This test is essential if your child shows symptoms like developmental delays, feeding difficulties, poor muscle tone, or unusual behaviors that may indicate Prader-Willi or Angelman Syndrome. It analyzes DNA methylation patterns to identify the genetic cause of these conditions, providing clarity when other tests haven't given answers. Families often use this test when doctors suspect one of these syndromes based on physical and developmental signs but need genetic confirmation for proper treatment planning.
What's included in this test?
This specialized test examines the DNA methylation pattern in a specific region of chromosome 15 to detect genetic abnormalities that cause Prader-Willi or Angelman Syndrome. It can identify the most common genetic causes including deletions, uniparental disomy, and imprinting defects that affect this chromosomal region. This analysis provides definitive genetic diagnosis when clinical symptoms suggest one of these syndromes, helping distinguish between them since they affect the same chromosomal area but cause different conditions.
What happens after I get my results?
You'll receive detailed doctor notes in plain language explaining what the genetic findings mean and whether Prader-Willi or Angelman Syndrome was detected. These notes include guidance on next steps, such as connecting with genetic counselors, specialists, or support groups specific to the diagnosed condition. You'll also get the standard lab report, and having this genetic confirmation helps your healthcare team develop the most appropriate treatment and management plan for your child's specific needs.
Who should consider getting this test?
This test is recommended for children showing signs like severe feeding problems in infancy followed by excessive eating later, developmental delays, intellectual disability, or distinctive facial features. It's also appropriate for individuals with poor muscle tone, speech difficulties, sleep disorders, behavioral issues, or movement problems that suggest a genetic syndrome. Your pediatrician or geneticist will typically order this test when clinical symptoms point toward Prader-Willi or Angelman Syndrome but genetic confirmation is needed.
What symptoms indicate my child may need this test?
For Prader-Willi Syndrome, watch for severe feeding difficulties and poor weight gain in infancy, followed by insatiable appetite and rapid weight gain after age 2, along with developmental delays and low muscle tone. For Angelman Syndrome, signs include delayed development, lack of speech or minimal speech, balance and movement problems, frequent laughing or smiling, and excitable personality. Both conditions may show intellectual disability, sleep problems, and distinctive physical features that prompt doctors to recommend genetic testing.
What is DNA methylation and why does it matter for these syndromes?
DNA methylation is a chemical modification that controls whether certain genes are turned on or off without changing the DNA sequence itself. In Prader-Willi and Angelman Syndromes, abnormal methylation patterns in the chromosome 15 region cause specific genes to not work properly, leading to the developmental and physical symptoms of these conditions. This test detects these abnormal patterns, making it highly accurate for diagnosing both syndromes even when other genetic tests might miss certain types of mutations.
What happens if the test confirms Prader-Willi or Angelman Syndrome?
A confirmed diagnosis helps your healthcare team create a comprehensive management plan tailored to your child's specific condition. For Prader-Willi Syndrome, this includes growth hormone therapy, strict dietary management, physical therapy, and behavioral support. For Angelman Syndrome, treatment focuses on physical therapy, speech therapy, behavioral therapy, and seizure management if needed. Early diagnosis allows for earlier intervention, which can significantly improve outcomes and quality of life.
How can families support a child with these syndromes?
Connect with specialized support groups and organizations dedicated to Prader-Willi or Angelman Syndrome for resources, guidance, and community support. Work closely with a multidisciplinary medical team including geneticists, endocrinologists, therapists, and behavioral specialists who understand these conditions. Establish structured routines, particularly around meals and sleep for Prader-Willi Syndrome, and create a safe, supportive environment that accommodates developmental needs while celebrating your child's unique strengths and personality.
Can this test distinguish between Prader-Willi and Angelman Syndrome?
Yes, this DNA methylation test can identify which syndrome is present because each has a distinct methylation pattern in the chromosome 15 region. Prader-Willi Syndrome results from loss of function of genes inherited from the father, while Angelman Syndrome results from loss of genes inherited from the mother in the same chromosomal area. The test reveals which parental genes are affected, providing a clear diagnosis that guides appropriate treatment and management strategies.
Are there other family members who should be tested?
In most cases, Prader-Willi and Angelman Syndromes occur spontaneously and are not inherited from parents, so routine family testing isn't usually necessary. However, genetic counseling is recommended after diagnosis to understand the specific genetic mechanism involved and assess recurrence risk for future pregnancies. In rare cases where the cause is an inherited chromosome rearrangement, parents and siblings may benefit from genetic evaluation to understand family planning implications and recurrence risks.
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Demo results
Chromosome 15 Methylation PatternNegative
Demo results
NegativePositive
Negative
What this means
Your test came back negative, meaning no abnormal DNA methylation patterns associated with Prader-Willi or Angelman Syndrome were detected. This is the normal and expected result, indicating these specific genetic syndromes are not present.
Recommended actions
Discuss results with your geneticist or pediatrician to explore other potential causes of symptoms
Continue monitoring developmental milestones and report any new concerns to your healthcare provider
Consider additional genetic testing if symptoms persist and clinical suspicion remains high
Maintain regular pediatric checkups to ensure proper growth and development
* Regular blood test results (e.g., CBC) typically start arriving the next business day after sample collection. More complex tests, such as hormone panels, may take up to 10–15 business days due to their complexity.
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