GAA Gene Sequencing

Forms and Documents

Test Details

GAA
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array

Ordering

287
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81406x1
No
Yes
  • 429.3 Cardiomegaly
  • 271 Disorders of carbohydrate transport and metabolism Excludes: abnormality of secretion of glucagon (251.4) diabetes mellitus (249.0-249.9, 250.0-250.9) hypoglycemia NOS (251.2) mucopolysaccharidosis (277.5)
  • 786.9 Respiratory insufficiency
* For price inquiries please email zebras@genedx.com

References

  1. Kroos et al., (1995) J Med Genet 32:836-837.
  2. Raben et al, (2002) Curr Molec Med 2:145-166.
  3. Kroos et al, (2007) Neurology 68:110-115.
  4. Hermans et al, (2004) Hum Mut 23:47-56.
  5. Montalvo et al., (2006) Hum Mut 27:999-1006.
  6. McCready et al., (2007) Mol Genet Metab 92:325-335.
  7. Oba-Shinjo et al., (2009) J Neurol 256:1881-1890.
  8. Pittis et al., (2008) Hum Mutat 29:E27-36.
  9. Joshi et al., (2008) J Inherit Metab Dis #113 Online
  10. Van der Kraan et al., (1994) Biochem Biophys Res Commun 203:1535-41.