Prader-Willi Syndrome Mutation Detection Methylation Specific PCR Test sale cost 1970 AED
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Prader-Willi Syndrome Mutation Detection Methylation Specific PCR Test

Original price was: 2,180 د.إ.Current price is: 1,970 د.إ.

-10%

Prader-Willi Syndrome (PWS) is a rare genetic disorder characterized by a range of physical, mental, and behavioral problems. A key feature of PWS is a constant sense of hunger, leading to chronic overeating and obesity. The syndrome results from abnormalities in chromosome 15, where specific genetic markers are either missing or unexpressed.

The Methylation Specific PCR (MSP) test is a crucial diagnostic tool for identifying Prader-Willi Syndrome. This test focuses on detecting abnormal methylation patterns in the DNA associated with PWS. Methylation is a chemical modification of DNA that can affect gene expression without changing the DNA sequence. In the case of PWS, certain regions on chromosome 15 undergo abnormal methylation, leading to the syndrome’s manifestation.

DNA Labs UAE offers this specialized MSP test for Prader-Willi Syndrome, providing a reliable means of diagnosis for families and individuals at risk. The test cost is set at 1970 AED. By conducting this test, healthcare providers can accurately diagnose PWS, enabling early intervention and management strategies to improve the quality of life for those affected by the syndrome.

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PRADER-WILLI SYNDROME MUTATION DETECTION METHYLATION SPECIFIC PCR Test

Test Name: PRADER-WILLI SYNDROME MUTATION DETECTION METHYLATION SPECIFIC PCR Test

Components: Price: 1970.0 AED

Sample Condition: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Report Delivery: SampleSat by 11 am; Report 12 Working days

Method: Methylation specific PCR

Test type: Genetic disorders

Doctor: Pediatrician

Test Department: MOLECULAR DIAGNOSTICS

Pre Test Information: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Test Details

Prader-Willi Syndrome (PWS) is a genetic disorder caused by the loss of function of certain genes on chromosome 15. One of the diagnostic methods for PWS is the detection of specific DNA methylation patterns associated with this syndrome.

Methylation-specific PCR (MSP) is a commonly used test to detect DNA methylation patterns and can be used for PWS mutation detection. MSP is a PCR-based method that specifically amplifies DNA sequences based on their methylation status. It utilizes two sets of primers, one specific for methylated DNA and the other specific for unmethylated DNA. By using these primers, MSP can selectively amplify either methylated or unmethylated DNA sequences.

In the case of PWS mutation detection, MSP is used to detect the methylation status of specific DNA regions on chromosome 15 that are associated with PWS. These regions include the SNRPN (small nuclear ribonucleoprotein polypeptide N) gene and the IC (imprinting center) region. Methylation abnormalities in these regions are indicative of PWS.

The MSP test for PWS mutation detection involves several steps:

  1. DNA extraction: DNA is extracted from the patient’s blood or other tissue samples.
  2. Bisulfite conversion: The extracted DNA is treated with sodium bisulfite, which converts unmethylated cytosine residues to uracil while leaving methylated cytosines unchanged. This conversion is necessary to distinguish between methylated and unmethylated DNA.
  3. PCR amplification: Two separate PCR reactions are performed, one using primers specific for methylated DNA and the other using primers specific for unmethylated DNA. These primers are designed to target the regions of interest on chromosome 15 associated with PWS.
  4. Gel electrophoresis: The PCR products are separated by size using gel electrophoresis. The presence or absence of specific PCR products indicates the methylation status of the DNA regions being tested.
  5. Interpretation: The methylation patterns observed in the gel electrophoresis can be compared to known normal and PWS methylation patterns to determine if there are any abnormalities associated with PWS.

MSP is a sensitive and specific method for detecting DNA methylation patterns associated with PWS. It can be used as a diagnostic tool to confirm the presence of PWS in individuals suspected of having this disorder. However, it is important to note that MSP alone cannot detect all PWS cases, as there are other genetic abnormalities that can cause PWS. Therefore, additional genetic testing may be required for a definitive diagnosis.

Test Name PRADER-WILLI SYNDROME MUTATION DETECTION METHYLATION SPECIFIC PCR Test
Components
Price 1970.0 AED
Sample Condition 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Report Delivery SampleSat by 11 am;Report 12 Working days
Method Methylation specific PCR
Test type Genetic disorders
Doctor Pediatrician
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Test Details

Prader-Willi Syndrome (PWS) is a genetic disorder caused by the loss of function of certain genes on chromosome 15. One of the diagnostic methods for PWS is the detection of specific DNA methylation patterns associated with this syndrome. Methylation-specific PCR (MSP) is a commonly used test to detect DNA methylation patterns and can be used for PWS mutation detection.

MSP is a PCR-based method that specifically amplifies DNA sequences based on their methylation status. It utilizes two sets of primers, one specific for methylated DNA and the other specific for unmethylated DNA. By using these primers, MSP can selectively amplify either methylated or unmethylated DNA sequences.

In the case of PWS mutation detection, MSP is used to detect the methylation status of specific DNA regions on chromosome 15 that are associated with PWS. These regions include the SNRPN (small nuclear ribonucleoprotein polypeptide N) gene and the IC (imprinting center) region. Methylation abnormalities in these regions are indicative of PWS.

The MSP test for PWS mutation detection involves several steps:

1. DNA extraction: DNA is extracted from the patient’s blood or other tissue samples.

2. Bisulfite conversion: The extracted DNA is treated with sodium bisulfite, which converts unmethylated cytosine residues to uracil while leaving methylated cytosines unchanged. This conversion is necessary to distinguish between methylated and unmethylated DNA.

3. PCR amplification: Two separate PCR reactions are performed, one using primers specific for methylated DNA and the other using primers specific for unmethylated DNA. These primers are designed to target the regions of interest on chromosome 15 associated with PWS.

4. Gel electrophoresis: The PCR products are separated by size using gel electrophoresis. The presence or absence of specific PCR products indicates the methylation status of the DNA regions being tested.

5. Interpretation: The methylation patterns observed in the gel electrophoresis can be compared to known normal and PWS methylation patterns to determine if there are any abnormalities associated with PWS.

MSP is a sensitive and specific method for detecting DNA methylation patterns associated with PWS. It can be used as a diagnostic tool to confirm the presence of PWS in individuals suspected of having this disorder. However, it is important to note that MSP alone cannot detect all PWS cases, as there are other genetic abnormalities that can cause PWS. Therefore, additional genetic testing may be required for a definitive diagnosis.

SKU: TEST-5081 Category:

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