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HelpTest ID: NGCDA Congenital Dyserythropoietic Anemia Panel, Next-Generation Sequencing, Varies
Useful For
Confirmation of the diagnosis or carrier mutation status of genes associated with congenital dyserythropoietic anemia
Identifying mutations within genes associated with phenotypic severity, allowing for predictive testing and further genetic counseling
Special Instructions
Method Name
Hereditary Mutation Detection by Next-Generation Sequencing (NGS)
Reporting Name
CDA 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 (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
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: 1 mL; Extracted DNA: 100 mcL at 20 ng/mcL concentration
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Next-generation sequencing (NGS) is a methodology that can interrogate large regions of genomic DNA in a single assay. The presence and pattern of gene mutations can provide critical diagnostic, prognostic, and therapeutic information for managing physicians.
This panel aids in the diagnosis and genetic counseling of individuals with clinical or familial features of congenital dyserythropoietic anemia (CDA). CDA is a disorder of ineffective erythropoiesis clinically subdivided into subtypes with various phenotypic findings that segregate into different gene associations.(1-4) These disorders have distinctive cytopathologic findings consisting of nuclear abnormalities in bone marrow erythroid precursors. Types I and II CDA are inherited in an autosomal recessive pattern whereas types III and IV are autosomal dominant.
Reference Values
An interpretive report will be provided.
Interpretation
Evaluation and categorization of variants is performed using the most recent published American College of Medical Genetics recommendations as a guideline.(5,6) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Multiple in silico evaluation tools may be used to assist in the interpretation of these results. The accuracy of predictions made by in silico evaluation tools is highly dependent upon the data available for a given gene, and predictions made by these tools may change over time. Results from in silico evaluation tools should be interpreted with caution and professional clinical judgment.
Clinical Reference
1. Nathan and Oski’s Hematology of Infancy and Childhood. Edited by SH Orkin, DG Nathan, D Ginsburg, et al. Seventh edition. Philadelphia, Saunders Elsevier, 2009, pp 360-364
2. Iolascon A, Heimpel H, Wahlin A, Tamary H: Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. Blood 2013 Sep 26;122(13):2162-2166
3. Arnaud L, Saison C, Helias V, et al. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet 2010 Nov 12;87(5):721-727
4. Iolascon A, Andolfo I, Barcellini W, et al: Recommendations for splenectomy in hereditary hemolytic anemias. Haematologica 2017 May 26. PMID: 28550188. doi: 10.3324/haematol.2016.161166
5. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424
Day(s) and Time(s) Performed
Monday
Analytic Time
8 weeksTest 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
81364
81479
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| NGCDA | CDA Sequencing, V | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| NGCDS | Specimen Type | 31208-2 |
| NGCDD | Indication for Test | 42349-1 |
| 40576 | Alterations Detected | 82939-0 |
| 40577 | Interpretation | 59465-5 |
| 40578 | Additional Notes | 48767-8 |
| 40579 | Method Summary | 49549-9 |
| 40580 | Disclaimer | 62364-5 |
| 40582 | Panel Gene List | 36908-2 |
| 40583 | Reviewed By | 18771-6 |
Forms
Metabolic Hematology Next-Generation Sequencing (NGS) Patient Information is required, see Special Instructions
Testing Algorithm
See NGHHA and Subpanel Comparison Gene List in Special Instructions.
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