Test Code NGENZ Red Blood Cell Enzyme Panel, Next-Generation Sequencing, Varies
Ordering Guidance
Multiple hematology gene panels are available. For more information, see NGHHA and Subpanel Comparison Gene List.
Additional Testing Requirements
This panel aids in the diagnosis and genetic counseling of individuals with inherited red blood cell enzymopathies, possible carrier states, or compound variants 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 EEEV1 / RBC Enzyme Evaluation. Please fill out the information sheet and indicate that a next-generation sequencing test was ordered. Providing complete blood cell count data and clinical notes will also allow more precise interpretation of results.
Shipping Instructions
Peripheral blood specimens must arrive within 30 days of collection.
Necessary Information
1. Metabolic Hematology Next-Generation Sequencing (NGS) Patient Information is required. 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, complete blood cell count 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 whole blood specimen in original tube. Do not aliquot
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
Forms
1. Metabolic Hematology Next-Generation Sequencing (NGS) Patient Information is required.
2. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file.
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.
Useful For
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an underlying red blood cell enzymopathy
Identifying variants 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
VariesSpecimen 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 |
Bone marrow biopsies Slides Paraffin shavings Frozen tissues Paraffin-embedded tissues Paraffin-embedded bone marrow aspirates |
Reject |
Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday
Report Available
56 to 70 daysPerforming 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 US 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 | 85069-3 |
40564 | Disclaimer | 62364-5 |
40566 | Panel Gene List | 36908-2 |
40567 | Reviewed By | 18771-6 |