GMPPA Gene Alacrima, Achalasia and Mental Retardation Syndrome NGS Genetic Test
GMPPA Gene Alacrima, Achalasia and Mental Retardation Syndrome (GAARS) is a rare genetic disorder that affects the development of the nervous system. It is caused by mutations in the GMPPA gene, which provides instructions for making a protein that is essential for normal nerve cell function. GAARS is characterized by three main symptoms:
- Alacrima: reduced or absent tear production
- Achalasia: a disorder that affects the ability of the esophagus to move food into the stomach
- Mental retardation: intellectual disability that is present from birth or early childhood
GAARS is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated GMPPA gene – one from each parent – to develop the disorder. Individuals who inherit only one copy of the mutated gene are called carriers and do not have GAARS.
Symptoms of GAARS
The symptoms of GAARS can vary widely between affected individuals, even among those with the same mutations in the GMPPA gene. The severity of symptoms can also vary, even within the same family.
Alacrima is often the first symptom of GAARS to appear and can be diagnosed at an early age. Children with GAARS may have difficulty producing tears, which can cause dry eyes and increase the risk of eye infections.
Achalasia can cause difficulty swallowing, chest pain, and regurgitation of food. It can also lead to malnutrition and weight loss if not properly treated.
Mental retardation can range from mild to severe and can affect a person’s ability to learn, communicate, and live independently. Some individuals with GAARS may also have behavioral problems or psychiatric disorders.
Diagnosis of GAARS
GAARS is diagnosed based on clinical features, family history, and genetic testing. A doctor may suspect GAARS in an individual with alacrima, achalasia, and intellectual disability. A physical exam can also reveal other signs of the disorder, such as dry skin, reduced reflexes, or abnormal eye movements.
Genetic testing can confirm a diagnosis of GAARS by identifying mutations in the GMPPA gene. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, making it a useful tool for diagnosing rare genetic disorders like GAARS.
Cost of GAARS NGS Genetic Test
The cost of a GAARS NGS Genetic Test in India is approximately INR 20,000. This cost may vary depending on the laboratory and the specific testing method used.
Conclusion
GAARS is a rare genetic disorder that affects the development of the nervous system. It is caused by mutations in the GMPPA gene and is inherited in an autosomal recessive manner. Symptoms of GAARS can include alacrima, achalasia, and mental retardation. Diagnosis is based on clinical features and genetic testing, including NGS. The cost of a GAARS NGS Genetic Test in India is approximately INR 20,000.
If you or a loved one is experiencing symptoms of GAARS, it is important to speak with a doctor and consider genetic testing for a definitive diagnosis.
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 GMPPA Gene Alacrima, achalasia and mental retardation syndrome NGS Genetic Test
| Test Name | GMPPA Gene Alacrima, achalasia and mental retardation syndrome NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Pediatrics |
| Pre-test Information | Clinical History of Patient who is going for GMPPA Gene Alacrima, achalasia and mental retardation syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GMPPA Gene Alacrima, achalasia and mental retardation syndrome NGS Genetic Test gene GMPPA |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for GMPPA Gene Alacrima, achalasia and mental retardation syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GMPPA Gene Alacrima, achalasia and mental retardation syndrome NGS Genetic Test gene GMPPA |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for GMPPA Gene Alacrima, achalasia and mental retardation syndrome 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.
