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| 94230:PRADER WILLI/ANGELMAN SYNDROME | |||||||||
| Methodology: | Methylation | ||||||||
| Edit Date: | 2/2/2009 | ||||||||
| Performed: | Varies | ||||||||
| Released: | 14 days after setup at PeaceHealth Laboratories’ reference lab. | ||||||||
| CPT Code: | 83891-905E / 83892-905E / 83894-905E / 83912-905E | ||||||||
| Specimen Collection Details | |||||||||
| Collection: | CHILD: One 4 mL lavender top tube (EDTA). ADULT: Two 4 mL lavender top tube (EDTA). Also acceptable: One 8.5 mL yellow top tube (ACD-A) | ||||||||
| Handling: | Do not spin. Send as whole blood. Include diagnostic indications for testing. | ||||||||
| Stability: | 7 days ambient or 7 days refrigerated. Unstable frozen. | ||||||||
| Standard Volume: | CHILD: 4 mL whole blood. ADULT: 8 mL whole blood. | ||||||||
| Minimum Volume: | 4 mL whole blood (child or adult). | ||||||||
| Transport: | Ambient. | ||||||||
| Comments: | Prader-Willi syndrome (PWS) is characterized by hypotonia, failure to thrive in infancy, rapid weight gain/obesity between 12 months and 6 years, characteristics of PWS, or pregnancies at risk due to a known translocation or imprinting mutation. Angelman syndrome (AS) is characterized by severe developmental delay/mental retardation, absence of speech, ataxic gait, inappropriate laughter, hand-flapping, and less frequently, microcephaly, and seizures. Indications for testing include clinical characteristics of AS or pregnancies at risk due to a known translocation or imprinting mutation. AS is not usually suspected in the first year of life, but becomes a consideration between 1-4 years of age. |
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| Rejection Criteria: | Frozen specimen, broken specimen tubes; clotted specimen. Specimen other than those specified above.
This test may require insurance company prior authorization before ordering.
Please check the prior authorization list . Failure to gain preauthorization may result in denial of coverage. |
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