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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:
Exon Array CGH

ORDERING

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

BILLING

CPT Codes:
84311x1, 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
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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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