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GAA Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
GAA
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
287
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 786.9: Respiratory insufficiency
  • 271: Glycogen Storage Disease
  • 429.3: Cardiomegaly
* 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.

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