OTC Gene Sequencing (Males)

Forms and Documents

Test Details

OTC
  • Confirmation of biochemical diagnosis
  • Identification of males with partial enzyme deficiency
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

313
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81405x1
No
Yes
  • 270.6 Disorders of urea cycle metabolism, Argininosuccinic aciduria, Citrullinemia, Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia, Hyperammonemia, Hyperornithinemia
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

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