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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.
Rejection Criteria:Frozen specimen, broken specimen tubes; clotted specimen. Specimen other than those specified above.

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