Hyperphenylalaninemia

Forms and Documents

Test Details

DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SPR
  • Molecular confirmation of a suspected biochemical diagnosis.
  • Testing of patients suspected of having a disorder of hyperphenylalaninemia or biopterin metabolism.
  • Allows for identification of at-risk family members.

Ordering

J995
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81405x2; 81406x1; 81479x1
No
Yes
For price inquiries please email zebras@genedx.com

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Regier DS, Greene CL. Phenylalanine Hydroxylase Deficiency. 2000 Jan 10 [Updated 2017 Jan 5]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  2. Longo, et al. (2009) Journal Of Inherited Metabolic Disease 32 (3):333-42 (PMID: 19234759)
  3. Ye et al. (2013) Journal Of Inherited Metabolic Disease 36 (5):893-901 (PMID: 23138986)
  4. Anikster et al. (2017) Am. J. Hum. Genet. 100 (2):257-266 (PMID: 28132689)
  5. Stenson et al. (2014) Human Genetics 133 (1):1-9 (PMID: 24077912)
  6. Leuzzi et al. (2010) Clinical Genetics 77 (3):249-57 (PMID: 20059486)
  7. Friedman et al. (2012) Ann. Neurol. 71 (4):520-30 (PMID: 22522443)
  8. Romstad et al. (2000) Hum. Genet. 107 (6):546-53 (PMID: 11153907)