Why to get tested at DNA Labs India for PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic DNA Test ?
Book Now
-
3500 Sample collection centers, Free Home Sample
collection for PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic DNA Test in your city
-
Ranked India No1 DNA Test Lab for
PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic DNA Test
-
Most Trusted Lab by doctors for PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic DNA Test. Call 07941057551 to talk with Doctor to
get second opinion for free of cost
-
100% All Conversation are private and confidential Call 07941057551 to talk with doctor 100%
Accurate Test Results for PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic DNA Test
PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic DNA Test Cost 20000 Rs
PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic DNA Test Details
PYCR1 Gene Cutis Laxa Type 2B: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India
DNA Labs India offers cutting-edge Next-Generation Sequencing (NGS) Genetic DNA 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 DNA 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 DNA 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 DNA testing is more accurate and comprehensive than traditional genetic testing methods and can detect mutations that may be missed by other tests.
NGS Genetic DNA Test Cost in India
The cost of the NGS Genetic DNA 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 DNA 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 DNA 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 DNA Test
