skip navigation
A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeMUTA 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 genes are analysed will be guided by the clinical biochemistry results (e.g. fecal porphyrins, appropriate plasma fluorescent peaks) and the requesting physician.

The precise cost of porphyria gene testing depends on the number of exons in the genes that are analysed.

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 TestsGenomic DNA Extraction ;
External Price$1849.13(Exclusive of GST)
  

Specimen Collection

 
Pre-Testing Requirements

Biochemical investigations should be performed before genetic porphyria analysis is requested. 

Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
This e-mail address is being protected from spam bots, you need JavaScript enabled to view it
Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Additional Information
  1. This test requires nucleated cells. Please do not centrifuge or freeze the blood samples.
  2. 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.
  3. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Delphic Number Test Number7312

CHL Follow us on Facebook