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OTC Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
OTC
Disorders:
Clinical Utility:
  • 1. Confirmation of biochemical diagnosis
  • 2. Identification of females heterozygous for a mutation and males with partial enzyme deficiency
  • 3. Prenatal diagnosis in at risk pregnancies
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 277.8: Other specified disorders of metabolism
  • 270.6: Disorders of urea cycle metabolism, Argininosuccinic aciduria, Citrullinemia, Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia, Hyperammonemia, Hyperornithinemia
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Yamaguchi, S., et al, (2006) Hum Mutat 27(7):626-632
  2. Tuchman, M., et al, (2002) Hum Mutat 19 :93-107
  3. Bowlig et al., (1999) Am J Med Genet 85:452
  4. Tuchman, M., et al., (1998) Mol Genet Metab 21:40S- 58S
  5. Luksan et al., (2010) Hum Mutat 31:E1294-303
  6. Ogino et al., (2007) Kobe J Med Sci 53:229-240

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