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.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J995
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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

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)