INSTITUTE OF HUMAN GENETICS National Institutes of Health University ofthe Philippines Manila “The Health Science Center” DOC CODE: BGL-GL-i5 GUIDELINES Revision No. 00 BIOCHEMICAL GENETICS | Protocols for Specimen Handling | Effectivity Date: 03 April 2017 LABORATORY and Collection for ENBS on ection Confirmatory Tests Page 1 of 4 andes jing. Con 4. Urine Organic Acid Analysis 2, Plasma Amino Acid Analysis 3, Plasma Acylearnitine Quantitation 4, Tetrahydrobiopterin (BH) Deficient Hyperphenylalaninemia (Taiwan) [DNA analysis of 6-Pyruvovyl Tetrahydropterin Synthase Deficient Hyperphenylalaninemia and Urine Pterins}** net es Hecti In acquiring good and accurate results, one main factor to consider is the proper collection and handling of specimens/samples. t is an integral part in obtaining a valid and timely laboratory test result. Blood samples and its components must be obtained using proper phlebotomy techniques, collected in a proper container and anticoagulant, correctly labeled and proper transport to the laboratory. While urine samples must be obtained in a sterile procedure using sterile urine container with no preservatives added and proper transport as well. Specimen Requirements: BLOOD (Plasma Amino Acid Analysis and Plasma Acylcarnitine Quantitation) a. Prior to collection, review the appropriate test, identify the patient and explain the procedure you will be performing, . Aseptically draw venous blood at least 4ml into a Lithium-Heparin or Sodium-Heparin tube (Green Top) and mix the tube well. c. Tube must be thoroughly mixed by gentle inversion for 10-15 seconds. d. Label the tube with the name of the patient, the time and date of collection and the initial or sign of the phlebotomist collecting the specimen. fe. Centrifuge the blood sample at 2700 rpm for 10 mins at 40C. coagulated tube. g. Discard the pellet and store the plasma at -80eC freezer. Make sure proper labeling was done during separation of plasma and the red cell. ‘h. Transport the frozen plasma within 24 hours with ice. reme temperature should be avoided if sampl ‘transported. Serenetemperstre stone SULLED DOCUMENTINSTITUTE OF HUMAN GENETICS National Institutes of Health University of the Philippines Manila "The Health Science Center” DOC CODE: BGL-GL-15 Revision No. 00 Effectivit and Collection for ENBS Confirmatory Tests Section Page 2 of 4 URINE (Organic Acid Analysis) | a. Prior to collection, review the appropriate test, identify the patient and explain the procedure you will be performing. Collect 30-50m! urine sample aseptically. For newborn and infants, you may use sterile pediatric urine collector bag, If urine sample cannot be collected in a single draw, transfer the collected urine from the bag into a sterile container, indicate the name of the patient and the time and date collected and store it in - 200 freezer. Perform the same for the rest of the collected urine until you reached the desired amount for the test. | 4. ‘Transport the frozen urine within 24 hours with ice. fe. Extreme temperature should be avoided if samples are transported. “BLOOD AND URINE (DNA analysis of 6-Pyruvovyl Tetrahydropterin Synthase Deficient Hyperphenylalaninemia and Urine Pterins) Blood a. Aseptically draw venous blood at least 1ml into a Lithium-Heparin or Sodium-Heparin tube {Green Top) and mix the tube well. b. Spot the heparinized blood on Guthrie card (filter card). Make sure to soak the blood through the circle of the filter card. Do not apply blood twice to a same circle Dry for a minimum of 4 hours at room temperature and avoid exposure to heat and light. Correct: Incorrect: fe, Send Dried Blood Spots in a clean and unused envelope. Urine | a. Collect 20 ml urine sample aseptically. b, Store the collected urine in -200C freezer and wrap it with carbon paper to avoid exposure to light. c. ‘Transport the frozen urine within 24 hours with ice. d, Extreme temperature should be avoided if samples are transported. UNCON?T? TLLED DOCUMENTUniversity of the Philippines Manila “The Health Science Center" INSTITUTE OF HUMAN GENETICS ee onal nstts or eath ©) DOC CODE: BGL-GL-15 GUIDELINES Revision No. 00 BIOCHEMICAL GENETICS | Protocols for Specimen Handling | Effectivity Date: 03 April 2017 LABORATORY and Collection for ENBS 5 ection Confirmatory Tests Page 3 of & ‘Sample Referral: 1. The newborn screening center (NSC) is to endorse the referral to the Biochemical Genetics laboratory. 2, Endorsement shall be done at least one (1) day before expected sample submission. 3. Endorsement shall be made via email to BG lab biochemicalgenetics-Ihg@postupm.edu.ph or upmedu 4. Submission of specimen for overseas test is during Mondays only. 5. Endorsement shall include the following: A. Patient's name B, Date of birth ©. Gender D. Mother's name E.Specific requested test/s F. Newborn screening results (soft copy of official results) 6. Send the specimens via overnight transport (FedEx, Air21, LBC or DHL) to: Biochemical Genetics Laboratory Institute of Human Genetics National Institutes of Health Building University of the Philippines Manila 625 Pedro Gil Street, Ermita Manila 1000 7. Should you have any other questions, comments and concerns, you call Biochemical Genetics Laboratory at: 1-17-80 local 103 (Lar )-64 (Labor: 2) ditional T alysis Ci 1. The BG laboratory shall inform the corresponding NSC should it be deemed necessary to add other BG test/s based on the patient's profile and other clinical features laboratory results, for guidance, approval, and charging. 2, ‘The referring NSC shall be notified at once regarding samples which are not fit : for analysis (please refer to BG lab guidelines on criteria for specimen/sample acceptance/rejection) for immediate action. 3, Any other discrepancy and/or concern shall likewise be communicated, clarified, ‘acted upon, and documented accordingly. 4, For confirmatory tests which necessitate sending out the sample/s overseas (Le. urine Pterins), Biochemical Genetics Laboratory shall advance the payment of the cost for the test done and the courier fee from its petty cash. All fees shall be included in the monthly charge slip of Expanded Newborn Screen UNCONTROLLED DOCUMENT.= Se INSTITUTE OF HUMAN GENETICS National Institutes of Health University ofthe Philippines Manila "The Health Science Center” DOC CODE: BGL-GL-i5 Revision No. 00 Effectivity Date: 03 April 2017 GUIDELINES Protocols for Specimen Handling and Collection for ENBS Confirmatory Tests arent BIOCHEMICAL GENETICS LABORATORY Results: In some cases, particularly those whose profiles highly suggest positive results and require immediate management, preliminary results shall be communicated via phone, emall, or other means to the referring center, and documented accordingly. ‘This can only be done by the laboratory head or team captain (as approved by the laboratory head). 2, The laboratory shall send vie email the results ofthe tests upon availability to the NSC program manager/authorized NSC recipient. Turn-around time shall be within 7 working days depending from sample reception, Running day of the test will be: a. Urine Organic Acid analysis - Tuesdays and Thursdays b. Plasma Amino Acid analysis - Mondays and Wednesdays c. Plasma Acyclcarnitine Quantitation - Wednesdays 3. Hard copy of results shall be sent-out/mailed to the corresponding NSC. Turn-around time for this shall be within 15 working days from sample reception except for confirmatory test being send out overseas witich has a turn-around time of 4-6 working wees. 4, Incases wherein the results need to be further consulted or reviewed by experts and consultants from overseas, the NSC lab will be informed ASAP regarding possible delay ofrelease of results. 5. Any questions/comments/clarifications regarding the results/recommendations made by BG Lab should be forwarded to any BG staff and will be addressed accordingly. Prepared by: S Reviewed by; “Approved bj Chaco KATHLEEN GAYLD.FONACIER | MARY ANNE D. CHIANG, MD, FPPS | MARY ANNE D. fHIONG, MD, FPPS Medical Technologist IL Unit Hebd, Ditector UNCONTP OLED DOCUMENT, :