Short Description

NGS genetic DNA test detecets for variant and mutation detection in WDR19 gene for Cranioectodermal dysplasia type 4

PreTest Information

Clinical History of Patient who is going for WDR19 Gene Cranioectodermal dysplasia type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with WDR19 Gene Cranioectodermal dysplasia type 4 NGS Genetic DNA Test gene WDR19

Detail Description

WDR19 Gene Cranioectodermal Dysplasia Type 4 NGS Genetic DNA Test

Cranioectodermal dysplasia (CED) is a rare genetic disorder that affects the development of bones, skin, hair, nails, and teeth. CED is caused by mutations in the WDR19 gene, which provides instructions for making a protein that is essential for the normal development and function of cilia.

Symptoms of Cranioectodermal Dysplasia Type 4

The symptoms of CED type 4 vary widely, even among individuals with the same genetic mutation. Common symptoms of CED type 4 include:

• Abnormalities of the skull and facial bones
• Short stature
• Abnormal curvature of the spine (scoliosis)
• Abnormalities of the fingers and toes
• Abnormalities of the teeth and nails
• Abnormalities of the skin and hair

Diagnosis of Cranioectodermal Dysplasia Type 4

CED type 4 can be diagnosed through genetic testing, which involves analyzing a sample of DNA from the patient. The test can detect mutations in the WDR19 gene that are associated with CED type 4. Other tests, such as imaging studies and blood tests, may also be used to help diagnose the condition.

NGS Genetic DNA Test Cost at DNA Labs India

The cost of an NGS Genetic DNA Test for WDR19 Gene Cranioectodermal Dysplasia Type 4 at DNA Labs India is INR 20,000.

If you suspect that you or a loved one may have CED type 4, it is important to seek medical attention. DNA Labs India offers genetic testing for a range of rare genetic disorders, including CED type 4. Contact us today to learn more.

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 WDR19 Gene Cranioectodermal dysplasia type 4 NGS Genetic DNA Test