Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL5A1 gene for Ehlers-Danlos syndrome type 1/2

PreTest Information

Clinical History of Patient who is going for COL5A1 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL5A1 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic DNA Test gene COL5A1

Detail Description

DNA Labs India: Understanding COL5A1 Gene Ehlers-Danlos Syndrome Type 1/2 NGS Genetic DNA Test

Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders that affect the skin, joints, and blood vessel walls. It is caused by mutations in different genes, including the COL5A1 gene. EDS type 1/2 is caused by mutations in the COL5A1 gene and is characterized by joint hypermobility, skin hyperextensibility, and easy bruising.

Symptoms of EDS Type 1/2

EDS Type 1/2 is characterized by the following symptoms:

• Joint hypermobility
• Skin hyperextensibility
• Easy bruising
• Joint pain
• Fragile blood vessels
• Flat feet
• Thin, translucent skin
• Delayed wound healing

Diagnosis

Diagnosis of EDS Type 1/2 is usually made based on clinical evaluation and family history. Genetic testing can also be used to confirm the diagnosis and identify the specific gene mutation responsible for the condition. NGS (Next-Generation Sequencing) Genetic DNA Test is a highly accurate and efficient method of genetic testing that can detect mutations in the COL5A1 gene. It involves sequencing the DNA to identify any changes or mutations in the gene.

The Cost of NGS Genetic DNA Test for EDS Type 1/2

The cost of NGS Genetic DNA Test for EDS Type 1/2 in India is INR 20,000. This includes the cost of sample collection, DNA extraction, sequencing, and analysis. The results of the test are usually available within a few weeks.

Conclusion

EDS Type 1/2 is a rare genetic disorder that can cause significant disability and impairments. Early diagnosis and genetic testing can help in managing the symptoms and preventing complications. NGS Genetic DNA Test is a highly accurate and efficient method of genetic testing that can detect mutations in the COL5A1 gene. DNA Labs India offers affordable and reliable NGS Genetic DNA Test for EDS Type 1/2 that can help individuals and families affected by this condition.

Contact DNA Labs India to know more about NGS Genetic DNA Test for EDS Type 1/2 and to schedule an appointment for testing.