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Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS)
Clinical Genetic Test
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offered by
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's test page
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GTR Test Accession: Help GTR000509190.6
INHERITED DISEASEMETABOLIC DISEASEHEMATOLOGY ... View more
Last updated in GTR: 2020-01-31
View version history
Last annual review date for the lab: 2024-07-01 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (13): Help
Hemolytic anemia due to glucophosphate isomerase deficiency; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Gamma-glutamylcysteine synthetase deficiency more...
Genes (14): Help
AK1 (9q34.11); ALDOA (16p11.2); G6PD (Xq28); GCLC (6p12.1); GPI (19q13.11) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's website
View lab's test page
Test short name: Help
RBC Enzymopathies
Test Order Code: Help
http://www.cincinnatichildrens.org/service/d/diagnostic-labs/mol
Lab contact: Help
Lab Administration, Administrator
LabGeneticCounselors@cchmc.org
513-636-4474
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
Complete the appropriate test requisiton and have it signed by the referring physician.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
Test strategy: Help
Single-gene testing of any gene on the panel is available. These genes are also available as part of the Hemolytic Anemia panel.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Specimen source, Test development
Conditions Help
Total conditions: 13
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 14
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)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Please see test requisition for information about reflex deletion/duplication analysis by array comparative genomic hybridization (aCGH).
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The next generation sequencing panel detects 70-99% of the reported mutations in these genes using this testing methodology. Many genes on this panel result in rare or overlapping phenotypes, and the clinical sensitivity of gene sequencing has not been determined. The clinical sensitivity of single gene testing is dependent on … View more
Assay limitations: Help
Large exonic deletions, duplications, or insertions have been reported in several of these genes. Deletion/duplication analysis may be indicated as a follow-up test in patients with a single mutation in one of these genes, or in patients with normal Hemolytic Anemia Panel analysis.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
Test Confirmation, Citations to support 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: 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.