Hawkinsinuria

Hawkinsinuria is a rare disorder of tyrosine metabolism that has been attributed to mutations in the HPD gene. Individuals with hawkinsinuria may be asymptomatic or exhibit failure to thrive, episodes of tyrosinemia and metabolic acidosis that respond to protein restriction. Symptoms improve within the first year of life. Patients with Hawkinsinuria may be detected by newborn screening

Tests Available

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancie

Ordering

495
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81479x1
Yes
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.2 Other disturbances of aromatic amino-acid metabolism, Albinism, Alkaptonuria, Alkaptonuric ochronosis, Disturbances of metabolism of tyrosine and tryptophan, Homogentisic acid defects, Hydroxykynureninuria Hypertyrosinemia, Indicanuria, Kynureninase defects, Oasthouse urine disease, Ochronosis, Tyrosinosis, Tyrosinuria, Waardenburg syndrome
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*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. Item et al., (2007) Mol Genet Metab 91:379-383.
  2. Tomoeda et al., (2000) Mol Genet Metab 71:506-510.
  3. Ruetschi et al., (2000) Hum Genet 106:654-662.