Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at

RET Remaining Exons Sequencing (HSCR)



Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
Lab Method:
Capillary Sequencing


Test Code:
Turnaround Time:
5-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube


CPT Codes:
81404x1, 81405x1
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • 751.3: Hirschsprung's disease and other congenital functional disorders of colon, Aganglionosis, Congenital dilation of colon, Congenital megacolon, Marcrocolon
* For price inquiries please email


  1. Passarge E, Dissecting Hirschsprung disease. Nat Genet. 31: 11-12, 2002
  2. Bolk Gabriel S et al., Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet. 31: 89-93, 2002
  3. Yin L et al., Close linkage with the RET proto-oncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. Hum Mol Genet 2:1803-1808, 1993
  4. Fewtrell MS et al., Hirschsprung’s disease associated with a deletion of chromosome 10(q11.2-q21.2) – a further link with the neurocristopathies. J Med Genet 31:325-327, 1994
  5. Borrego S et al., Specific polymorphisms in the RET proto-oncogene are over-expressed in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet. 36:771-74, 1999

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