Short Description

NGS genetic DNA test detecets for variant and mutation detection in IFT122 gene for Cranioectodermal dysplasia type 1

PreTest Information

Clinical History of Patient who is going for IFT122 Gene Cranioectodermal dysplasia type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IFT122 Gene Cranioectodermal dysplasia type 1 NGS Genetic DNA Test gene IFT122

Detail Description

IFT122 Gene Cranioectodermal Dysplasia Type 1 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Cranioectodermal dysplasia type 1 (CED1) is a rare genetic disorder that affects the development of bones, skin, and other tissues in the body. It is caused by mutations in the IFT122 gene, which provides instructions for making a protein that is essential for the normal development and function of cells.

If you or someone you know is experiencing symptoms of CED1, it is important to get tested for the IFT122 gene mutation. The NGS Genetic DNA Test offered by DNA Labs India can help diagnose CED1 and determine the best course of treatment. Here is everything you need to know about the symptoms, diagnosis, and cost of the IFT122 Gene Cranioectodermal Dysplasia Type 1 NGS Genetic DNA Test:

Symptoms of CED1

The symptoms of CED1 can vary widely from person to person, but they generally involve abnormalities in the bones, skin, and other tissues. Some of the most common symptoms include:

• Abnormalities in the shape and size of the head and face
• Abnormalities in the fingers and toes, such as extra or missing digits
• Abnormalities in the bones of the spine, ribs, and limbs
• Abnormalities in the skin, such as dryness, scaling, and thickening
• Delayed growth and development
• Intellectual disability

Diagnosis of CED1

If you or someone you know is experiencing symptoms of CED1, it is important to get tested for the IFT122 gene mutation. The NGS Genetic DNA Test offered by DNA Labs India can help diagnose CED1 by analyzing a sample of DNA from the patient.

The NGS Genetic DNA Test uses next-generation sequencing technology to identify mutations in the IFT122 gene. This test is highly accurate and can detect even small changes in the DNA sequence. Once a mutation is identified, a genetic counselor can help interpret the results and provide guidance on the best course of treatment.

Cost of the IFT122 Gene Cranioectodermal Dysplasia Type 1 NGS Genetic DNA Test

The cost of the IFT122 Gene Cranioectodermal Dysplasia Type 1 NGS Genetic DNA Test offered by DNA Labs India is INR 20,000. This cost includes the analysis of the DNA sample, as well as genetic counseling to help interpret the results and provide guidance on the best course of treatment.

While the cost of the test may seem high, it is important to remember that early diagnosis and treatment of CED1 can greatly improve the quality of life for those affected by the disorder. Additionally, some insurance plans may cover the cost of genetic testing, so it is worth checking with your provider to see if you are eligible for coverage.

Conclusion

If you or someone you know is experiencing symptoms of CED1, it is important to get tested for the IFT122 gene mutation. The NGS Genetic DNA Test offered by DNA Labs India can help diagnose CED1 and determine the best course of treatment. With early diagnosis and treatment, those affected by CED1 can lead happy, healthy lives.

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 IFT122 Gene Cranioectodermal dysplasia type 1 NGS Genetic DNA Test