Sanfilippo Syndrome A

Tests Available

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Capillary Sequencing

Ordering

591
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 277.5 Mucopolysaccharidosis Gargoylism Hunter's syndrome Hurler's syndrome Lipochondrodystrophy Maroteaux-Lamy syndrome Morquio-Brailsford disease Osteochondrodystrophy Sanfilippo's syndrome Scheie's syndrome
* For price inquiries please email zebras@genedx.com

References

  1. Hrebicek, M. et al. (2006) Am J of Hum Genet 79:807-819.
  2. Beesley, C. et al. (1998) J Med Genet 35:910-914.
  3. Weber, B. et al. (1999) Eur J of Hum Genet 7:34-44.
  4. Bunge, S. et al. (1999) J Med Genet 36:28-31.
  5. Valstar, M. et al., (2010) J Inher Met Dis 33 :759-767.
  6. Weber, B. et al. (1997) Hum Mol Gen 6:1573-1579.
  7. Mok A. et al., (2003) Genomics 81:1-5.
  8. Meyer, A. et al. (2008) Hum Mut 29 :770-775.
  9. Feldhammer, M. et al. (2009) Hum Mut 30:918-925.
  10. Coutinho M. et al. (2008) Clin Genet 74:194-195.
  11. Valstar M. et al., (2010) Hum Mutat 31:E1348-1360.