more accurate and comprehensive than traditional genetic testing methods and can detect mutations that may be missed by other tests.
NGS Genetic Test Cost in India
The cost of the NGS Genetic Test for Cutis Laxa Type 2B at DNA Labs India is INR 20,000. This includes genetic counseling, sample collection, and analysis of the entire genome using advanced sequencing technology. The test typically takes 4-6 weeks to complete, and results are delivered in a confidential and secure manner.
NGS Genetic Testing is a valuable tool for diagnosing genetic disorders like Cutis Laxa Type 2B and can help patients and their families understand the underlying causes of their symptoms. If you or a loved one is experiencing symptoms of Cutis Laxa Type 2B, contact DNA Labs India to learn more about our NGS Genetic Testing services.
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 PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic Test
| Test Name | PYCR1 Gene Cutis laxa type 2B, autosomal recessive 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 PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic Test gene PYCR1 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic Test gene PYCR1 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PYCR1 Gene Cutis laxa type 2B, autosomal recessive 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.
