Porphyria testing: PPOX, CPOX, UROD, HMBS, FECH

Test Identifier Information
Registration Code	MUTA 23
Method	Coding regions of the 5 most common genes implicated in the hereditary porphyrias are analysed by DNA sequencing: PPOX, CPOX, UROD, HMBS, FECH. The decision as to which gene(s) is analysed will be guided by the clinical biochemistry results (e.g. fecal porphyrins, appropriate plasma fluorescent peaks) and the requesting physician. The cost of porphyria gene testing depends on the number of exons in the gene that is analysed. Approximate prices are as follows: PPOX-$800, CPOX-$550, UROD-$700, HMBS-$900, FECH-$750.
Diagnostic Use / Indications	The porphyrias are a group of low penetrance, autosomal dominant disorders which generally present with excessive accumulation and excretion of protoporphyrin. The symptoms are variable but include: severe abdominal pain, chest, legs or back pain, constipation or diarrhea, nausea and vomiting, muscle pain, tingling, numbness, weakness or paralysis, red or brown urine, mental changes, such as anxiety, confusion, hallucinations, disorientation or paranoia, breathing problems, urination problems, heart palpitations, hypertension, seizures. Approximately 75% of affected individuals remain asymptomatic but are at risk if exposed to certain drugs, alcohol or other factors.
Constituent Tests	Genomic DNA Extraction ;
External Price	$1768.34(Exclusive of GST)

Specimen Collection
Pre-Testing Requirements	Biochemical investigations should be performed before genetic porphyria analysis is requested.
Patient Specimen	4.0mL EDTA,
Paediatric Specimen	0.5 mL - 1 mL EDTA blood
Sample Delivery to Lab	Ambient

CHLabs Laboratory
Department	Biochemistry - Molecular Pathology
Contact Details	Email This e-mail address is being protected from spam bots, you need JavaScript enabled to view it
Contact Phone Number	03 3640 548
Test Availability	9am to 5pm, Monday to Friday
Turnaround Time	Within 4 weeks
Additional Information	This test requires nucleated cells. Please do not centrifuge or freeze the blood samples. Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).
Delphic Number Test Number	7312