Bisulfite conversion and PCR amplification to detect abnormal methylation patterns in the SNRPN gene.
Testing for or confirmation of diagnosis or suspicion of Prader-Willi or Angelman syndrome.
Interpretive report provided.
Causal mutations or alterations that do not affect SNRPN gene methylation imprinting status will not be detected by this assay.
14 - 21 days
- Generic Peds Genetics Test
- PWS/AS CRITICAL REGION M-PCR
- Prader-Willi / Angelman Methylation Analysis
- Prader-Willi / Angelman Methylation PCR
- SNRPN Methylation Analysis
- SNRPN Methylation PCR
- Prader-Willi Syndrome
- Angelman Syndrome
- BIOCH GEN REPORT
- BIOCHEMICAL GENETICS REPORT
- PWS/AS crit reg M-PCR Shadow
- Autism / Intellectual Disability
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
Aberrations in the 15q11-13 critical region including deletions, uniparental disomy, or rarely imprinting center mutations, account for 99% of individuals with Prader-Willi syndrome and approximately 80-85% of individuals with Angelman syndrome, and can be detected as abnormal methylation of the SNRPN gene. After an abnormal SNPRN result, additional analyses including FISH, UPD analysis and imprinting center sequencing may be needed to determine the molecular mechanism. By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.