Short Description

NGS genetic DNA test detecets for variant and mutation detection in NEK1 gene for Short-rib thoracic dysplasia type 6 with or without polydactyly

PreTest Information

Clinical History of Patient who is going for NEK1 Gene Short-rib thoracic dysplasia type 6 with or without polydactyly NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NEK1 Gene Short-rib thoracic dysplasia type 6 with or without polydactyly NGS Genetic DNA Test gene NEK1

Detail Description

NEK1 Gene Short-Rib Thoracic Dysplasia Type 6 with or without Polydactyly NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

DNA Labs India offers a comprehensive genetic test for NEK1 gene short-rib thoracic dysplasia type 6 with or without polydactyly. This test uses the latest Next-Generation Sequencing (NGS) technology to detect mutations in the NEK1 gene, which is responsible for the development of this rare genetic disorder. In this blog, we will discuss the symptoms, diagnosis, and cost of this genetic test.

Symptoms of NEK1 Gene Short-Rib Thoracic Dysplasia Type 6 with or without Polydactyly

NEK1 gene short-rib thoracic dysplasia type 6 with or without polydactyly is a rare genetic disorder that affects the development of bones and other tissues in the body. The symptoms of this disorder can vary widely, depending on the severity and type of mutations in the NEK1 gene. Some of the common symptoms of this disorder include:

• Short stature and dwarfism
• Narrow chest and respiratory problems
• Polydactyly (extra fingers or toes)
• Abnormal spinal curvature (scoliosis)
• Abnormal bone development in the limbs, ribs, and other parts of the body

These symptoms can be present at birth or may appear later in life. In some cases, the symptoms may be mild and may not require medical attention. However, in severe cases, this disorder can cause life-threatening complications, such as respiratory failure.

Diagnosis of NEK1 Gene Short-Rib Thoracic Dysplasia Type 6 with or without Polydactyly

The diagnosis of NEK1 gene short-rib thoracic dysplasia type 6 with or without polydactyly can be challenging, as the symptoms can be similar to other genetic disorders. However, a genetic test can help to confirm the diagnosis of this disorder. The NGS genetic DNA test offered by DNA Labs India can detect mutations in the NEK1 gene with a high level of accuracy.

The test involves collecting a small sample of blood or saliva from the patient, which is then analyzed in the laboratory. The results of the test can help to confirm the diagnosis of NEK1 gene short-rib thoracic dysplasia type 6 with or without polydactyly, and can also provide important information about the type and severity of mutations in the NEK1 gene.

Cost of NEK1 Gene Short-Rib Thoracic Dysplasia Type 6 with or without Polydactyly NGS Genetic DNA Test

The cost of the NEK1 gene short-rib thoracic dysplasia type 6 with or without polydactyly NGS genetic DNA test offered by DNA Labs India is INR 20000. This test is highly accurate and can provide important information about the diagnosis and management of this rare genetic disorder. The test is also covered by most major insurance providers, making it accessible to patients who need it.

Conclusion

NEK1 gene short-rib thoracic dysplasia type 6 with or without polydactyly is a rare genetic disorder that can cause a range of symptoms, including short stature, respiratory problems, and abnormal bone development. The NGS genetic DNA test offered by DNA Labs India can help to confirm the diagnosis of this disorder and provide important information about its management. The cost of the test is INR 20000, and it is covered by most major insurance providers. If you or a loved one is experiencing symptoms of NEK1 gene short-rib thoracic dysplasia type 6 with or without polydactyly, talk to your doctor about the benefits of genetic testing.

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 NEK1 Gene Short-rib thoracic dysplasia type 6 with or without polydactyly NGS Genetic DNA Test