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Test 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

Method Name

Hereditary Mutation Detection by Next-Generation Sequencing (NGS)

Reporting Name

CDA Sequencing, V

Specimen Type

Varies


Shipping 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 weeks

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

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

Testing Algorithm

See NGHHA and Subpanel Comparison Gene List in Special Instructions.

Mayo Clinic Laboratories | Hematology Catalog Additional Information:

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