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Test ID: NCDA Congenital Dyserythropoietic Anemia Gene Panel, Next-Generation Sequencing, Varies


Ordering Guidance


Multiple hematology gene panels are available. For more information, see NHHA and Subpanel Comparison Gene List.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.

 

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.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.


Necessary Information


1. Metabolic Hematology Next-Generation Sequencing (NGS) Patient Information is required. 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, 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. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

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


Forms

1. Metabolic Hematology Next-Generation Sequencing (NGS) Patient Information (T816) is required.

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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755)with the specimen.

Useful For

Confirming the diagnosis or carrier variant status of genes associated with congenital dyserythropoietic anemia

 

Identifying variants within genes associated with phenotypic severity, allowing for predictive testing and further genetic counseling

Method Name

Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

CDA Sequencing, NGS

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Next-generation sequencing is a methodology that can interrogate large regions of genomic DNA in a single assay. The presence and pattern of gene variants 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.(1-6) 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

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(7) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Orkin SH, Nathan DG, Ginsburg D, et al, eds. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Saunders Elsevier; 2009:360-364

2. Iolascon A, Andolfo I, Russo R. Congenital dyserythropoietic anemias. Blood. 2020;136(11):1274-1283. doi:10.1182/blood.2019000948

3. Kamiya T, Manabe A. Congenital dyserythropoietic anemia. Int J Hematol. 2010;92(3):432-348. doi:10.1007/s12185-010-0667-9

4. Iolascon A, Heimpel H, Wahlin A, Tamary H. Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. Blood. 2013;122(13):2162-2166

5. 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;87(5):721-727

6. Iolascon A, Andolfo I, Barcellini W, et al. Recommendations for splenectomy in hereditary hemolytic anemias. Haematologica. 2017;102(8):1304-1313. doi:10.3324/haematol.2016.161166

7. Richards S, Aziz N, Bale S, et al. ACMG Laboratory Quality Assurance Committee: 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;17(5):405-424

Day(s) Performed

Varies

Report Available

28 to 42 days

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

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NCDA CDA Sequencing, NGS 103734-0

 

Result ID Test Result Name Result LOINC Value
619076 Test Description 62364-5
619077 Specimen 31208-2
619078 Source 31208-2
619079 Result Summary 50397-9
619080 Result 82939-0
619081 Interpretation 69047-9
619082 Additional Results 82939-0
619083 Resources 99622-3
619084 Additional Information 48767-8
619085 Method 85069-3
619086 Genes Analyzed 82939-0
619087 Disclaimer 62364-5
619088 Released By 18771-6
Mayo Clinic Laboratories | Hematology Catalog Additional Information:

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