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QARS1 Gene Microcephaly Progressive Seizures and Cerebral and Cerebellar Atrophy Genetic Test

4,400 د.إ

-21%

The QARS1 gene microcephaly progressive seizures and cerebral and cerebellar atrophy genetic test is a specialized diagnostic procedure designed to identify mutations in the QARS1 gene, which have been linked to a rare, inherited neurodevelopmental disorder. This condition is characterized by microcephaly (a smaller than normal head size), progressive seizures, and atrophy of the cerebral and cerebellar regions of the brain, leading to significant developmental and neurological challenges.

The test involves analyzing the patient’s DNA to detect any genetic anomalies in the QARS1 gene that could be responsible for the symptoms observed. It is a crucial step in confirming a diagnosis, which can then guide treatment options and allow for genetic counseling regarding the condition’s inheritance patterns.

Administered at DNA Labs UAE, a leading facility in genetic testing, the cost of this comprehensive test is set at 4400 AED. The lab employs cutting-edge technology and expertise to ensure accurate and reliable results, providing essential information for affected individuals and their families to manage the condition effectively.

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  • This test is not intended for medical diagnosis or treatment
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QARS1 Gene Microcephaly Progressive Seizures and Cerebral and Cerebellar Atrophy Genetic Test

Test Name: QARS1 Gene Microcephaly Progressive Seizures and Cerebral and Cerebellar Atrophy Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

Price: 4400.0 AED

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 QARS1 Gene Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with QARS1 Gene Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy NGS Genetic DNA Test gene QARS1

Test Details

The QARS1 gene is associated with a rare genetic disorder called Microcephaly with Seizures and Cerebral and Cerebellar Atrophy Syndrome. This syndrome is characterized by microcephaly (abnormally small head size), progressive cerebral and cerebellar atrophy (degeneration of brain tissue), and seizures. NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations or variations in the QARS1 gene that may be responsible for this syndrome. NGS is a high-throughput sequencing technology that allows for the simultaneous sequencing of multiple genes or the entire exome (the protein-coding regions of the genome). This can help in identifying specific genetic changes that may be causing the disorder. Genetic testing can be helpful in confirming a diagnosis, providing information about the prognosis, and guiding treatment options. It can also be beneficial for family planning and genetic counseling purposes. It is important to note that the information provided here is a general overview, and a healthcare professional or genetic counselor should be consulted for a more personalized and accurate assessment of the condition and genetic testing options.

Test Name QARS1 Gene Microcephaly progressive seizures and cerebral and cerebellar atrophy 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 QARS1 Gene Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with QARS1 Gene Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy NGS Genetic DNA Test gene QARS1
Test Details

The QARS1 gene is associated with a rare genetic disorder called Microcephaly with Seizures and Cerebral and Cerebellar Atrophy Syndrome. This syndrome is characterized by microcephaly (abnormally small head size), progressive cerebral and cerebellar atrophy (degeneration of brain tissue), and seizures.

NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations or variations in the QARS1 gene that may be responsible for this syndrome. NGS is a high-throughput sequencing technology that allows for the simultaneous sequencing of multiple genes or the entire exome (the protein-coding regions of the genome). This can help in identifying specific genetic changes that may be causing the disorder.

Genetic testing can be helpful in confirming a diagnosis, providing information about the prognosis, and guiding treatment options. It can also be beneficial for family planning and genetic counseling purposes.

It is important to note that the information provided here is a general overview, and a healthcare professional or genetic counselor should be consulted for a more personalized and accurate assessment of the condition and genetic testing options.