Pathology Handbook

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Porphyria gene testing

Laboratory:

Clinical Biochemistry

Test Code:

PORPHGENE

Specimen Types:

Blood

Container Types:

EDTA 4 mL

Adults Volume or Mass:

4 mL

Minimum/Paediatric Volume or Mass:

0.5 mL

Transport Instructions between Sites and/or Laboratories:

Room Temperature

External Laboratory:

NSW Health Pathology, (SSWPS) - RPA

Billing Information:

This test requires approval by the Chemical Pathologist / Registrar.

This is a non-MBS rebatable test.

Additional Notes:

Detection of missense and other variants in genes associated with Acute Intermittent Porphyria (HMBS), Porphyria cutanae tarda (UROD), Hereditary coproporphyria (CPOX), Varigate porphyria (PPOX), Congenital erythropoietic porphyria (UROS) and Erythropoietic protoporphyria/X-linked protoporphyria (FECH/ALAS2).