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Test Code NGENZ Red Blood Cell Enzyme 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

Method Name

Hereditary Mutation Detection by Next-Generation Sequencing (NGS)

Reporting Name

RBC Enzyme Sequencing, V

Specimen Type


Shipping Instructions

Peripheral blood specimens must arrive within 30 days of collection.

Necessary Information

The following information is required on patient information or test request form:

1. Clinical diagnosis

2. Pertinent clinical history (submit CBC results and relevant clinical notes)

3. Differentials based on clinical or morphologic presentation

4. Date of collection

5. Specimen type, whole blood or extracted DNA

Specimen Required

Submit only 1 of the following specimens:


Specimen Type: Peripheral blood (preferred)


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
Varies Varies

Reject Due To


Mild OK; Gross reject


Mild OK; Gross OK




Bone marrow biopsies, slides, paraffin shavings, frozen tissues, paraffin-embedded tissues, paraffin-embedded bone marrow aspirates

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed


Performing Laboratory

Mayo Medical Laboratories in Rochester

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

81350-UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (eg, irinotecan metabolism), gene analysis, common variants (eg, *28, *36, *37)



81479-AK1, ALDOA, GPI, GSR, GSS, HBD, HK1, HMOX1, NT5C3A, PGK1 and TPI1


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 In Process
NGEND Indication for Test In Process
40560 Alterations Detected In Process
40561 Interpretation In Process
40562 Additional Notes 48767-8
40563 Method Summary 49549-9
40564 Disclaimer 62364-5
40566 Panel Gene List 36908-2
40567 Reviewed By In Process


Hemolytic Anemia Patient Information Form (T705)