Red Blood Cell Antigen Genotyping - Clinical Genetic Test - GTR

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Red Blood Cell Antigen Genotyping

Clinical Genetic Test

offered by

ARUP Laboratories, Molecular Genetics and Genomics

View lab's test page

GTR Test Accession: GTR000566703.4

NYS CLEP

HEMATOLOGY

Last updated in GTR: 2023-07-31

Last annual review date for the lab: 2023-07-17

At a Glance

Test purpose:

Diagnosis; Monitoring; Prognostic; ...

Conditions (2):

Erythrocyte Alloimmunization; Hemolytic disease of fetus OR newborn due to isoimmunization

Genes (13):

ACKR1 (1q23.2), AQP1 (7p14.3), ART4 (12p12.3), BCAM (19q13.32), ERMAP (1p34.2), ...

Methods (1):

Molecular Genetics - Targeted variant analysis: PCR

Target population:

Not provided

Clinical validity:

Not provided

Clinical utility:

Not provided

Ordering Information

Offered by:

ARUP Laboratories, Molecular Genetics and Genomics
View lab's website
View lab's test page

Test short name:

RBC GENO

Manufacturer's name:

Immucor PreciseType™ HEA Molecular BeadChip

Specimen Source:

Amniocytes
Peripheral (whole) blood
View specimen requirements

Who can order:

Genetic Counselor
Health Care Provider
In-State Patients
Licensed Dentist
Licensed Physician
Nurse Practitioner
Physician Assistant
Public Health Mandate
Registered Nurse

Test Order Code:

3001053
View other test codes

Contact Policy:

Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.

How to Order:

Order URL

Informed consent required:

Based on applicable state law

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Lab contact for this test, Test strategy, Test development

Conditions

Total conditions: 2

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 13

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 1

Method Category

Test method

Instrument *

Targeted variant analysis

PCR

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis; Monitoring; Prognostic; Risk Assessment; Screening; Therapeutic management

Variant Interpretation:

What is the protocol for interpreting a variation as a VUS?
Multiple methodologies are utilized to classify a VUS. General knowledge regarding the gene and types of disease-associated mutations is reviewed. Population frequency is used to determine the incidence in which the variant is present in the general population as well as in specific ethnicities. Computational prediction programs are used to … View more

Are family members with defined clinical status recruited to assess significance of VUS without charge?
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes?
Yes. For significant changes to variant classification, an amended report is sent to the ordering facility and ARUP Laboratories will attempt to contact the provider. Clinicians are encouraged to continue to analyze the literature and re-contact the laboratory if a reclassification may be warranted.

Recommended fields not provided:

Clinical validity, Clinical utility, Target population, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report

Technical Information

Test Comments:

Immucor PreciseType™ HEA Molecular BeadChip which is FDA-approved for clinical testing. Predicted phenotypes are reported for each antigen and HbS based on the variants tested. Refer to Additional Technical Information for specific antigens tested: http://ltd-auth.aruplab.com/Tests/Pdf/57

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

>99% analytical sensitivity and specificity

Proficiency testing (PT):

Is proficiency testing performed for this test?
No

VUS:

Software used to interpret novel variations
The software utilized varies depending on the gene and variant type. Some examples of computational prediction programs ARUP Laboratories uses are SIFT, Polyphen2, Mutation Taster, NetGene and NNSplice. The evidence of pathogenicity generated by these computer prediction programs is considered weak.

Laboratory's policy on reporting novel variations
ARUP Laboratories complies with New York regulations for all variants reported. If a VUS is incidentally detected using a mutation panel or in an ACMG-recommended gene via exome sequencing, it will not be reported (in agreement with ACMG recommendations for standards for interpretation and reporting of sequence variations). Please see … View more

Recommended fields not provided:

Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Not provided

NYS CLEP Approval:

Number: 4196
Status: Approved

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.