Short Description

NGS genetic DNA test detecets for variant and mutation detection in HOXD13 gene for Brachydactyly type E1

PreTest Information

Clinical History of Patient who is going for HOXD13 Gene Brachydactyly type E1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HOXD13 Gene Brachydactyly type E1 NGS Genetic DNA Test gene HOXD13

Detail Description

HOXD13 Gene Brachydactyly Type E1 NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

Brachydactyly type E1 is a rare genetic disorder that affects the development of fingers and toes. The condition is caused by mutations in the HOXD13 gene, which provides instructions for making a protein that is essential for the normal development of fingers and toes. Brachydactyly type E1 is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the condition.

Symptoms of Brachydactyly Type E1

The most common symptom of Brachydactyly Type E1 is shortened fingers and toes. The bones in the fingers and toes are shorter than normal, and the nails may be abnormally shaped or absent. The condition may affect one or more fingers or toes, and it may be more severe in some individuals than others.

Other symptoms of Brachydactyly Type E1 may include:

• Webbed skin between the fingers or toes
• Bent or crooked fingers or toes
• Abnormal growth of bones in the hands or feet
• Difficulty with fine motor skills, such as writing or using utensils
• Joint pain or stiffness

Diagnosis of Brachydactyly Type E1

Brachydactyly Type E1 is typically diagnosed based on the characteristic symptoms and a family history of the condition. Genetic testing can confirm the diagnosis by identifying the specific mutation in the HOXD13 gene.

NGS Genetic DNA Test for Brachydactyly Type E1

The NGS Genetic DNA test for Brachydactyly Type E1 is a genetic test that uses next-generation sequencing (NGS) technology to analyze the DNA of an individual for mutations in the HOXD13 gene. This test can accurately identify the specific mutation that causes Brachydactyly Type E1 and can be used for diagnosis and genetic counseling.

Cost of NGS Genetic DNA Test for Brachydactyly Type E1

The cost of the NGS Genetic DNA Test for Brachydactyly Type E1 in India is approximately INR 20000. The exact cost may vary depending on the specific laboratory and location.

Conclusion

Brachydactyly type E1 is a rare genetic disorder that affects the development of fingers and toes. The condition is caused by mutations in the HOXD13 gene and is inherited in an autosomal dominant pattern. The most common symptom of Brachydactyly Type E1 is shortened fingers and toes. The NGS Genetic DNA test for Brachydactyly Type E1 is a genetic test that uses next-generation sequencing (NGS) technology to analyze the DNA of an individual for mutations in the HOXD13 gene. The cost of the NGS Genetic DNA Test for Brachydactyly Type E1 in India is approximately INR 20000.

If you or someone you know is experiencing symptoms of Brachydactyly Type E1, it is important to speak with a healthcare provider or genetic counselor for proper diagnosis and management of the condition.

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 Brachydactyly type E1 NGS Genetic DNA Test