Free the Data!
Please consider submitting BRCA1/2 testing results from your patients to www.sharingclinicalreports.org.
See: http://nyti.ms/14hUJsu for an explanation of the issue.
Thank you, Your GeneDx Team
Heterotaxy is a clinically and genetically heterogeneous disorder which may include organ isomerism, failure of internal organs to lateralize or failure of paired organ primordia to regress. Situs inversus is the mirror image of normal organ arrangement, while situs ambiguous is any abnormal arrangement of abdominal organs. Also included in the clinical spectrum of heterotaxy [...]+ Mutation-specific testing + Prenatal testing
Heterotaxy is a clinically and genetically heterogeneous disorder which may include organ isomerism, failure of internal organs to lateralize or failure of paired organ primordia to regress. Situs inversus is the mirror image of normal organ arrangement, while situs ambiguous is any abnormal arrangement of abdominal organs. Also included in the clinical spectrum of heterotaxy are cardiac defects including atrioventricular septal defect (AVSD), common atrial septal defects (ASD), malposition or transposition of the great arteries (TGA), Tetralogy of Fallot (TOF), dextrocardia, and patent ductus arteriosis (PDA). This class of cardiac defects accounts for 3% of all congenital heart disease. Severity of these conditions ranges from asymptomatic to life-threatening. Prevalence is estimated to be 1/10,000 live births with a 2:1 ratio of affected males to females based on a study with strict inclusion criteria for heterotaxy+ Mutation-specific testing + Prenatal testing
FORMS AND DOCUMENTS
- ACVR2B, CFC1, CRELD1, FOXH1, GDF1, GJA1, LEFTY2, NKX2-5, NODAL, ZIC3
- Clinical Utility:
- Confirmation of clinical diagnosis in patients with features of heterotaxy
- Recurrence risk calculation
- Prenatal diagnosis in families with a known mutation – full panel is NOT available for ongoing pregnancies
- Lab Method:
- Next-gen Sequencing
- Test Code:
- Turnaround Time:
- 8-9 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- Billing Information:
- View Cardiology Billing Policy
- ICD Codes:
- 745.6: Endocardial cushion defects
- 745.2: Tetralogy of Fallot Fallot's pentalogy Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
- 747.49: Other anomalies of great veins Absence of vena cava (inferior) (superior) Congenital stenosis of vena cava (inferior) (superior) Persistent: left posterior cardinal vein left superior vena cava Scimitar syndrome Transposition of pulmonary veins NOS
- 759.3: Situs inversus Situs inversus or transversus: abdominalis thoracis Transposition of viscera: abdominal thoracic Excludes: dextrocardia without mention of complete transposition (746.87)
- 746.9: Unspecified anomaly of heart, Congenital: anomaly of heart NOS, heart disease NOS
- V18.9: Genetic disease carrier
- Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM
- Sutherland and Ware, (2009) Am J Med Genet. Part C 151C:307 - 17.
- Bedard et al., (2011) PLOS one. 6(8):e23755
- Ware et al., (2004) Am J Hum Genet. Jan;74(1):93-105. Epub 2003 Dec 16.
- Kosaki R. et al., (1999) Am J Med Genet. 82:70-76.
- Kosaki K. et al., (1999) Am J Hum Genet. 64:712-721
- Bamford R. et al., (2000) Nat Genet. 26:365-369.
- Goldmuntz E. et al., (2002) Am J Hum Genet. 70:776-780.
- Selamet Tierney E. et al., (2007) Cardiol Young. 17:268-274.
- Mohapatra B. et al., (2009) Hum Mol Genet. 18(5):861-871.
- Roessler E., (2008) Am J Hum Genet. 83:18-29.
- Karkera J., (2007) Am J Hum Genet.81:987-994.
- Robinson S. et al., (2003) Am J Hum Genet. 72:1047-1052.
- Britz-Cunningham S., (1995) NEJM. 332(20): 1323-1329.
- Wang B., (2010) Int J Cardiol. 145(3): 487-189.
- Dasgupta C., (2001) Mutat Res. 479(1-2):173-186.
- Watanabe Y., (2002) J Med Genet. 39:807-811.
- Bennett S., (2004) Pharmacogenomics. 5(4):433-8.