Sanfilippo Syndrome A, B, C and D

Sanfilippo syndrome (Mucopolysaccharidosis III; MPS III) is an inherited lysosomal storage disorder caused by an inability to degrade heparan sulfate. There are 4 types of MPS III (MPS IIIA, MPS IIIB, MPS IIIC and MPS IIID) that are distinguished by the specific enzyme defect. Generally, all types of MPS have similar clinical manifestations although MPS IIIA has been reported to be more severe. Patients usually present in infancy or early childhood with developmental delay, delayed speech, difficulty in feeding, hyperactivity or sleep disturbances. Additional clinical symptoms include intellectual disability, progressive neurologic symptoms including aggressive behavior, poor coordination, seizures and hearing loss. Coarse facies, mild dysostosis multiplex, hepatosplenomegaly and joint contractures may also be present. There is considerable variation in onset and severity of the clinical phenotype even within a sibship. Death usually occurs by the third decade, often due to respiratory complications.

Tests Available

Forms and Documents

Test Details

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

Ordering

592
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. Valstar M. et al., (2010) Hum Mutat 31:E1348-1360.
  3. Coutinho M. et al. (2008) Clin Genet 74:194-195.
  4. Weber, B. et al. (1997) Hum Mol Gen 6:1573-1579.
  5. Mok A. et al., (2003) Genomics 81:1-5.
  6. Beesley, C. et al. (1998) J Med Genet 35:910-914.
  7. Weber, B. et al. (1999) Eur J of Hum Genet 7:34-44.
  8. Bunge, S. et al. (1999) J Med Genet 36:28-31.
  9. Valstar, M. et al., (2010) J Inher Met Dis 33 :759-767.
  10. Meyer, A. et al. (2008) Hum Mut 29 :770-775.
  11. Feldhammer, M. et al. (2009) Hum Mut 30:918-925.

Forms and Documents

Test Details

GNS, HGSNAT, NAGLU, SGSH
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Capillary Sequencing
  • Exon Array CGH

Ordering

610
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x4
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. Weber, B. et al. (1999) Eur J of Hum Genet 7:34-44.
  2. Bunge, S. et al. (1999) J Med Genet 36:28-31.
  3. Valstar, M. et al., (2010) J Inher Met Dis 33 :759-767.
  4. Hrebicek, M. et al. (2006) Am J of Hum Genet 79:807-819.
  5. Valstar M. et al., (2010) Hum Mutat 31:E1348-1360.
  6. Meyer, A. et al. (2008) Hum Mut 29 :770-775.
  7. Mok A. et al., (2003) Genomics 81:1-5.
  8. Weber, B. et al. (1997) Hum Mol Gen 6:1573-1579.
  9. Beesley, C. et al. (1998) J Med Genet 35:910-914.
  10. Coutinho M. et al. (2008) Clin Genet 74:194-195.
  11. Feldhammer, M. et al. (2009) Hum Mut 30:918-925.