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This example shows findings from an assessment of the unique pattern of genomic variations in human leukocyte antigens (HLA) for the purpose of characterizing the alleles, in order to...

understand the immune system (such as... ) to support tissue matching and to characterize/understand/ immune disease.

mechanism of action of drug and 

  • tissue matching
  • immune system assessments

for the the immune system autoimmune 

The identification of specific HLA alloantigens is used to select cell, tissue and organ donors [5], [6], [7]; to diagnose autoimmune diseases [8]; to determine the risk of adverse drug reactions [9]; and to guide immunotherapies [10].

This example shows findings from an assessment of genomic variations in drug metabolizing genes with the purpose of determining how variations in those genes affect drug absorption, distribution, metabolism, and excretion (ADME). The method used to summarize nucleotide variation is represented in variable GFANMETH where appropriate. Identifying information for the genomic panel is represented in SPDEVID. Additional information about the genomic panel may be represented in the Medical Device Domains (e.g., DI domain) as needed.

a pattern of genomic variations in human leukocyte antigens (HLA) with the purpose of determining genotyping of 


An assessment of the unique pattern of sequence variation of one to many loci associated with a normal or abnormal biological process.A  characterization or classification of the allele.


Show the predicted phenotype based on the unique pattern of nucleotide variation of gene CYP2C19 that is involved in ADME.

This example shows findings from an assessment of genomic variations in drug metabolizing genes with the purpose of determining how variations in those genes affect drug absorption, distribution, metabolism, and excretion (ADME). The method used to summarize nucleotide variation is represented in variable GFANMETH where appropriate. Identifying information for the genomic panel is represented in SPDEVID. Additional information about the genomic panel may be represented in the Medical Device Domains (e.g., DI domain) as needed.

Genotyping of the human leucocyte antigen (HLA) is indispensable for transplantation of hematopoietic stem cells or organs [1–3] and for the management of other diseases involving immune reactions [4].

how variations in those genes affect drug absorption, distribution, metabolism, and excretion (ADME).

The method used to summarize nucleotide variation is represented in variable GFANMETH where appropriate. Identifying information for the genomic panel is represented in SPDEVID. Additional information about the genomic panel may be represented in the Medical Device Domains (e.g., DI domain) as needed.

This example shows findings from an assessment of the unique pattern of sequence variation of one to many loci associated

<> with the purpose of determining <>.

An assessment of the unique pattern of sequence variation of one to many loci associated with a normal or abnormal biological process.

Human leukocyte antigen (HLA) typing

This example shows findings from an assessment of genomic variations in genes associated with HLA typing with the purpose of determining the allele subtypes.


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STUDYIDDOMAINUSUBJIDSPDEVIDNHOIDGFSEQGFGRPIDGFREFIDGFSPIDGFLNKIDGFLNKGRPGFTESTCDGFTESTGFTSTDTLGFORRESGFSYMGFSYMTYPGFCOPYIDGFSTATGFREASNDGFXFNGFNAMGFSPECGFMETHODGFRUNIDGFANMETHGFBLFLGFDRVFLGFLLOQGFREPNUMVISITNUMVISITVISITDYGFDTCGFDYGFTPTGFTPTNUMGFELTMGFTPTREFGFRFTDTC
Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPEA*02:TSXZHLA-AGENE WITH PROTEIN PRODUCT1


ACME GenomicsDNASANGER SEQUENCING





-1SCREENING-19/16/2023-2




Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPEA*03:ABSAXHLA-AGENE WITH PROTEIN PRODUCT2


ACME GenomicsDNASANGER SEQUENCING















Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPEB*18:TXYFHLA-BGENE WITH PROTEIN PRODUCT1


ACME GenomicsDNASANGER SEQUENCING















Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPEB*38:01HLA-BGENE WITH PROTEIN PRODUCT2


ACME GenomicsDNASANGER SEQUENCING















Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPEC*07:AAEPNHLA-CGENE WITH PROTEIN PRODUCT1


ACME GenomicsDNASANGER SEQUENCING















Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPEC*12:AAGWEHLA-CGENE WITH PROTEIN PRODUCT2


ACME GenomicsDNASANGER SEQUENCING















Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPEDRB1*07:ACEUAHLA-DRB1GENE WITH PROTEIN PRODUCT1


ACME GenomicsDNASANGER SEQUENCING















Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPEDRB1*14:ABZZVHLA-DRB1GENE WITH PROTEIN PRODUCT2


ACME GenomicsDNASANGER SEQUENCING















Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPEDRB3*01:XXHLA-DRB3GENE WITH PROTEIN PRODUCT1


ACME GenomicsDNASANGER SEQUENCING















Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPEDRB3*HLA-DRB3GENE WITH PROTEIN PRODUCT2NOT DONEDRB3*
ACME GenomicsDNASANGER SEQUENCING















Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPEDRB4*01:FVUUHLA-DRB4GENE WITH PROTEIN PRODUCT1


ACME GenomicsDNASANGER SEQUENCING















Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPE
HLA-DRB4GENE WITH PROTEIN PRODUCT2NOT DONEDRB4*
ACME GenomicsDNASANGER SEQUENCING















Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPE
HLA-DRB5GENE WITH PROTEIN PRODUCT1NOT DONEDRB5*
ACME GenomicsDNASANGER SEQUENCING















Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPE
HLA-DRB5GENE WITH PROTEIN PRODUCT2NOT DONEDRB5*
ACME GenomicsDNASANGER SEQUENCING















Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPEDQB1*02:ACBXNHLA-DQB1GENE WITH PROTEIN PRODUCT1


ACME GenomicsDNASANGER SEQUENCING















Study-123GFS123-001

1
HGA4567


VARPROFVariant ProfileALLELE TYPEDQB1*05:ACEDBHLA-DQB1GENE WITH PROTEIN PRODUCT2


ACME GenomicsDNASANGER SEQUENCING















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