Nx Gen Sequencing Megalencephalic Leukoencephalopathy with Subcortical Cysts Test sale cost 4680 AED
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Nx Gen Sequencing Megalencephalic Leukoencephalopathy with Subcortical Cysts Test Cost

Original price was: 5,200 د.إ.Current price is: 4,680 د.إ.

-10%

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare neurological disorder characterized by an abnormally large brain, white matter abnormalities, and the presence of fluid-filled cysts within the brain. This condition often presents in infancy or early childhood and can lead to a range of symptoms, including macrocephaly, ataxia, spasticity, and seizures, among others. The progression and severity of symptoms can vary significantly among affected individuals.

In the pursuit of accurate diagnosis and better understanding of MLC, Next Generation Sequencing (NGS) has emerged as a powerful tool. The “Nx Gen Sequencing Megalencephalic Leukoencephalopathy with Subcortical Cysts Test” is a specific diagnostic test offered by DNA Labs UAE, utilizing cutting-edge NGS technology to analyze the genetic mutations associated with MLC. This test focuses on identifying mutations in the MLC1 and HEPACAM genes, which have been linked to the condition. Identifying these mutations can confirm a diagnosis of MLC, provide valuable information for family planning, and contribute to the overall understanding of the disease.

The cost of the test is 4680 AED, reflecting the comprehensive nature of the analysis and the advanced technology employed. 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 diagnosis and study of megalencephalic leukoencephalopathy with subcortical cysts. Through such advanced diagnostics, patients and their families can gain access to more targeted support and management strategies for dealing with this challenging condition.

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Nx GEN SEQUENCING MEGALOENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS Test

Test Cost: AED 4680.0

Symptoms and Diagnosis

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder that affects the brain. It is characterized by the presence of large brain size (megalencephaly) and the formation of fluid-filled cysts in the subcortical regions of the brain.

To diagnose MLC, a genetic test called next-generation sequencing (NGS) can be performed. NGS is a high-throughput sequencing technology that allows for the simultaneous analysis of multiple genes or even the entire genome. It can identify mutations or variations in specific genes associated with MLC.

The specific genes commonly analyzed in NGS testing for MLC include MLC1 and HEPACAM. Mutations in these genes have been found to be responsible for the majority of MLC cases. By analyzing these genes using NGS, healthcare professionals can determine if there are any genetic abnormalities that are causing MLC in an individual.

NGS testing for MLC can be done using a blood sample or other tissue samples from the affected individual. The sample is processed in a laboratory, and the genetic material is sequenced using NGS technology. The resulting data is then analyzed to identify any mutations or variations in the MLC-associated genes.

It is important to note that NGS testing may not always detect all mutations or variations in the genes associated with MLC. In some cases, additional testing or alternative genetic testing methods may be necessary for a definitive diagnosis.

Test Details

  • Test Name: Nx GEN SEQUENCING MEGALOENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS Test
  • Test Components: MLC1, HEPACAM
  • Price: AED 4680.0
  • 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: Genetic Disorders-Macrocephaly
  • Doctor: Neurologist
  • Test Department: MOLECULAR DIAGNOSTICS
  • Pre Test Information: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Conclusion

Overall, NGS testing for megalencephalic leukoencephalopathy with subcortical cysts is a valuable tool in diagnosing this rare genetic disorder and can provide important information for treatment and management strategies.

Test Name Nx GEN SEQUENCING MEGALOENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS Test
Components MLC1, HEPACAM
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 Genetic Disorders-Macrocephaly
Doctor Neurologist
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Test Details

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder that affects the brain. It is characterized by the presence of large brain size (megalencephaly) and the formation of fluid-filled cysts in the subcortical regions of the brain.

To diagnose MLC, a genetic test called next-generation sequencing (NGS) can be performed. NGS is a high-throughput sequencing technology that allows for the simultaneous analysis of multiple genes or even the entire genome. It can identify mutations or variations in specific genes associated with MLC.

The specific genes commonly analyzed in NGS testing for MLC include MLC1 and HEPACAM. Mutations in these genes have been found to be responsible for the majority of MLC cases. By analyzing these genes using NGS, healthcare professionals can determine if there are any genetic abnormalities that are causing MLC in an individual.

NGS testing for MLC can be done using a blood sample or other tissue samples from the affected individual. The sample is processed in a laboratory, and the genetic material is sequenced using NGS technology. The resulting data is then analyzed to identify any mutations or variations in the MLC-associated genes.

It is important to note that NGS testing may not always detect all mutations or variations in the genes associated with MLC. In some cases, additional testing or alternative genetic testing methods may be necessary for a definitive diagnosis.

Overall, NGS testing for megalencephalic leukoencephalopathy with subcortical cysts is a valuable tool in diagnosing this rare genetic disorder and can provide important information for treatment and management strategies.

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