PERKINELMER NEONATAL GALT KIT

Additional Manufacturer Narrative

REPEAT QC RELEASE TESTING WAS PERFORMED ON KIT LOT 601843 ON (B)(4) 2010, AND THE RESULTS COMPARED TO ORIGINAL QC RELEASE TESTING (DATE 05/04/2010). NO SIGNIFICANT DIFFERENCES WERE IDENTIFIED BETWEEN THE TWO RESULTS. THE REPEAT QC RELEASE TESTING RESULTS MET SPECIFICATIONS. THIS INDICATES THERE IS NO REASON TO SUSPECT A STABILITY PROBLEM WITH THIS KIT LOT. ONGOING STABILITY DATA WAS REVIEWED AND NO DISCREPANCIES WERE NOTED IN THE PRODUCT STABILITY. SHIPPING AND DELIVERY DOCUMENTS AND CONDITIONS WERE REVIEWED. THE PROCESS FOR SHIPPING THESE KITS WERE FOUND TO BE COMPLIANT WITH STANDARD OPERATING PROCEDURE. THE INTENDED USE OF THE KIT IS FOR THE (SEMI-QUANTITATIVE) DETERMINATION OF GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE (GALT) CONCENTRATIONS IN BLOOD FROM SPECIMENS COLLECTED AND DRIED ON FILTER PAPER AS AN AID IN SCREENING NEWBORNS FOR CLASSICAL GALACTOSEMIA CAUSED BY GALT DEFICIENCY. THE KIT INSERT ALSO STATES THAT THE TEST IS NOT DESIGNED TO SCREEN FOR GALT HETEROZYGOSITY. WHEN ESTABLISHING REFERENCE RANGES, LABORATORIES ARE REQUESTED TO TAKE INTO ACCOUNT THE POPULATION SCREENED USING THIS TEST, THE DISTRIBUTION OF NORMAL VERSUS DISEASED POPULATION, THE FDA CLEARED INTENDED USE OF THE KIT AND THE TYPICAL KIT PERFORMANCE AS STATED IN THE KIT INSERT. THE KIT INSERT STATES THAT TYPICAL TOTAL VARIATION OF NEONATAL GALT NG-4100 AT A CONCENTRATION RANGE OF 1.8 U/GHB IS 23.7%. THE CUT-OFFS USED BY THE LABORATORY FOR THIS EVENT WERE ESTABLISHED IN 2006, BASED ON THE LABORATORY'S SCREENING DATA TO THAT PERIOD OF TIME USING NG-4100 KIT. THE LAB DETERMINED A BORDERLINE RANGE OF 2.01 - 2.49 U/GHB, WHICH COULD BE CONSIDERED TOO NARROW, DIFFERING SIGNIFICANTLY FROM 2.5 - 3.5 U/GHB THAT IS GIVEN AS A GUIDELINE IN THE KIT INSERT.

Description of Event or Problem

ON (B)(4) 2010, PERKINELMER RECEIVED THE COMPLAINT FROM THE (B)(6) LAB. A FEMALE BABY WAS BORN (B)(6) 2010 AT (B)(6) HOSPITAL AND THE NEWBORN SCREENING (NBS) SPECIMEN WAS COLLECTED AT THE AGE OF (B)(6). THE NBS RESULT WAS IN THE NORMAL RANGE FOR GALT (GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE) ESTABLISHED BY THE (B)(6) LABORATORY. ON (B)(6) 2010, THE BABY WAS TRANSFERRED TO (B)(6) HOSPITAL AND THE SECOND NBS SPECIMEN WAS COLLECTED THE PEDIATRICIAN RECOGNIZED SYMPTOMS OF GALACTOSEMIA AND STARTED TREATMENT IMMEDIATELY. THE GALT RESULTS FOR THE SECOND SPECIMEN WAS BORDERLINE, AS WAS THE REPEAT TEST OF THE FIRST SPECIMEN. ON (B)(6) 2010, THE BABY WAS TRANSFERRED TO (B)(6) HOSPITAL WHERE A STAT SPECIMEN WAS COLLECTED FOR GENETIC TESTING AND GALT. THE TEST RESULT WAS POSITIVE FOR GALT AND PCR SHOWED A HOMOZYGOUS Q188R MUTATION CONFIRMING CLASSICAL GALACTOSEMIA. THE SECOND SPECIMEN AND STAT SPECIMEN WERE REPEAT TESTED FOR GALT ON (B)(6) 2010. THE SECOND SPECIMEN REPEAT WAS POSITIVE FOR GALT AND THE STAT SPECIMEN REPEAT RESULT WAS BORDERLINE. ON (B)(6) 2010, THE BABY WAS DISCHARGED FROM THE HOSPITAL AND IS REPORTED TO BE DOING WELL.