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UW Health SMPH
American Family Children's Hospital

UW Hospital and Clinics Lab Test Directory

Test Name: Methylation Specific PCR

Test Code(s): SLH889 / HCSLH889

CPT Code(s): 81331

Clinical Significance: Detects deletion 15q, uniparental disomy 15, and abnormal gene methylation associated with Prader Willi Syndrome and Angelman Syndrome. Not seen in regular cytogenetics.

Testing Site: Testing will be sent to an approved reference laboratory.

Days Performed: Mon-Sat.

Turnaround Time: Routine: 10 - 14 days.


Specimen Requirements

Specimen: Blood

Collection Instructions: This blood must be received and processed by WSLH within 48 hours of collection.  Blood must be received by the Core Laboratory Monday-Friday.

Collection Container: Preferred: Lavender top

Collection Volume: Preferred: 4 mL
Pediatrics: 2 mL

Sample Analyzed: Whole Blood

Specimen Processing: Blood should be refrigerated until transported to Wisconsin State Laboratory of Hygiene.

Specimen Transport: Transport specimen to UWHC Core Laboratory (B4/220). Transport with coolant pack if coming from outreach location.  

Unacceptable Criteria: Blood that is clotted or frozen. Plasma and serum are not acceptable.

Stability: Ambient: 48 hours
Refrigerated: 48 hours
Frozen: Not acceptable


Interpretation

Report provides interpretation.

Additional Information:

Methylation specific PCR is the primary test for Prader-Willi Syndrome.  If patient has abnormal results by PCR test, then the FISH deletion test can be used to differentiate between deletion and uniparental abnormalities.

MS-PCR SNRPN gene 15q
MSPCR
cytogenetics
PRADER-WILLI
ANGELMANN SYNDROME

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