Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

MYCN Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
MYCN
Disorders:
Clinical Utility:
  • 1. Confirmation of a clinical diagnosis
  • 2. To differentiate Feingold syndrome from VATER/VACTERL and other disorders with esophageal atresia
  • 3. Risk assessment
  • 4. Prenatal diagnosis in families with an affected child who has a known mutation
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
260
Turnaround Time:
6-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 759.7: Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 755.1: Syndactyly Symphalangy Webbing of digits
  • 750.3: Tracheoesophageal fistula, esophageal atresia and stenosis, Absent esophagus, Atresia of esophagus, Congenital: esophageal ring stenosis of esophagus, stricture of esophagus, Congenital fistula: esophagobronchial, esophagotracheal, Imperforate esophagus Webbed esophagus
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Celli, J. et al., (2003)Feingold syndrome: clinical review and genetic mapping Am J Med Genet. 122A: 294-300
  2. Van Bokhoven, H. et al. (2005) MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.Nat Genet. 37: 465-467
  3. Van Bokhoven, H. (2006) Personal communication
  4. Celli, J. et al. (2000) Familial syndromic esophageal atresia maps to 2p23-p24.Am J Hum Genet 66:436-444
  5. Marcelis C. et al., (2008) Genotype-Phenotype Correlations in MYCN-Related Feingold Syndrome. Hum Mut 29(9):1125-1132

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