Nih Undiagnosed Diseases Program Clinical Lab

Summary Statement of Deficiencies D0000 A federal surveyor from the Centers for Medicare & Medicaid Services (CMS) Survey Branch conducted an announced CLIA recertification survey on June 16, 2026. The laboratory was found to not be in compliance with the following condition- level CLIA requirements: 493.1447 - Laboratory Technical supervisor 493.1487 - Testing Personnel The following condition and standard-level deficiencies were found. D5209 PERSONNEL COMPETENCY ASSESSMENT POLICIES CFR(s): 493.1235 As specified in the personnel requirements in subpart M, the laboratory must establish and follow written policies and procedures to assess employee and, if applicable, consultant competency. This STANDARD is not met as evidenced by: Based on a review of standard operating procedures (SOP), lack of a supervisory competency assessment procedure, and an interview with the laboratory director (LD), the laboratory failed to have a policy or procedure in place to assess the competency of 1 of 1 technical supervisor (TS) for their delegated responsibilities. Findings: 1. Review of the QA program documentation SOP on June 16, 2026, revealed the personnel competency section was for the assessment of competency for testing personnel and not the delegated responsibilities of the TS. 2. The laboratory failed to provide a policy or procedure for the assessment of competency for the TS listed on form CMS 209. 3. By interview on June 16, 2026, at 1:45 pm, the LD confirmed the TS was not assessed for their delegated responsibilities. 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 Statement of Deficiencies (X1) Provider/Supplier/CLIA Identification Number (X3) Date Survey Completed Name of Provider or Supplier Street Address, City, State -- 1 of 6 -- procedure it performs that is not included in subpart I of this part. This STANDARD is not met as evidenced by: Based on the lack of proficiency testing (PT) records and an interview with the laboratory director (LD), the laboratory failed to verify the accuracy of blood deoxyribonucleic acid (DNA) isolation at least twice annually for 2 of 2 years (2024 and 2025). Findings: 1. Review of the records on June 16, 2026, revealed that the laboratory failed to perform PT or verify the accuracy of Blood DNA isolation at least twice annually in 2 years (2024 and 2025). 2. By interview on June 16, 2026, at 1:30 pm the LD confirmed no verification of accuracy for Blood DNA isolation has ever been performed. D5413 TEST SYSTEMS, EQUIPMENT, INSTRUMENTS, REAGENT CFR(s): 493.1252(b) (b) The laboratory must define criteria for those conditions that are essential for proper storage of reagents and specimens, accurate and reliable test system operation, and test result reporting. The criteria must be consistent with the manufacturer's instructions, if provided. These conditions must be monitored and documented and, if applicable, include the following: (b)(1) Water quality. (b)(2) Temperature. (b)(3) Humidity. (b)(4) Protection of equipment and instruments from fluctuations and interruptions in electrical current that adversely affect patient test results and test reports. This STANDARD is not met as evidenced by: Based on the lack of temperature/humidity records, review of instrument instruction manuals, and an interview with the laboratory director (LD), the laboratory failed to monitor and document room temperature and humidity in the laboratory for 2 of 2 years (June 2024 to June 2026). Findings Include: 1. The Autogen - FlexSTAR manual stated, "Operating Temperature 15C to 30C and 30% to 80% relative humidity (RH), non-condensing". 2. The GE Healthcare NanoVue Plus Product user manual stated, "The instrument is designed for indoor use only, temperatures range 5 Degrees Celsius (C) to 35 C, maximum relative humidity 80% at 31C, decreasing linearity to 50% at 40C are required." 3. The life technologies Qubit 2.0 Fluorometer user guide stated, "product specifications, operating temperature 10-40C and operating humidity 20-80% (non-condensing). 4. The laboratory was unable to provide documentation of the room temperature and humidity monitored in the laboratory. 5. By interview on June 16, 2026 at 1:00 pm, the LD confirmed temperature and humidity were not monitored in the laboratory. D5429 MAINTENANCE AND FUNCTION CHECKS CFR(s): 493.1254(a)(1) (a)(1) Maintenance as defined by the manufacturer and with at least the frequency specified by the manufacturer. This STANDARD is not met as evidenced by: Based on a review of laboratory standard operating procedure (SOP), review of centrifuge maintenance documentation, and an interview with the laboratory director (LD), the laboratory failed to perform centrifuge function checks for 1 of 1 Eppendorf -- 2 of 6 -- 5810R centrifuge as specified in the test procedure. Findings Included: 1. The Extraction of genomic DNA from the human whole blood (Flexstar) SOP, 4. workflow notes, #3 stated, "....shall be spun down at 1000 g (RCF) for 10 minutes..."). 2. On June 16, 2026, at 12:45 pm, the laboratory provided documentation for function checks performed at 1000g at 5 minutes, but could not provide documentation to show the Eppendorf 5810R centrifuge could centrifuge a specimen at 1000g for 10 minutes. 3. By interview on June 16, 2026, at 1:00 pm, the LD confirmed that the function checked performed did not include the assessment of function at 1000g for 10 minutes. D5431 MAINTENANCE AND FUNCTION CHECKS CFR(s): 493.1254(a)(2) (a)(2) Function checks as defined by the manufacturer and with at least the frequency specified by the manufacturer. Function checks must be within the manufacturers established limits before patient testing is conducted. (b) Equipment, instruments, or test systems developed in-house, commercially available and modified by the laboratory, or maintenance and function check protocols are not provided by the manufacturer. The laboratory must do the following: This STANDARD is not met as evidenced by: Based on observations of the laboratory and an interview with the laboratory director (LD), the laboratory failed to perform the manufacturer-defined function checks for 2 of 2 thermometers in use. Findings: 1. Observation of the laboratory on June 15, 2026, at 1:00 pm revealed the following two thermometers in use, which monitored room temperature, were due for a function check: a. Thomas Scientific Traceable Thermometer S/N: 221612788 - Due: January 23, 2024. b. Lab Rep Co Thermometer, S/N: 240391930 - Due: May 13, 2026. 2. By interview on June 16, 2026, at 1:20 pm, the LD confirmed the 2 thermometers were due for a function check. D5781

Summary Statement of Deficiencies D0000 The Centers for Medicare and Medicaid Services (CMS) Philadelphia Regional Office Federal Surveyor conducted an announced routine CLIA recertification survey at NIH Undiagnosed Diseases Program Clinical Laboratory on November 19, 2020. The laboratory was surveyed under 42 CFR part 493 CLIA regulations. Specific deficiencies includes the following: D5219 EVALUATION OF PROFICIENCY TESTING PERFORMANCE CFR(s): 493.1236(c)(2) At least twice annually, the laboratory must verify the accuracy of any test or procedure listed in subpart I of this part for which compatible proficiency testing samples are not offered by a CMS-approved proficiency testing program. This STANDARD is not met as evidenced by: Based on staff interview and lack of documentation ,the laboratory failed to verify accuracy of testing samples with proficiency testing (PT) of a non-regulated analytes. Findings include: 1.On November 19, 2020 at approximately 12:00 pm, a record review of the laboratory's (PT) records revealed an absence of documentation for (PT) for non-regulated analytes. The surveyor asked, "Does the laboratory perform verification of accuracy of test for the Qubit 3.0 Fluorometer with blind testing or split samples or another methodology". The laboratory director (LD) stated, "Nothing is available for our testing. But I'm sure we can come up with something" 2.During the exit interview with the (TS) and (LD) on November 19, 2020 at 1:00 pm confirmed the above findings. D5415 TEST SYSTEMS, EQUIPMENT, INSTRUMENTS, REAGENT CFR(s): 493.1252(c) Reagents, solutions, culture media, control materials, calibration materials, and other supplies, as appropriate, must be labeled to indicate the following: (1) Identity and Statement of Deficiencies (X1) Provider/Supplier/CLIA Identification Number (X3) Date Survey Completed Name of Provider or Supplier Street Address, City, State -- 1 of 3 -- when significant, titer, strength or concentration. (2) Storage requirements. (3) Preparation and expiration dates. (4) Other pertinent information required for proper use. This STANDARD is not met as evidenced by: Based on the tour of the laboratory and interviews with the technical supervisor (TS) and testing person (TP), the laboratory failed to label reagents currently in use on the Flex Star automated isolation testing system with an open date and expiration date. Findings include: 1.A tour of the laboratory on November 19, 2020 at approximately 10:30 am revealed in-use reagents located on the FlexStar automated isolation testing system: FG3 FlexiGene Hydration Buffer with the no open date and expiration date on the container. 2.During an interview at 10:35 am with (TP), the surveyor asked "Are all in use reagents used for the FlexStar labeled with an open and expiration date?" The (TP) replied, "We could place a label on but we don't, just trust what I'm saying we change it so often." 3.During the exit interview with the (TS) and (LD) on November 19, 2020 at 1:00 pm confirmed the above findings. D5437 CALIBRATION AND CALIBRATION VERIFICATION CFR(s): 493.1255(a) Unless otherwise specified in this subpart, for each applicable test system the laboratory must perform and document calibration procedures-- (1) Following the manufacturer's test system instructions, using calibration materials provided or specified, and with at least the frequency recommended by the manufacturer; (2) Using the criteria verified or established by the laboratory as specified in 493.1253(b) (3)-- (2)(i) Using calibration materials appropriate for the test system and, if possible, traceable to a reference method or reference material of known value; and (2)(ii) Including the number, type, and concentration of calibration materials, as well as acceptable limits for and the frequency of calibration; and (3) Whenever calibration verification fails to meet the laboratory's acceptable limits for calibration verification. This STANDARD is not met as evidenced by: Based on the review of Thermo-Scientific NanoDrop performance verification procedures, lack of documentation and interview with testing person (TP) & technical supervisor (TS), the laboratory failed to perform and document calibration verification for the Thermo-Scientific NanoDrop One. Finding include: 1.On November 19, 2020 at approximately 11:00 am during a review of the laboratory's Thermo- Scientific NanoDrop protocols titled - S081 - Instructions NanoDrop One- "Performance Verification Check" revealed the following statements "Recommend Schedule: Every 6 months. Section Performance Check Procedure. Line 16 A Results can be exported &printed at this time or at a later time from the Data Viewer" 2.During an interview at 11:52am with the (TP), the surveyor asked for documentation for the NanoDrop performance verification checks. (TP) stated "We were logging it before, we didn't record and don't have those records." 3.During the exit interview with the (TS) and (LD) on November 19, 2020 at 1:00 pm confirmed the above findings. D6086 LABORATORY DIRECTOR RESPONSIBILITIES CFR(s): 493.1445(e)(3)(ii) The laboratory director must ensure that verification procedures used are adequate to determine the accuracy, precision, and other pertinent performance characteristics of -- 2 of 3 -- the method. This STANDARD is not met as evidenced by: Based on staff interview, review of the Thermo-Scientific NanoDrop One performance verification procedures, lack of documentation, the laboratory director (LD) failed to ensure verification performance procedures were performed for the Thermo-Scientific NanoDrop One according to the manufacture instructions. Findings Include 1. On November 19, 2020 at approximately 11:00 am, during a review of the laboratory's Thermo- Scientific NanoDrop protocols titled - S081 - Instructions NanoDrop One- "Performance Verification Check" revealed the following statements "Recommend Schedule: Every 6 months. Section Performance Check Procedure. Line 16 A Results can be exported &printed at this time or at a later time from the Data Viewer" 2. During an interview at 11:52 am with the (TP), the surveyor asked for documentation for the NanoDrop performance verification checks. (TP) stated "We were logging it before, we didn't record and don't have those records." 3. During the exit interview with the (TS) and (LD) on November 19, 2020 at 1:00 pm confirmed the above findings. -- 3 of 3 --

Summary Statement of Deficiencies 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 quality assessment records and interview with the laboratory director, the laboratory failed to put a system in place to verify the accuracy of the sequencing data analysis twice annually. Findings include: 1. Quality assessment records for 2017 did not include verification of accuracy of the sequencing analysis portion of the laboratory's testing. 2. The laboratory director confirmed at approximately 10:35 am on the day of the survey that he was the only person who performed the analysis and interpretation of the sequencing data and that no system was in place to verify the accuracy of that portion of the testing process. 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 standard operating procedures, review of electronic patient testing records and interview with the laboratory director, the laboratory failed to establish a written policy for monitoring the status of samples referred to other laboratories for DNA sequencing. Findings include: 1. The laboratory's Standard Operating Procedure entitled Interpretation, Validation and Returning of Results to Patients dated 09/12/16 Statement of Deficiencies (X1) Provider/Supplier/CLIA Identification Number (X3) Date Survey Completed Name of Provider or Supplier Street Address, City, State -- 1 of 2 -- states that, "The expected turn-around-time currently from the day the sequencing centers received the clinical specimens to when all data is 12 weeks or less." 2. During review of electronic patient testing records 1 of 1 record that was traced from start to finish showed that the sequencing results file had not been received, yet further investigation revealed in fact that the final result had been reported and that the sequencing data had been received. 3. The laboratory director stated at approximately 10:10 am on February 2, 2018 that the laboratory did not have a system in place for monitoring pending sequencing results. The laboratory director confirmed that the standard operating procedure did not address a mechanism for keeping track of samples that had been sent for sequencing but for which data had not been received. -- 2 of 2 --