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.

RET Remaining Exons Sequencing (HSCR)

FORMS AND DOCUMENTS

TEST DETAILS

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

ORDERING

Test Code:
2352
Turnaround Time:
5-6 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:
Yes
ABN Required:
Yes
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 zebras@genedx.com

REFERENCES

  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

Back To Top