Short Description

NGS genetic DNA test detecets for variant and mutation detection in HOXD13 gene for Brachydactyly-syndactyly syndrome

PreTest Information

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

Detail Description

HOXD13 Gene Brachydactyly-syndactyly syndrome NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Brachydactyly-syndactyly syndrome is a rare genetic disorder that affects the fingers and toes. It is caused by mutations in the HOXD13 gene. The syndrome is characterized by shortened fingers and toes (brachydactyly) and fused or webbed fingers and toes (syndactyly).

Symptoms

The main symptoms of brachydactyly-syndactyly syndrome are:

• Shortened fingers and toes
• Fused or webbed fingers and toes
• Abnormal curvature of the fingers and toes
• Malformed or absent nails
• Abnormal development of the bones in the hands and feet

Diagnosis

Brachydactyly-syndactyly syndrome is diagnosed through a physical examination, medical history, and genetic testing. The physical examination will look for the characteristic symptoms of the syndrome, such as shortened fingers and toes and fused or webbed digits. Medical history will also be taken to look for any family history of the syndrome or other genetic disorders. Genetic testing will be done to confirm the diagnosis and to identify the specific mutation in the HOXD13 gene that is causing the syndrome.

NGS Genetic DNA Test

NGS Genetic DNA Test is a type of genetic testing that uses next-generation sequencing to analyze the DNA sequence. This test can be used to identify mutations in the HOXD13 gene that are causing brachydactyly-syndactyly syndrome. The test is highly accurate and can detect even small mutations. The cost of the NGS Genetic DNA Test for brachydactyly-syndactyly syndrome in India is approximately INR 20,000.

Conclusion

Brachydactyly-syndactyly syndrome is a rare genetic disorder that affects the fingers and toes. It is caused by mutations in the HOXD13 gene. The syndrome is characterized by shortened fingers and toes and fused or webbed fingers and toes. Diagnosis is done through a physical examination, medical history, and genetic testing. NGS Genetic DNA Test is a highly accurate test that can identify mutations in the HOXD13 gene that are causing the syndrome. The cost of the test in India is approximately INR 20,000.

If you suspect that you or a family member may have brachydactyly-syndactyly syndrome, it is important to speak with a genetic counselor or healthcare provider. They can help you understand the diagnosis process and treatment options.

For more information on genetic testing and the NGS Genetic DNA Test, contact DNA Labs India.

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-syndactyly syndrome NGS Genetic DNA Test