22q11.2 MLPA
- Synonyms: DiGeorge Syndrome MLPA; Velocardiofacial syndrome MLPA; Rhabdoid tumor deletion MLPA; 22q11.2 deletion MLPA
- LIS Mnemonic: CM22QMLPA
Collect
Purple (EDTA)
Volume Required
2cc
Minimum Required
1cc
Transport
Room Temperature
Stability
N/A
Processing
N/A
Unacceptable conditions
N/A
Days Performed
Monday - Friday
Reported
2-3 weeks
Reflex Testing
High resolution SNP array analysis may be indicated if a patient with a suspected 22q11.2 deletion has a normal MLPA result. Chromosome analysis to identify a structural rearrangement may be indicated.
CPT
83891, 83900, 83901 (X 16), 83909
Methodology
DNA isolation and multiplex ligation dependent probe amplification analysis using a kit from MRC-Holland.
Remarks
Please make sure that the blood sample is labeled clearly for delivery to the Cancer Cytogenetics Laboratory in 1003D Abramson Research Center. Phone the laboratory to alert the staff at 215-590-5257 that a specimen is being sent.
Contact Us
- (215) 590-5257
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