Nx GEN SEQUENCING 4H SYNDROME Test
Welcome to DNA Labs UAE, a leading genetic laboratory offering advanced testing services. Today, we would like to introduce you to our Nx GEN SEQUENCING 4H SYNDROME Test.
Test Details
The 4H Syndrome Test is a genetic test that utilizes Next Generation Sequencing (NGS) technology to identify mutations in genes associated with 4H syndrome. 4H syndrome is a rare genetic disorder characterized by the presence of four major symptoms: hypomyelination (lack of myelin in the brain), hypogonadotropic hypogonadism (reduced or absent sex hormone production), hypodontia (missing teeth), and hearing loss.
NGS technology allows for the simultaneous analysis of multiple genes associated with 4H syndrome, providing a comprehensive and efficient diagnostic tool. The test involves extracting DNA from a patient’s blood or saliva sample and sequencing specific genes known to be associated with 4H syndrome.
Test Components
- POLR3A
- POLR3B
Test Price
The cost of the Nx GEN SEQUENCING 4H SYNDROME Test is 4680.0 AED.
Sample Condition
Please submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. The sample should be shipped refrigerated. DO NOT FREEZE. Additionally, a duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Report Delivery
Sample should be submitted daily by 9 am. The report will be delivered within 40 working days.
Method
The Nx GEN SEQUENCING 4H SYNDROME Test utilizes NGS and Sanger sequencing methods.
Test Type
The test identifies multiple genetic defects associated with 4H syndrome.
Doctor
This test is recommended for Neurologists, Dentists, and Pediatricians.
Test Department
The Nx GEN SEQUENCING 4H SYNDROME Test is conducted in our Molecular Diagnostics department.
Pre Test Information
A duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory before conducting the test.
About 4H Syndrome
4H syndrome is a rare genetic disorder characterized by the presence of four major symptoms: hypomyelination, hypogonadotropic hypogonadism, hypodontia, and hearing loss. The 4H Syndrome Test helps to confirm a diagnosis of 4H syndrome and provides valuable information for genetic counseling, prognosis, and potential treatment options.
Thank you for considering DNA Labs UAE for your genetic testing needs. If you have any further questions or would like to schedule an appointment, please contact us.
Test Name | Nx GEN SEQUENCING 4H SYNDROME Test |
---|---|
Components | POLR3A, POLR3B |
Price | 4680.0 AED |
Sample Condition | Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Report Delivery | Sample Daily by 9 am; Report 40 Working days |
Method | NGS, Sanger sequencing |
Test type | Multiple genetic defects |
Doctor | Neurologist, Dentist, Pediatrician |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Test Details |
The 4H Syndrome Test is a genetic test that uses Next Generation Sequencing (NGS) technology to identify mutations in genes associated with 4H syndrome. 4H syndrome is a rare genetic disorder characterized by the presence of four major symptoms: hypomyelination (lack of myelin in the brain), hypogonadotropic hypogonadism (reduced or absent sex hormone production), hypodontia (missing teeth), and hearing loss. NGS technology allows for the simultaneous analysis of multiple genes associated with 4H syndrome, providing a comprehensive and efficient diagnostic tool. The test involves extracting DNA from a patient’s blood or saliva sample and sequencing specific genes known to be associated with 4H syndrome. By identifying mutations in these genes, the 4H Syndrome Test can confirm a diagnosis of 4H syndrome and provide valuable information for genetic counseling, prognosis, and potential treatment options. |