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HPD Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
HPD
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancie
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 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
  • 796.6: Abnormal findings on neonatal screening
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Ruetschi et al., (2000) Hum Genet 106:654-662.
  2. Tomoeda et al., (2000) Mol Genet Metab 71:506-510.
  3. Item et al., (2007) Mol Genet Metab 91:379-383.

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