Short Description

NGS genetic DNA test detecets for variant and mutation detection in TBX5 gene for Holt-Oram syndrome

PreTest Information

Clinical History of Patient who is going for TBX5 Gene Holt-Oram syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBX5 Gene Holt-Oram syndrome NGS Genetic DNA Test gene TBX5

Detail Description

TBX5 Gene Holt-Oram syndrome NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Holt-Oram syndrome (HOS) is a rare genetic disorder that affects the development of the heart and upper limbs. HOS is caused by mutations in the TBX5 gene, which provides instructions for making a protein that helps regulate the development of the heart and upper limbs. The TBX5 gene is inherited in an autosomal dominant pattern, which means that an affected person has a 50% chance of passing the mutated gene on to their children.

At DNA Labs India, we offer a Next-Generation Sequencing (NGS) Genetic DNA Test for TBX5 Gene Holt-Oram syndrome. This test analyzes the DNA sequence of the TBX5 gene to identify any mutations that may be present. The cost of this test is INR 20,000.

Symptoms of Holt-Oram syndrome

The symptoms of Holt-Oram syndrome can vary widely from person to person, even among individuals with the same mutation in the TBX5 gene. The most common symptoms of HOS include:

• Heart defects, such as atrial septal defects (ASD), ventricular septal defects (VSD), or abnormalities of the heart valves
• Upper limb abnormalities, such as missing or underdeveloped thumbs, forearm bones, or wrist bones
• Short stature
• Skeletal abnormalities, such as scoliosis or kyphosis

Diagnosis of Holt-Oram syndrome

The diagnosis of Holt-Oram syndrome is based on a combination of clinical features, family history, and genetic testing. If a doctor suspects that a person has HOS, they may order imaging tests of the heart and upper limbs to look for abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the TBX5 gene. At DNA Labs India, we offer a NGS Genetic DNA Test for TBX5 Gene Holt-Oram syndrome to assist with the diagnosis.

Conclusion

Holt-Oram syndrome is a rare genetic disorder that affects the development of the heart and upper limbs. It is caused by mutations in the TBX5 gene, which can be identified through genetic testing. If you or a loved one are experiencing symptoms of HOS, it is important to speak with a doctor about the possibility of genetic testing. At DNA Labs India, we offer a NGS Genetic DNA Test for TBX5 Gene Holt-Oram syndrome at a cost of INR 20,000.

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 TBX5 Gene Holt-Oram syndrome NGS Genetic DNA Test