Angelman Syndrome Methylation Test Cost & Procedure

Prader-Willi/Angelman Syndrome, DNA Methylation Analysis

In a patient who has a clinical suspicion of any of these conditions, this test will identify Prader-Willi or Angelman syndrome. The test finds methylation alterations in the area of chromosome 15 q11–13, which accounts for more than 99% of PWS and nearly 80% of AS.

Complex neurodevelopmental genetic disorders including Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are characterized by intellectual disability and developmental delay. The ubiquitin-protein ligase E3A (UBE3A) gene variations, imprinting errors, translocation problems or unknown causes result in the loss of function of maternally transmitted genes within 15q11.2-q13 that cause AS.

PWS is fetched on by omissions, maternal uniparental disomy, chromosomal translocations, imprinting anomalies, or failure of function of paternally conveyed alleles in the exact region (15q11.2-q13).

For early intervention, a definitive diagnosis of PWS or AS can be made through laboratory testing.

To determine the risk of recurrence, it is crucial to define the illness process through laboratory testing.

Indications for Testing AS and PWS laboratory testing can be used

• babies or kids with symptoms should be diagnosed with AS or PWS.
• Analyze the likelihood of recurrence in future children of parents of an AS or PWS patient.
• Keep track of PWS comorbidities and treatment side effects.

Laboratory Examination

Identification and Assessment of Recurrence Risk

Clinical parameters form the basis for the diagnosis of AS or PWS. In more than 99% of instances, laboratory testing supports a diagnosis of PWS.

whereas 90% of the time, laboratory testing can support the diagnosis of AS.

The illness process can be identified using the same techniques used for diagnosis, making it easier to calculate the probability of recurrence.

Metabolic Analysis

Utilizing methods such as methylation-sensitive polymerase chain reaction (PCR) or methylation-specific multiplex ligation-dependent probe amplification, the beginning and most sensitive examination for AS and PWS is the methylation investigation of 15q11.2-q13 (MS-MLPA).

Methylation analysis confirms PWS in >99% of people with symptoms that satisfy consensus criteria and identifies 80% of instances of AS.

MS-MLPA can be utilized to simultaneously examine methylation and copy number deviations, thereby differentiating between omissions that generate uniparental disomy and those that induce imprinting center deficiencies, even though methylation examination does not always detach the causative mechanism of AS or PWS.