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TBX5 Full-Length Gene Sequence Analysis Holt-Oram Syndrome Test

7,500 د.إ

-25%

The “TBX5 Full-Length Gene Sequence Analysis Holt-Oram Syndrome Test” is a specialized genetic test available at DNA Labs UAE, designed to identify mutations in the TBX5 gene, which are closely associated with Holt-Oram Syndrome (HOS). HOS is a genetic condition characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart defects. The TBX5 gene plays a critical role in the development of the heart and upper limbs during embryogenesis, and mutations in this gene can lead to the characteristic features of Holt-Oram Syndrome.

This comprehensive test involves sequencing the full length of the TBX5 gene to detect any genetic alterations that might be responsible for the condition. By identifying specific mutations, the test can confirm a diagnosis of Holt-Oram Syndrome, which is crucial for the management and treatment of the disorder. It can also provide important information for family planning and genetic counseling for affected families.

The cost of the test is 7500 AED, reflecting the intricate technology and expertise required to accurately sequence and analyze the gene. Conducted at DNA Labs UAE, a facility known for its state-of-the-art genetic testing services, this test represents a significant step forward in the personalized diagnosis and understanding of genetic disorders like Holt-Oram Syndrome.

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TBX5 Full Length Gene Sequence Analysis Holt-Oram Syndrome Test

At DNA Labs UAE, we offer the TBX5 Full Length Gene Sequence Analysis Holt-Oram Syndrome Test for individuals who suspect they may have Holt-Oram Syndrome (HOS). This test helps in the diagnosis and genetic counseling of affected individuals and their families.

Test Details

Holt-Oram Syndrome is an autosomal dominant disorder characterized by upper limb malformations and congenital heart defects. It is caused by mutations in the TBX5 gene, which plays a crucial role in limb and heart development.

The TBX5 gene is approximately 14 kilobases in length and consists of 9 exons. It encodes a protein of 518 amino acids with a molecular weight of 56.8 kDa. The protein contains a conserved DNA-binding domain called the T-box domain, which is essential for its function as a transcription factor.

Mutations in TBX5 can lead to various phenotypes associated with HOS, including absent or hypoplastic thumb, radial ray defects, and atrial septal defects. Most mutations are missense mutations, resulting in amino acid substitutions within the T-box domain, which impair the protein’s DNA-binding ability. Other types of mutations, such as frameshift, nonsense, and splice-site mutations, have also been reported.

Identification of TBX5 mutations is important for accurate diagnosis and genetic counseling. Our TBX5 Full Length Gene Sequence Analysis test can be performed using Sanger sequencing, next-generation sequencing, or multiplex ligation-dependent probe amplification (MLPA) methods.

Test Name: TBX5 Full Length Gene Sequence Analysis Holt-Oram Syndrome Test

Components:

  • Sterile container
  • Sterile Normal Saline Container
  • EDTA Vacutainer (2ml)

Price: 7500.0 AED

Sample Condition: Peripheral blood/Amniotic Fluid/Chorionic villi/Cord blood

Report Delivery: 4-6 weeks

Method: Sanger Sequencing

Test type: Genetics

Doctor: Gynecologist

Test Department:

Pre Test Information: TBX5 Full Length Gene Sequence Analysis (Holt-Oram Syndrome) can be done with a doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.

At DNA Labs UAE, we prioritize accurate diagnosis and genetic counseling. Our TBX5 Full Length Gene Sequence Analysis Holt-Oram Syndrome Test is a valuable tool in understanding the molecular basis of HOS and providing the necessary support for affected individuals and their families.

Test Name TBX5 Full Length Gene Sequence Analysis Holt-Oram Syndrome Test
Components Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer (2ml)
Price 7500.0 AED
Sample Condition Peripheral blood\/Amniotic Fluid\/ Chorionic villi\/ Cord blood
Report Delivery 4-6 weeks
Method Sanger Sequencing
Test type Genetics
Doctor Gynecologist
Test Department:
Pre Test Information TBX5 Full Length Gene Sequence Analysis (Holt-Oram Syndrome) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.
Test Details

Holt-Oram Syndrome (HOS) is an autosomal dominant disorder characterized by upper limb malformations and congenital heart defects. Mutations in the TBX5 gene, which encodes a transcription factor essential for limb and heart development, have been identified as the cause of HOS.

The full-length gene sequence of TBX5 is approximately 14 kilobases in length and contains 9 exons. The gene encodes a protein of 518 amino acids with a molecular weight of 56.8 kDa. The protein contains a conserved DNA-binding domain, called the T-box domain, which is essential for its function as a transcription factor.

Mutations in TBX5 can lead to a variety of phenotypes associated with HOS, including absent or hypoplastic thumb, radial ray defects, and atrial septal defects. The majority of mutations in TBX5 are missense mutations, which result in amino acid substitutions within the T-box domain that impair the protein’s DNA-binding ability.

In addition to missense mutations, other types of mutations in TBX5 have also been reported, including frameshift, nonsense, and splice-site mutations. These mutations can result in premature termination of the protein or abnormal splicing of the mRNA, leading to a truncated or non-functional protein.

Identification of TBX5 mutations in individuals with HOS is important for accurate diagnosis and genetic counseling. Genetic testing for TBX5 mutations can be performed using various methods, including Sanger sequencing, next-generation sequencing, and multiplex ligation-dependent probe amplification (MLPA).

In summary, analysis of the full-length gene sequence of TBX5 is crucial for understanding the molecular basis of HOS and for accurate diagnosis and genetic counseling of affected individuals and their families.