Short Description

NGS genetic DNA test detecets for variant and mutation detection in HOXD13 gene for Syndactyly type 1

PreTest Information

Clinical History of Patient who is going for HOXD13 Gene Syndactyly type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HOXD13 Gene Syndactyly type 1 NGS Genetic DNA Test gene HOXD13

Detail Description

HOXD13 Gene Syndactyly Type 1 NGS Genetic DNA Test

Syndactyly type 1 is a rare genetic disorder that affects the development of fingers and toes. It is caused by mutations in the HOXD13 gene, which provides instructions for making a protein that is essential for the proper formation of fingers and toes.

The HOXD13 gene is located on chromosome 2 and is responsible for the development of the distal limb bones, which include the fingers and toes. Mutations in this gene can disrupt the normal formation of these bones, resulting in fused or webbed fingers and toes.

Symptoms of Syndactyly Type 1

The symptoms of syndactyly type 1 can vary depending on the severity of the condition. Some people may only have partial webbing between their fingers or toes, while others may have complete fusion. Common symptoms include:

• Fused or webbed fingers or toes
• Shortened fingers or toes
• Missing fingers or toes
• Abnormal curvature of fingers or toes
• Difficulty with fine motor skills

Diagnosis of Syndactyly Type 1

Syndactyly type 1 is typically diagnosed at birth or during early childhood. A physical examination can reveal fused or webbed fingers or toes. Imaging tests such as X-rays or CT scans can provide more detailed information about the bones and joints in the affected areas.

A genetic test can confirm a diagnosis of syndactyly type 1 by identifying mutations in the HOXD13 gene. This test can also determine if other family members are at risk of developing the condition.

NGS Genetic DNA Test for Syndactyly Type 1

The NGS Genetic DNA Test is a highly accurate method of identifying mutations in the HOXD13 gene. This test uses next-generation sequencing technology to analyze the DNA sequence of the gene and identify any mutations that may be present.

The test is performed on a blood or saliva sample and typically takes 2-4 weeks to produce results. The cost of the test is approximately INR 20,000.

Conclusion

Syndactyly type 1 is a rare genetic disorder that can affect the development of fingers and toes. It is caused by mutations in the HOXD13 gene, which can be identified through genetic testing. The NGS Genetic DNA Test is a highly accurate method of identifying these mutations and can help with diagnosis and treatment planning. If you or a loved one are experiencing symptoms of syndactyly type 1, it is important to speak with a genetic counselor or healthcare provider to discuss testing options.

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 HOXD13 Gene Syndactyly type 1 NGS Genetic DNA Test