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PTS Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PTS
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:
380
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 270.1: Phenylketonuria [PKU], Hyperphenylalaninemia
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Shintaku (2002) Curr Drug Metab 3:123-131
  2. Longo (2009) J Inher Metab Dis 32:333-342
  3. Scherer-Oppliger et al., (1999) Hum Mutat 13:286-289
  4. Blau et al., (2000) Hum Mutat 16:54-60
  5. Liu et al., (2001) Clin Chim Acta 313:157-169
  6. Thony et al., (1994) Am J Hum Genet 54:782-792
  7. Oppliger et al., (1995) J Biol Chem 270:29498-29506
  8. Kluge et al., (1996) Eur J Biochem 240:477-484
  9. Opppliger et al., (1997) Hum Mutat 10:25-35
  10. Romstad et al., (1999) Clin Chem 45:2102-2108
  11. Dudesek et al., (2001) Eur J Pediatr 160:267-276
  12. BIOMDB: Database of Mutations Causing Tetrahydrobiopterin Deficiencies (database online) (http://www.biopku.org/BioPKU_DatabasesBIOMDB.asp) curated by N. Blau, Beat Thöny
  13. Thony and Blau (2006) Hum Mutat 27:870-878
  14. Leuzzi et al., (2010) Clin Genet 77:249-257

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