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Isolated Nonsyndromic Congenital Heart Defects via the ZFPM2 (FOG2) 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
8187 ZFPM2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8187ZFPM281479 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

  • Chun-An Chen, PhD

Clinical Features and Genetics

Clinical Features

Congenital heart defects (CHDs) are the most common birth defect occurring in 6-10 per 1000 live births and are a major cause of infant morbidity and mortality (Hoffman et al. J Am Coll Cardiol 39:1890-1900, 2002; Oyen et al. Circulation 120:295-301, 2009). Congenital heart diseases arise due to defects in cardiac morphogenesis during embryonic development, which leads to structural malformations in the heart and great vessels. Conotruncal heart defects (CTDs) are a class of outflow tract abnormalities that includes tetralogy of Fallot (TOF), double outlet right ventricle (DORV), truncus arteriosus (TA), interrupted aortic arch (IAA), and transposition of the great arteries (TGA). CTDs are common, occurring in over 10% of patients with CHDs (Oyen et al. 2009).

Genetics

CHDs have genetic and non-genetic causes. The majority of patients with CHDs are thought to have a complex, multifactorial etiology. CHDs can be caused by single gene or chromosomal abnormalities, exposure to teratogens, and other unknown mechanisms. Non-cardiac malformations are found in roughly 20% of patients with CHDs and chromosomal abnormalities account for ~ 7% of patients with CHDs (Eskedal et al. Cardiol Young 14:600-607, 2004; Oyen et al. Circulation 120:295-301, 2009). Monogenic non-syndromic CHD are caused by variants in regulators of heart development (reviewed by Bruneau Nature 451:943-948, 2008). Autosomal dominant nonsyndromic CHDs can occur due to variants in the zinc finger transcription factor ZFPM2 (FOG2). ZFPM2/FOG2 is expressed during early heart development and acts as a coregulator of GATA4 (Tevosian et al. Cell 101:729-739, 2000). The majority of documented causative variants in ZFPM2 (FOG2) are de novo missense variants (Tan et al. Clin Genet 2011). In addition to TOF and DORV, a de novo nonsense variant in ZFPM2 (FOG2) was identified in a patient with nonsyndromic congenital diaphragmatic hernia (Ackerman et al. PloS Genet 1:58-65, 2005).

Clinical Sensitivity - Sequencing with CNV PGxome

Variants in ZFPM2 (FOG2) have been reported in 13-15% of patients with DORV and less than 1% of patients with tetralogy of Fallot (De Luca et al. Clin Genet 80:184-190, 2011; Tan et al. Clin Genet 2011).

Testing Strategy

This test provides full coverage of all coding exons of the ZFPM2 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

Patients with DORV or nonsyndromic congenital diaphragmatic hernia are candidates for this test.

Gene

Official Gene Symbol OMIM ID
ZFPM2 603693
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Diaphragmatic Hernia 3 610187
Fallot Tetralogy AD 187500

Related Tests

Name
Comprehensive Cardiology Panel
Heterotaxy and Conotruncal Heart Defects via the GDF1 Gene
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene

Citations

  • Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ, Beier DR. (2005). PubMed ID: 16103912
  • Bruneau. (2008) The developmental genetics of congenital heart disease. Nature 451(7181):943-948. PubMed ID: 18288184
  • De Luca A, Sarkozy A, Ferese R, Consoli F, Lepri F, Dentici ML, Vergara P, De Zorzi A, Versacci P, Digilio MC, Marino B, Dallapiccola B. (2011). PubMed ID: 20807224
  • Eskedal L, Hagemo P, Eskild A, Aamodt G, Seiler KS, Thaulow E. (2004) A population-based study of extra-cardiac anomalies in children with congenital cardiac malformations. Cardiol Young 14(6):600-607. PubMed ID: 15679995
  • Hoffman JI, Kaplan S. (2002) The incidence of congenital heart disease. J Am Coll Cardiol 39(12):1890-900. PubMed ID: 12084585
  • Tan ZP, Huang C, Xu ZB, Yang JF, Yang YF. (2011). PubMed ID: 21919901
  • Tevosian SG, Deconinck AE, Tanaka M, Schinke M, Litovsky SH, Izumo S, Fujiwara Y, Orkin SH. (2000). PubMed ID: 10892744
  • Øyen N, Poulsen G, Boyd HA, Wohlfahrt J, Jensen PK, Melbye M. (2007) Recurrence of congenital heart defects in families. Circulation 120(4):295-301. PubMed ID: 19597048

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.
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