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HelpTest ID 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
Genetics Test Information
See Targeted Genes Interrogated by NGENZ Next-Generation Sequencing in Special Instructions for a list of the genes and exons targeted by this test.
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 | ||
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
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.