ALDH18A1 Gene Cutis Laxa Type 3A – Symptoms, Diagnosis and NGS Genetic Test Cost
ALDH18A1 Gene Cutis Laxa Type 3A is a rare autosomal recessive genetic disorder that affects the connective tissues in the body, leading to loose and sagging skin. It is caused by mutations in the ALDH18A1 gene, which provides instructions for making an enzyme called delta-1-pyrroline-5-carboxylate synthase. This enzyme is involved in the production of a molecule called proline, which is essential for the formation of collagen and elastin in the skin and other connective tissues.
Symptoms of ALDH18A1 Gene Cutis Laxa Type 3A
The symptoms of ALDH18A1 Gene Cutis Laxa Type 3A can vary widely, even among individuals with the same genetic mutation. However, some common symptoms include:
- Loose, sagging skin
- Poor wound healing
- Joint laxity
- Developmental delay
- Intellectual disability
- Seizures
Diagnosis of ALDH18A1 Gene Cutis Laxa Type 3A
ALDH18A1 Gene Cutis Laxa Type 3A can be diagnosed through genetic testing, which can identify mutations in the ALDH18A1 gene. Other diagnostic tests may include skin biopsies, echocardiograms, and imaging studies to evaluate the structure and function of the heart and other organs.
NGS Genetic Test Cost for ALDH18A1 Gene Cutis Laxa Type 3A
The cost of NGS Genetic Testing for ALDH18A1 Gene Cutis Laxa Type 3A varies depending on the laboratory and the specific tests performed. At DNA Labs India, we offer a comprehensive range of genetic testing services, including NGS sequencing, at a cost of INR 20,000.
If you suspect that you or a loved one may have ALDH18A1 Gene Cutis Laxa Type 3A, contact DNA Labs India today to schedule a consultation with one of our genetic counselors. We can provide information on genetic testing options and help you make informed decisions about your healthcare.
Cutis laxa type 3A, autosomal recessive (ARCL3A), is a rare genetic disorder characterized by loose and wrinkled skin that may be present from birth or become more noticeable as a person ages. It is caused by mutations in the ALDH18A1 gene, which provides instructions for making an enzyme called delta-1-pyrroline-5-carboxylate synthase (P5CS). This enzyme plays a role in the synthesis of proline, an amino acid that is important for collagen formation and other processes in the body.
| Test Name | ALDH18A1 Gene Cutis laxa type 3A, autosomal recessive NGS Genetic Test |
|---|---|
| Sample type | Blood |
| Test type | Dermatologist |
| Pre-test Information | Clinical History of Patient who is going for ALDH18A1 Gene Cutis laxa type 3A, autosomal recessive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ALDH18A1 Gene Cutis laxa type 3A, autosomal recessive NGS Genetic Test gene ALDH18A1 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for ALDH18A1 Gene Cutis laxa type 3A, autosomal recessive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ALDH18A1 Gene Cutis laxa type 3A, autosomal recessive NGS Genetic Test gene ALDH18A1 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ALDH18A1 Gene Cutis laxa type 3A, 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.
