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Cystic Fibrosis (CF): CFTR Deletion/Duplication Analysis
Deletion/duplication analysis using multiplex ligation-dependent probe amplification (MLPA) should be applied following CFTR sequencing analysis in cases where no mutations have been identified.
The MLPA platform detects full CFTR gene deletions and most multiple- and single-exon deletions and duplications but not balanced translocations or rearrangements that do not alter the copy number of the probe target sequences.
Multiplex ligation-dependent probe amplification (MLPA)
Blood, amniotic fluid, chorionic villus sample (CVS), cultured amniocytes
7 mL whole blood, 10 mL amniotic fluid, 10 mg CVS
Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube, or two confluent T-25 flasks for fetal testing.
Maintain specimen at room temperature.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|252900||CFTR Deletion/Duplication||69480-2||252901||CFTR Deletion/Duplication||69480-2|