NBS Lab Result Technical Specification - California

1 NBS Lab Result Technical Specification HL7 NBS Lab Result Technical Specification This page has been left blank. 1-2. NBS Lab Result Exchange Specification R EVISION H ISTORY. RELEASE DATE REVISED BY: PAGES DESCRIPTION. 1 04/17/2014 GDSP 22 Initial version 2 01/18/2017 GDSP 23 Updated document to include NTE. segment, local codes, Partial and Full Mailers added 3 03/29/2017 GDSP 52 Refined the Specification with more detail such as interaction model, HL7. message grammar, segment profiles, and code tables. 4 05/09/2018 GDSP Added new Quest SCID confirmatory LOINC codes, MPS-I, Pompe panels, indicated Ordering Provider (OBR-16) is currently populated with the Primary Care Provider and added LOINC. gestational age for Screen Card Data Panel 1-3. NBS Lab Result Technical Specification T ABLE OF C ONTENTS.

2 1 INTRODUCTION .. 1-7. INTERACTION OVERVIEW .. 1-7. 2 ABOUT HL7 MESSAGE STRUCTURES .. 2-8. MESSAGES .. 2-8. CHARACTER DATA .. 2-8. NUMERIC DATA .. 2-8. STRUCTURED NUMERIC 2-8. DATE/TIME DATA .. 2-9. OPTIONALITY .. 2-9. 2-10. ESCAPE SEQUENCES FOR HL7 RESERVED CHARACTERS .. 2-11. CONTINUATION PROTOCOL .. 2-11. 3 NBS results MESSAGE PROFILE .. 3-12. ORU^R01^ORU_R01 MESSAGE GRAMMAR .. 3-12. ORU^R01 SEGMENT 3-13. MESSAGE HEADER (MSH) .. 3-13. Sample MSH Data ..3-14. PATIENT IDENTIFICATION SEGMENT (PID).. 3-14. Sample PID NEXT OF KIN SEGMENT (NK1) .. 3-16. Sample NK1 Data ..3-17. COMMON ORDER SEGMENT (ORC) .. 3-17. Sample ORC Data ..3-18. OBSERVATION REQUEST SEGMENT (OBR) .. 3-18. Sample OBR Data ..3-20. OBSERVATION Result SEGMENT (OBX) .. 3-20. OBSERVATION Result (OBX-11) STATUS STATE TRANSITION.

3 3-21. Sample OBX Data ..3-22. NOTES AND COMMENTS SEGMENT (NTE) .. 3-22. Sample NTE 4 NBS ACKNOWLEDGEMENT MESSAGE PROFILE .. 4-23. ACK^R01^ACK MESSAGE GRAMMAR .. 4-23. ACK^R01 SEGMENT 4-23. MESSAGE HEADER SEGMENT (MSH) .. 4-23. MESSAGE ACKNOWLEDGEMENT SEGMENT (MSA) .. 4-24. ERROR SEGMENT (ERR).. 4-24. 5 REFERENCED DATA & TABLES .. 5-27. HL7 TABLES .. 5-27. HL7 Table 0001 Administrative Sex .. 5-27. HL7 Table 0003 Events 5-27. HL7 Table 0005 Race .. 5-27. 1-4. NBS Lab Result Exchange Specification HL7 Table 0008 Acknowledgement Code .. 5-27. HL7 Table 0063 Relationship Type .. 5-28. HL7 Table 0076 Message 5-28. HL7 Table 0085 - Observation Result Status 5-28. HL7 Table 0103 Processing ID .. 5-29. HL7 Table 0104 Version ID .. 5-29. HL7 Table 0119 Order Control Codes.

4 5-29. HL7 Table 0123 Result Status .. 5-29. HL7 Table 0125 Value 5-30. HL7 Table 0136 Yes / No Indicator .. 5-30. HL7 Table 0190 Address Type .. 5-31. HL7 Table 0200 Name Type .. 5-31. HL7 Table 0203 Identifier Type .. 5-31. HL7 Table 0301 Universal ID Type .. 5-34. HL7 Table 0354 Message Structure .. 5-34. HL7 Table 0357 Error Codes .. 5-34. HL7 Table 0396 Coding System .. 5-35. HL7 Table 0516 Error Severity 5-37. HL7 Table 0399 Country 5-37. USER DEFINED 5-38. User Defined Table 0189 Ethnicity 5-38. User Defined Table 0361 Applications .. 5-38. User Defined Table 0362 Facilities .. 5-38. TEST REQUEST & Result 5-38. NB Screen Panel Patient AHIC .. 5-38. Newborn Screening Report summary panel .. 5-39. Newborn Screen Card Data Panel .. 5-41. Local Observation Values.

5 5-41. LOINC Observation Values ..5-41. Newborn Screening Test results Panel in Dried Blood 5-42. Amino Acid Newborn Screen Panel .. 5-42. Acylcarnitine Newborn Screen Panel .. 5-42. Fatty acid Oxidation Newborn Screen Panel .. 5-43. Organic Acid Newborn Screen Panel .. 5-44. Cystic Fibrosis Newborn Screening Panel .. 5-44. LOINC Observation Values ..5-44. Local Congenital Adrenal Hyperplasia Newborn Screening Panel .. 5-45. LOINC Observation Values ..5-45. Thyroid Newborn Screening Panel .. 5-45. Galactosemia Newborn Screening Panel .. 5-46. Hemoglobinopathies Newborn Screening Panel .. 5-46. Biotinidase Newborn Screening Panel .. 5-46. SCID Panel .. 5-46. 1-5. NBS Lab Result Technical Specification Local Observation Result ALD Newborn Screening Panel .. 5-49. ALD Tier-1 Newborn Screening Panel.

6 5-49. LOINC Observation Value ..5-49. Local Observation ALD Tier-2 Newborn Screening Panel .. 5-49. LOINC Observation Value ..5-50. Local Observation ALD Mutation Newborn Screening Panel .. 5-50. LOINC Observation Value ..5-50. Mucopolysaccharidosis Type I Screening Panel .. 5-50. LOINC Observation Value ..5-50. Mucopolysaccharidosis Type I DNA Sequence .. 5-51. LOINC Observation Value ..5-51. Pompe Disease Newborn Screening 5-51. LOINC Observation Value ..5-51. Pompe Disease DNA Sequence .. 5-51. LOINC Observation Value ..5-51. 6 REFERENCED MATERIALS .. 6-53. TOOLS .. 6-53. NBS results Message Generator .. 6-53. Acknowledgement Message Validation .. 6-53. 6-53. 1-6. NBS Lab Result Exchange Specification 1 INTRODUCTION. This document is intended to be used by systems developers / analysts who wish to build system interfaces to exchange Newborn Screening results between Screening Information System (SIS) and hospital information systems/clinical management systems.

7 This Specification was created by the CDPH GDSP project in consultation with experts from hospital, community, and public health laboratories, and other interested stakeholders. The purpose of this document is to provide a detailed description of the structure and content of the Newborn Screening (NBS) results interface. The data exchange is specific to the State of California 's Genetic Disease Screening Program (GDSP) and covers both the HL7 results messages generated by GDSP as well as the acknowledgement messages generated by the health care provider. The NBS results messages follow the Newborn Screening Coding and Terminology Guidelines released by Public Health Informatics Institute (PHII) and National Library of Medicine (NLM), with the following specifications: Health Level 7 (HL7) : The version of HL7 used to transmit NBS results data.

8 Logical Observation Identifiers Names and Codes (LOINC): Standardized codes that are used to identify specific laboratory test requests, test results and disorders. American Health Information Community (AHIC) NBS Panel: Specifies the set of laboratory test requests, results or disorders to include in the HL7 NBS results message. INTERACTION OVERVIEW. The following diagram illustrates the high-level interactions between a Healthcare provider facility and the GDSP and outlines the end-to-end interactions among them. Healthcare Provider NBS. TRF & Specimens TRF Scanned and Entered into Holding Tables Nightly Batch Imports All NBS Orders From Temp Tables NBS Orders Resulted & Finalized Paper Mailers Are Mailed-out PDF Mailers Are Emailed Legend: Manual Processes & Interactions Completed Lab Result HL7 Messages (ORU^R01).

9 HL7 Messaging Interactions Acknowledgement to Result HL7 Messages (ACK^R01). 1-7. NBS Lab Result Technical Specification 2 About HL7 Message Structures The information in this section is provided for convenience only. The HL7 Standard should be considered the authoritative reference. For content specific topics refer to the following HL7 Chapters. Chapter 2 and 2A Control and Data Types Chapter 3 For Patient Related Topics Chapter 4 For Observation Requests Chapter 7 For Observation Reporting and results MESSAGES. A message is the atomic unit of data transferred between systems. Each message has a message type that defines its purpose. CHARACTER DATA. Character data includes any displayable characters in the supported character set. Upper and lower case characters may be used unless specifically noted in the Specification .

10 NUMERIC DATA. Numeric data may contain only the digits 0 through 9, plus a decimal point . and/or negative sign - . when appropriate. No other characters may be used. Decimal points are always explicitly used when needed. STRUCTURED NUMERIC DATA. Components: <comparator (ST)> ^ <num1 (NM)> ^ <separator/suffix (ST)> ^ <num2 (NM)>. The structured numeric data type is used to unambiguously express numeric clinical results along with qualifications. This enables receiving systems to store the components separately, and facilitates the use of numeric database queries. The corresponding sets of values indicated with the <comparator> and <separator/suffix> components are intended to be the authoritative and complete set of values. If <num1> and <num2> are both non-null, then the separator/suffix must be non-null.