Test Code NGENZ Red Blood Cell Enzyme Panel, Next-Generation Sequencing, Varies
Useful For
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an underlying RBC enzymopathy
Identifying mutations within genes associated with phenotypic severity, allowing for predictive testing and further genetic counseling
Special Instructions
Method Name
Next-Generation Sequencing (NGS)
Reporting Name
RBC Enzyme Sequencing, VSpecimen Type
VariesShipping Instructions
Peripheral blood specimens must arrive within 30 days of collection.
Necessary Information
1. Metabolic Hematology Next-Generation Sequencing (NGS) Patient Information is required, see Special Instructions. Testing may proceed without the patient information, however, the information aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to fill out the form and send with the specimen.
2. If form not provided, include the following information with the test request: clinical diagnosis, pertinent clinical history (ie, CBC results and relevant clinical notes) and differentials based on clinical or morphologic presentation.
Specimen Required
Submit only 1 of the following specimens:
Specimen Type: Peripheral blood (preferred)
Container/Tube:
Preferred: Lavender top (EDTA) or Yellow top or (ACD)
Acceptable: Green top (heparin)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
3. Label specimen as blood
Specimen Stability: Refrigerated ≤30 days
Specimen Type: Extracted DNA
Container/Tube: 1.5- to 2-mL tube
Specimen Volume: Entire specimen
Collection Instructions:
1. Indicate volume and concentration of the DNA.
2. Label specimen as extracted DNA and source of specimen.
Specimen Stability: Frozen/Refrigerated/Ambient ≤30 days
Specimen Minimum Volume
Blood, Bone Marrow: 1 mL
Extracted DNA: 100 mcL at 20 ng/mcL
concentration
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies |
Reject Due To
Gross hemolysis | Reject |
Gross lipemia | OK |
Other | Bone marrow biopsies Slides Paraffin shavings Frozen tissues Paraffin-embedded tissues Paraffin-embedded bone marrow aspirates |
Clinical Information
Next-generation sequencing (NGS) is a methodology that can interrogate large regions of genomic DNA in a single assay. The presence and pattern of gene mutations can provide critical diagnostic, prognostic, and therapeutic information for managing physicians.
This panel aids in the diagnosis and genetic counseling of individuals with inherited RBC enzymopathies, possible carrier states, or compound mutations with severity modulating interactions. This panel always should be interpreted in the context of protein functional findings by enzymatic assay and complete blood count and peripheral blood findings. This complete interpretation can be provided by also ordering the EEEVP / RBC Enzyme Evaluation. Please fill out the information sheet and indicate that NGS testing was ordered. Providing CBC data and clinical notes will also allow more precise interpretation of results.
Mature erythrocytes are dependent upon glycolysis for energy production and the hexose monophosphate shunt for oxidation-reduction stability. Hereditary deficiencies in RBC enzymes within these pathways cause nonspherocytic hemolytic anemia (NSHA) with variable clinical presentations, therapeutic considerations and inheritance patterns.(1-3) Most of these deficiencies cause chronic hemolysis with little to no pathognomonic morphologic changes in the peripheral blood smear making correlation with enzyme activity critical for diagnosis. Some are associated with acute episodic anemia triggered by medications, food, or viral illness. Variable additional symptoms may be present for some deficiency types, including myopathy, neuropathy, and developmental delay. Because a subset of clinically significant RBC enzyme disorders can have indeterminate to normal enzyme activity (masking in the presence of increased reticulocytes), the protein (enzymatic activity) studies are more sensitive when performed as a panel of RBC enzymes, which allows comparison of multiple enzyme activities. This genetic panel can aid in the interpretation of equivocal protein findings and genetically confirm an enzyme deficiency. Additionally, there are genes interrogated on this panel for which an enzyme test is not clinically available for correlation.
Reference Values
An interpretive report will be provided.
Day(s) and Time(s) Performed
Monday
Analytic Time
8 weeksPerforming Laboratory

Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
81443
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
NGENZ | RBC Enzyme Sequencing, V | In Process |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
NGENS | Specimen Type | 31208-2 |
NGEND | Indication for Test | 42349-1 |
40560 | Alterations Detected | 82939-0 |
40561 | Interpretation | 59465-5 |
40562 | Additional Notes | 48767-8 |
40563 | Method Summary | 49549-9 |
40564 | Disclaimer | 62364-5 |
40566 | Panel Gene List | 36908-2 |
40567 | Reviewed By | 18771-6 |
NY State Approved
YesForms
1. Metabolic Hematology Next-Generation Sequencing (NGS) Patient Information is required, see Special Instructions.
2. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
Testing Algorithm
See NGHHA and Subpanel Comparison Gene List in Special Instructions.