Medical Genetics Diagnostic Laboratory

Summary Statement of Deficiencies D3027 RETENTION REQUIREMENTS CFR(s): 493.1105(a)(1) Test requisitions and authorizations. Retain records of test requisitions and test authorizations, including the patient's chart or medical record if used as the test requisition or authorization, for at least 2 years. This STANDARD is not met as evidenced by: Based on review of one patient testing record and interview with staff, the laboratory failed to ensure either the written or electronic test requisition and authorization for patient testing of Holoprosenchaly (HPE) or Muenke Syndrome were maintained for at least two years. Findings include: Cross-reference D5301. D5203 SPECIMEN IDENTIFICATION AND INTEGRITY CFR(s): 493.1232 The laboratory must establish and follow written policies and procedures that ensure positive identification and optimum integrity of a patient's specimen from the time of collection or receipt of the specimen through completion of testing and reporting of results. This STANDARD is not met as evidenced by: Based on review of the laboratory protocol, run worksheet, deoxyribonucleic acid (DNA) films and interview with staff, the laboratory failed to have established policies for specimen tube labelling that ensured positive identification (ID) and integrity of patient't specimens during performance of runs for detection of HPE and Muenke's Syndrome. Findings include: 1. The surveyor reviewed one patient run for detection of Holoproencephaly (Patient Sample ID = CLIA 528) and found that during sample testing for HPE, fifteen (15) different amplicons across four (4) genes (SHH, Statement of Deficiencies (X1) Provider/Supplier/CLIA Identification Number (X3) Date Survey Completed Name of Provider or Supplier Street Address, City, State -- 1 of 12 -- ZIC2, TGIF and SIX3) are part of the lab's screening process 2. The fifteen amplicons are listed as follows: SHH exon (ex)1; SHHex2; SHHex3A; SHHex3B; SIX3ex1B; SIX3ex2; TGIFex1; TGIFex2; TGIFex3; TGIFex6A; TGIFex6B; ZIC2ex1A; ZIC2ex1B; ZIC2ex2 and ZIC2ex3. 3. During reivew of sample CLIA#528, there was 15 seperate DNA films labelled for each amplicon and seven (7) samples ran along with each film. 4. There was no system on the run worksheets to indicate how 105 specimen alliqot microtainer tubes were to be identified to keep positive patient ID and integrity during sample processing and testing phase of the assay. 5. During interview with the lab director and technical supervisor at approximately 2:00pm, there was admission that the lab had no such system and testing personnel were allowed to create their own labelling system during a patient run. They also admitted and film evidence showed that often more than one patient sample was tested during an assay run. 6. The lab director also admitted that all sixty (60) patient samples tested in the last twelve months were handled in the same manner. D5217 EVALUATION OF PROFICIENCY TESTING PERFORMANCE CFR(s): 493.1236(c)(1) At least twice annually, the laboratory must verify the accuracy of any test or procedure it performs that is not included in subpart I of this part. This STANDARD is not met as evidenced by: Based on review of twice annual accuracy checks and interview with staff, the laboratory failed to have a written system to verify the accuracy of both the HPE and Muenke's system assays. Findings include: 1. The surveyor had described and shown evidence of twice annual accuracy checks by the technical supervisor. The technical supervisor described the process (and was shown use of via CLIA #528) as the first run of an suspect (rule/out-r/o) HPE or Muenke's case is a screening study, and if any of the suspect genes associated with either disease are positive, then the testing personnel repeat the study using only the amplicons positive on the screen. 2. The described procedure was not stated in their procedure manual. 3. During interview with the lab director and technical supervisor at approx. 2:15pm, there was an admission the staff could measure the accuracy of the assay at least twice annually, however this procedure was not described as such in their procedure manual. 4, The lab director also admitted that accuracy testing was handled in the same manner during years 2016 and 2017. D5300 PREANALYTIC SYSTEMS CFR(s): 493.1240 Each laboratory that performs nonwaived testing must meet the applicable preanalytic system(s) requirements in 493.1241 and 493.1242, unless HHS approves a procedure, specified in Appendix C of the State Operations Manual (CMS Pub. 7), that provides equivalent quality testing. The laboratory must monitor and evaluate the overall quality of the preanalytic systems and correct identified problems as specified in 493. 1249 for each specialty and subspecialty of testing performed. This CONDITION is not met as evidenced by: Based on review of patient testing records, the procedure manual, and interview with staff, the laboratory failed to ensure requests for patient testing for mutational screening for holoprosencephaly and muenke's syndrome, included either a written or -- 2 of 12 -- electronic request for patient testing from an authorized person (D5301) and have written and established specific monitors to periodically evaluate the overall quality of the preanalytic systems and correct problems in a timely manner when identified (D5391). Findings include: See D5301 and D5391. D5301 TEST REQUEST CFR(s): 493.1241(a) The laboratory must have a written or electronic request for patient testing from an authorized person. This STANDARD is not met as evidenced by: Based on review of patient submission contents, the procedure manual and interview with staff, the laboratory failed to ensure it had a written or elecronic request for patient HPE screening for fourty-three (43) samples received for testing, from March 27, 2016 through the date of the survey, from an authorized person. Findings include: 1. The surveyor's review of 60 samples submitted from March 27, 2016 to the date of the survey, 43 samples (CLIA #s 482 - 487, 489, 495, 503 - 507, 509-525 and 528- 542) did not contain either a written or electronic request for patient testing from an authorized person. 2. The lab procedure stated only that related to Test Request Instructions, "The request to perform a laboratory test must be a written order generated by the requesting physician/genetic couselor." 3. Interview with the lab director, clinical consultant and technical supervisor at approximetely 11:00am confirmed the lab was relying on the genetic counselor's submitted medical history, clinical manifestations documentation and patient consent for testing, as the written /electronic request. It was also admitted that all 60 patient samples tested since March 27, 2016 were received with a genetic counselor's request. D5391 PREANALYTIC SYSTEMS QUALITY ASSESSMENT CFR(s): 493.1249(a) The laboratory must establish and follow written policies and procedures for an ongoing mechanism to monitor, assess, and when indicated, correct problems identified in the preanalytic systems specified at 493.1241 through 493.1242. This STANDARD is not met as evidenced by: Based on review of the laboratory Quality Assessment (QA) Plan and interview with staff, the laboratory failed to have written policy and procedures in the form of pre- analytic monitors which would monitor, assess, and if needed, correct problems identified with their not ensuring a written or electronic request for HPE or Muenke Syndrome testing, was received prior to patient testing. Findings include: Cross- reference D5301. D5400 ANALYTIC SYSTEMS CFR(s): 493.1250 Each laboratory that performs nonwaived testing must meet the applicable analytic systems requirements in 493.1251 through 493.1283, unless HHS approves a procedure, specified in Appendix C of the State Operations Manual (CMS Pub.7), that provides equivalent quality testing. The laboratory must monitor and evaluate the overall quality of the analytic systems and correct identified problems as specified in -- 3 of 12 -- 493.1289 for each specialty and subspecialty of testing performed. This CONDITION is not met as evidenced by: Based on review of patient testing records, the procedure manual, and interview with staff, the laboratory failed to have documented laboratory testing records for mutational screening for holoprosencephaly and muenke's syndrome, that included: (1) written procedures describing the type, identify, number, frequency of positive controls incorporated into the patient runs, limits of acceptability and the process to retrieve and interpret results of parts of the testing process not performed in-house (D5403); (2) the analytic system produced accruate results when changes were made to streamline the sequencing procedure (D5423); (3) the quality control system included positive quality controls during both the screening extraction processes (D5453) and, (4) molecular aplification processes of the assays (D5455); (5) twice annual parallel testing for two thermocyclers used during patient testing (D5775); and (6) have written and established specific monitors to periodically evaluate the overall quality of the preanalytic systems and correct problems in a timely manner when identified (D5791). Findings include: See D5403; D5423; D5453; D5455; D5775 and D5791. D5403 PROCEDURE MANUAL CFR(s): 493.1251(b) The procedure manual must include the following when applicable to the test procedure: (1) Requirements for patient preparation; specimen collection, labeling, storage, preservation, transportation, processing, and referral; and criteria for specimen acceptability and rejection as described in 493.1242. (2) Microscopic examination, including the detection of inadequately prepared slides. (3) Step-by-step performance of the procedure, including test calculations and interpretation of results. (4) Preparation of slides, solutions, calibrators, controls, reagents, stains, and other materials used in testing. (5) Calibration and calibration verification procedures. (6) The reportable range for test results for the test system as established or verified in 493.1253. (7) Control procedures. (8)