Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

MYCN Del/Dup

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:
MLPA

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 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
  • 759.7: Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 755.1: Syndactyly Symphalangy Webbing of digits
* 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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