Angelman/Prader Willi Syndrome by MS-MLPA
Use
This test is designed for individuals displaying features of Angelman syndrome, Prader-Willi syndrome, or 15q duplication syndrome. It also serves to confirm cases with a 15q11.2q13 deletion identified by other methods like chromosomal microarray or FISH. Such confirmations are crucial for precise diagnosis and treatment planning.
Special Instructions
Not provided.
Limitations
This test does not cover all possible genetic variations associated with Angelman, Prader-Willi, or related syndromes. It focuses exclusively on the detectable methylation patterns and potential deletions or duplications in the specific chromosomal region. Incomplete or degraded specimens might lead to inconclusive or false results. Additional tests may be recommended depending on clinical presentation and initial findings.
New York Approved
Methodology
Other (Methylation-Specific Multiplex Ligation-Dependent Probe Amplification)
Biomarkers
UBE3A, SNRPN
Gene
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided