Red Blood Cell Enzyme Panel, Next-Generation Sequencing
GTR Test Accession: Help GTR000593180.1
INHERITED DISEASEMETABOLIC DISEASEHEMATOLOGY ... View more
Last updated in GTR: 2021-05-25
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Diagnosis
Hemolytic anemia; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Crigler-Najjar syndrome; ...
AK1 (9q34.11), ALDOA (16p11.2), G6PD (Xq28), GCLC (6p12.1), GPI (19q13.11), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Individuals of clinical features of an RBC enzymopathy.
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
NGENZ
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Sarah Brunker, PhD, MS, MPH, Genetic Counselor
rstgchemepath@mayo.edu
1-800-533-1710
Contact Policy: Help
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: Help
https://www.mayocliniclabs.com/test-catalog/Specimen/64937
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: FMTT
    OrderCode: FMTT
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 19
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 17
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq 2500
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis. Koralkova P, et al. Int J Lab Hematol. 2014;36(3):388-97. doi:10.1111/ijlh.12223. PMID: 24750686.

Target population: Help
Individuals of clinical features of an RBC enzymopathy.
View citations (1)
  • Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis. Koralkova P, et al. Int J Lab Hematol. 2014;36(3):388-97. doi:10.1111/ijlh.12223. PMID: 24750686.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
All detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. Contact lab for details.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Research:
Is research allowed on the sample after clinical testing is complete? Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Technical Information
Test Procedure: Help
This next-generation sequencing (NGS) assay is performed to test for the presence of a pathogenic mutation in targeted regions of the following 17 genes: AK1, ALDOA, G6PD, GCLC, GPI, GSR, GSS, HBB, HBD, HK1, HMOX1, NT5C3A, PFKM, PGK1, PKLR, TPI1, and UGT1A1. See Targeted Genes Interrogated by NGENZ Next-Generation Sequencing … View more
Test Confirmation: Help
Positive results are confirmed when appropriate.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity, and accuracy are ≥ 99%.
Assay limitations: Help
Clinical: Some individuals may have a mutation that is not identified by the methods performed. The absence of a mutation, therefore, does not eliminate the possibility of hereditary hemolytic anemia or a related disorder. This assay does not distinguish between germline and somatic alterations, particularly with variant allele frequencies (VAF) … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
VUS:
Software used to interpret novel variations Help
Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, gene-specific online databases, ISCA, UCSC Genome Browser

Laboratory's policy on reporting novel variations Help
All novel variants and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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.