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HelpTest Code NHHA Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies
Ordering Guidance
Multiple hematology gene panels are available. For more information see Hereditary Hemolytic Anemia Gene Panel and Subpanel Comparison.
Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Additional Testing Requirements
This test is best interpreted in the context of protein studies and peripheral blood findings. Prior to sending this test, Coombs testing should be negative, laboratory testing should indicate a hemolytic process and consider evaluating a peripheral blood smear. In addition, protein analysis for hereditary causes of hemolytic anemia can be provided by ordering HAEV1 / Hemolytic Anemia Evaluation Profile, Blood. Fill out the information sheet and indicate that a next-generation sequencing test was also ordered. Additionally, providing complete blood cell count data and clinical notes will allow a more precise interpretation of results.
Shipping Instructions
Necessary Information
1. Metabolic Hematology Next-Generation Sequencing (NGS) Patient Information is strongly recommended but not required. Testing may proceed without the patient information; however, it aids in providing a more thorough interpretation. Ordering healthcare professionals are strongly encouraged to complete the form and send it 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 any previous bone marrow studies, clinical or morphologic presentation.
Specimen Required
Specimen Type: Whole blood
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a bone marrow transplant, call 800-533-1710.
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 4 days
Additional Information: To ensure minimum volume and concentration of DNA are met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
Forms
1. 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.
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Metabolic Hematology Next-Generation Sequencing (NGS) Patient Information (T816)
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 hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies, and congenital dyserythropoietic anemia
Comprehensive testing for patients in whom previous targeted gene variant analyses were negative for a specific hereditary hemolytic anemia
Establishing a diagnosis of a hereditary hemolytic anemia or related disorder, allowing for appropriate management and surveillance of disease features based on the gene involved, especially if splenectomy is a consideration(2)
Identifying variants within genes associated with phenotypic severity, allowing for predictive testing and further genetic counseling
Special Instructions
- Informed Consent for Genetic Testing
- Metabolic Hematology Next-Generation Sequencing (NGS) Patient Information
- Informed Consent for Genetic Testing (Spanish)
- Hereditary Hemolytic Anemia Gene Panel and Subpanel Comparison
- Targeted Genes and Methodology Details for Hereditary Hemolytic Anemia Gene Panel
- Hereditary Hemolytic Anemia Evaluation Testing Algorithm
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Hereditary Hemolytic Anemia, NGSSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Varies | |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
28 to 42 daysPerforming 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. It 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 |
|---|---|---|
| NHHA | Hereditary Hemolytic Anemia, NGS | 107541-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 619034 | Test Description | 62364-5 |
| 619035 | Specimen | 31208-2 |
| 619036 | Source | 31208-2 |
| 619037 | Result Summary | 50397-9 |
| 619038 | Result | 82939-0 |
| 619039 | Interpretation | 59465-5 |
| 619040 | Additional Results | 82939-0 |
| 619041 | Resources | 99622-3 |
| 619042 | Additional Information | 48767-8 |
| 619043 | Method | 85069-3 |
| 619044 | Genes Analyzed | 82939-0 |
| 619045 | Disclaimer | 62364-5 |
| 619046 | Released By | 18771-6 |