GDSP Newborn Screening Health Information Exchange Tools

This tool allows the user to generate sample HL7 NBS result messages. Based on the selection of test results, different types of HL7 messages are generated.

Provider Information Hospital Name: Hospital Code: Hospital Order #: Hospital/Clinician NPI#:	Modified Test Results CF   BD   GAL   TSH   CAH   HB   Acylcarnitine   Amino Acid   SCID   ALD   Pompe   MPS I   SMA   MPS II   GAMT
Patient Information * Last Name: First Name: * Date of Birth: Gender: Male Female Medical Record #: Form #:	HL7 Result Message
Mother Information * Last Name: * First Name: * Date of Birth:
Test Results Blood Transfused: Receive Partial Result as Full: Cystic Fibrosis (CF): Negative Positive Positive with referred Incomplete Biotinidase Deficiency (BD): Negative Positive Galactosemia (GAL): Negative Positive Transfused Hypothyroidism (TSH): Negative Positive Congenital Adrenal Hyperplasia (CAH): Negative Positive NBS Result – Initial (2nd tier CAH Negative) NBS Result – Initial (2nd Tier CAH Positive) Hemoglobinopathies (HB): Negative Positive Follow-up Optional HB Referral Trait Referral HB=A Only Disease Questionable HB Uninterpretable HB Variant MS/MS Acylcarnitine: Negative Positive Transfused MS/MS Amino Acid: Negative Positive TPN Transfused Severe Combined Immunodeficiency (SCID): Negative Positive Incomplete Adrenoleukodystrophy (ALD): Not Applicable ALD Tier 1 Negative ALD Tier 2 Negative ALD Positive With Mutation ALD Positive Without Mutation Pompe: Not Applicable Negative Low GAA Enzyme Activity Incomplete Pompe Screen Positive Pompe Screen Negative - DNA Sequencing Performed with no Mutation Pompe Screen Negative - DNA Sequencing Performed Pseudo Deficiency MPS I: Not Applicable Negative Incomplete MPS I Screen Positive MPS I Screen Negative - DNA Sequencing Performed with no Mutation MPS I Screen Negative - DNA Sequencing Performed Pseudo Deficiency SMA: Not Applicable Negative Incomplete Positive Additional Result: Select NBS Result – Initial (Inadequate Specimen) NBS Result – Initial (Too Early or Missing Information) NBS Result – Repeat (SCID Test) NBS Result – CFTR DNA Sequencing NBS Result – CFTR DNA Sequencing NBS Result – CFTR DNA Sequencing NBS Result – SCID Confirmatory NBS Result - ALD Sequencing with mutation NBS Result - ALD Sequencing without mutation NBS Result – Pompe Sequencing NBS Result – MPS I Sequencing - Conclusive Variant NBS Result – MPS I Sequencing - Pseudo Deficiency MPS II: Not Applicable Negative Incomplete MPS II Screen Positive MPS II Screen Negative - DNA Sequencing Performed with no Mutation MPS II Screen Negative - DNA Sequencing Performed Pseudo Deficiency GAMT: Not Applicable Tier 1 : Negative Tier 2 : Negative Positive Attach PDF to Electronic Result:
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