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Congenital Dyserythropoietic Anemia Type I via the CDIN1/C15orf41 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
11119 CDIN1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11119CDIN181479 81479,81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Luke Drury, PhD

Clinical Features and Genetics

Clinical Features

Congenital Dyserythropoietic Anemia (CDA) is a disorder that affects erythropoiesis leading to anemia. There are four types of CDA caused by mutations in different genes. Overlapping symptoms include jaundice and splenomegaly. Chronic anemia can cause secondary hemochromatosis and lead to tissue damage and organ failure in severe cases. Genetics is helpful in differential diagnosis of CDA types and from other broader syndromes where CDA also occurs including Majeed Syndrome, Mevalonate Kinase Deficiency, and exocrine pancreatic insufficiency (Iolascon et al. 2012; Tamary and Dgany 2009). Type I CDA is the second most prevalent form of disease and is characterized by moderate to severe anemia through mutations in either the CDAN1 or CDIN1/C15ORF41 genes. Patients with Type I CDA via CDIN1 gene mutations had severe anemia requiring blood transfusions during early childhood. Other clinical features included megaloblastic erythrocytosis with bi and multi-nuclear erythroblasts (Babbs et al. 2013; Iolascon et al. 2012).

Genetics

Type I CDA is primarily inherited in an autosomal recessive manner through mutations in the CDAN1 gene. Recently, Babbs et al. (2013) identified recessive causative mutations in a second gene, CDIN1. Two missense mutations have been reported with the c.533T>A (p.Leu178Gln) and the c.281A>G (p.Try94Cys) variants being reported in one Middle-Eastern family and two East Asian families respectively (Babbs et al. 2013). While the exact function of the CDIN1 protein is unknown, it is a member of the Holliday junction resolvase family and thought to be involved in DNA repair (Babbs et al. 2013).

Clinical Sensitivity - Sequencing with CNV PGxome

Analytical sensitivity for the CDIN1 gene should be high because all mutations reported to date are detectable by this method. Clinical sensitivity for CDIN1 is unknown due to the small number of patients reported to date.

Testing Strategy

This test provides full coverage of all coding exons of the CDIN1 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates have clinical features consistent with CDA including jaundice, anemia, splenomegaly, gallstones, and secondary hemochromatosis. Patients with Type I CDA have bone marrow morphology analysis indicating abnormal chromatin bridging by light microscopy and spongy heterochromatin with invagination of the cytoplasm into the nucleus by electron microscopy (Iolascon et al. 2012). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CDIN1.

Gene

Official Gene Symbol OMIM ID
CDIN1 615626
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Dyserythropoietic Anemia, Congenital, Type Ib AR 615631

Citations

  • Babbs C, Roberts NA, Sanchez-Pulido L, McGowan SJ, Ahmed MR, Brown JM, Sabry MA, WGS500 Consortium, Bentley DR, McVean GA, Donnelly P, Gileadi O, et al. 2013. Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haematologica 98: 1383–1387. PubMed ID: 23716552
  • Iolascon A, Esposito MR, Russo R. 2012. Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach. Haematologica 97: 1786–1794. PubMed ID: 23940284
  • Tamary H, Dgany O. 2009. Congenital Dyserythropoietic Anemia Type I. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301759

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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