HOXA13 Gene Guttmacher Syndrome Genetic Test
Overview
The HOXA13 gene is responsible for the development of various tissues and organs in the body. Mutations in this gene can lead to Guttmacher syndrome, also known as hand-foot-genital syndrome. This rare genetic disorder is characterized by abnormalities in the hands, feet, and genitals.
Test Details
The HOXA13 Gene Guttmacher Syndrome Genetic Test is a comprehensive analysis of the HOXA13 gene and other genes associated with Guttmacher syndrome. This test utilizes NGS (next-generation sequencing) technology, which allows for rapid and accurate identification of mutations. The test can be performed on blood or extracted DNA samples, or even a single drop of blood on an FTA card.
Test Components and Price
- Test Name: HOXA13 Gene Guttmacher Syndrome Genetic Test
- Price: 4400.0 AED
Sample Condition
The test can be performed on blood samples, extracted DNA, or a single drop of blood on an FTA card.
Report Delivery
The test results are typically delivered within 3 to 4 weeks.
Test Type
The test falls under the category of dysmorphology, focusing on the study of abnormal development and structural birth defects.
Doctor and Test Department
This test is conducted by pediatricians in the Genetics department.
Pre Test Information
Prior to undergoing the HOXA13 Gene Guttmacher Syndrome Genetic Test, it is important to provide the patient’s clinical history. Additionally, a genetic counseling session may be conducted to create a pedigree chart of family members affected by Guttmacher syndrome and the HOXA13 gene mutation.
Signs and Symptoms of Guttmacher Syndrome
Guttmacher syndrome is characterized by various abnormalities, including:
- Malformations of the fingers and toes, such as missing or fused digits
- Abnormal development of the external genitalia, such as a shortened or absent penis in males or an enlarged clitoris in females
- Skeletal abnormalities
- Kidney defects
- Hearing loss
NGS Technology
Next-generation sequencing (NGS) is a powerful genetic testing technique that enables the comprehensive analysis of multiple genes simultaneously. In the context of Guttmacher syndrome, NGS can identify mutations in the HOXA13 gene and other relevant genes. This technology aids in confirming a diagnosis of Guttmacher syndrome, providing valuable information for genetic counseling and family planning.
Importance of Professional Guidance
It is crucial to undergo genetic testing for Guttmacher syndrome under the guidance of a healthcare professional, such as a geneticist or genetic counselor. These professionals can interpret the test results and provide appropriate recommendations and support to individuals and families affected by this genetic disorder.
| Test Name | HOXA13 Gene Guttmacher syndrome Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Dysmorphology |
| Doctor | Pediatrics |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for HOXA13 Gene Guttmacher syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HOXA13 Gene Guttmacher syndrome NGS Genetic DNA Test gene HOXA13 |
| Test Details |
The HOXA13 gene is a gene that codes for a protein involved in the development of various tissues and organs in the body. Mutations in the HOXA13 gene can lead to a condition known as Guttmacher syndrome, also called hand-foot-genital syndrome. Guttmacher syndrome is a rare genetic disorder characterized by abnormalities in the development of the hands, feet, and genitals. People with Guttmacher syndrome may have malformations of the fingers and toes, such as missing or fused digits. They may also have abnormalities in the development of the external genitalia, such as a shortened or absent penis in males or an enlarged clitoris in females. Other features of Guttmacher syndrome may include skeletal abnormalities, kidney defects, and hearing loss. NGS, or next-generation sequencing, is a genetic testing technique that allows for the rapid and comprehensive analysis of multiple genes simultaneously. It can be used to identify mutations in the HOXA13 gene and other genes associated with Guttmacher syndrome. NGS can help confirm a diagnosis of Guttmacher syndrome in individuals with characteristic symptoms and aid in genetic counseling and family planning. It is important to note that genetic testing for Guttmacher syndrome should be done under the guidance of a healthcare professional, such as a geneticist or genetic counselor, who can interpret the results and provide appropriate recommendations and support. |
