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HelpTest ID 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
Genetics Test Information
See Targeted Genes Interrogated by NGHHA Next-Generation Sequencing in Special Instructions for a list of the genes and exons targeted by this test.
Special Instructions
Method Name
Hereditary Mutation Detection by 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
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)
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 |
|---|---|---|
| Varies | Varies | |
Reference Values
An interpretive report will be provided.
Day(s) and Time(s) Performed
Monday
Performing Laboratory
Mayo Clinic 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)
81364-HBB
81405-PKLR
81479-AK1, ALDOA, GPI, GSR, GSS, HBD, HK1, HMOX1, NT5C3A, PGK1, TPI1, GCLC and PFKM
81249-G6PD
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 |
Forms
1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.
2. Hemolytic Anemia Patient Information Form (T705) in Special Instructions.
3. Metabolic Hematology Next-Generation Sequencing (NGS) Information in Special Instructions.