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Pathology

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pawsPathologyManual: Angelman Syndrome/Prader-Willi

Lonic Code

 

Test Name

Angelman Syndrome/Prader-Willi

Synonyms

PWAS, ASPW, Prader-Willi/Angelman Syndrome, Methylation Studies, Angelman Syndrome/Prader-Willi

Test Consists

Prader-Willi, Angelman deletions

Specimen Requirements

4.0 mL blood

Volume and Container

4.0 mL purple top EDTA blood tube

Storage and Transport

EDTA whole blood stored refrigerated until ready for transport to reference laboratory

Critical Values

 

Causes for Rejection

Specimens other than EDTA whole blood, specimens collected beyond 96 hours of collection

Turn Around Time

14-21 business days from time of collection

Availability

Monday-Thursday from 1 pm-4 pm ONLY, except observed holidays

CPT / HCPCS Code

83891, 83892x2, 83900, 83909x2, 83912, 83914x25

Medicare Fee

 

Comments

 

Row Stamp

38,838,607

Last Updated

 

Volume

 

Minimum Volume

 

Indications

Confirmation of diagnosis in patients suspected of having either PWS or AS based on clinical assessment or previous laboratory analysis. 

Professional Fee

 

Tech Charge

 

Total Fee

 

Special Instructions

 

Lab

Reference laboratory.  Call 1-2399 or 1-3799 for further information

Schedule

 

Request Form

 

Methodology

MLPA

Patient Prep

 

Post Processing

 

Collection Guidelines

 

Reference Range

See reference lab report

Limitations and Contraindications

 

Interpretation

Maternal uniparental disomy for chromosome 15 or a deletion of 15q11.2-q13 from the paternally derived chromosome 15 is strongly supportive of the clinical diagnosis of PWS.  Paternal uniparental disomy for chromosome 15 or a deletion of 15q11.2-q13 from the maternally derived chromosome 15 is strongly supportive of the clinical diagnosis of AS.  The occurence of uniparental disomy is, however, rare in AS.

Additional Information

 

CPOE Test Name

Ref Misc Referral Lab Test, type ASPW in Test Name REF

Status

1

AUDIT_DEL

 

Attachments

Created at 9/8/2014 5:57 PM by Bradshaw, Keir
Last modified at 9/8/2014 5:57 PM by Bradshaw, Keir