RET Remaining Exons Sequencing (HSCR)

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing


3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Brushes


  • 751.3 Hirschsprung's disease and other congenital functional disorders of colon, Aganglionosis, Congenital dilation of colon, Congenital megacolon, Marcrocolon
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  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