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Test Identifier Information

 
Registration CodeMOLP
Method

Haemolysate is denatured and digested with trypsin and analysed directly by electrospray TOF-Mass spectrometry.

Cost: $200

Diagnostic Use / Indications

Haemoglobin (Hb) analysis routinely performed in clinical haematology laboratories using electrophoretic and chromatographic procedures will often detect variant haemoglobin chains of unknown significance. In addition high oxygen affinity haemoglobin variants are a known cause of Polycythaemia and their exclusion forms part of the standard diagnostic work up in cases of unexplained polycythaemia. Liquid chromatography coupled with electrospray ionization mass spectrometry (ESI-MS) is the method of choice for identifying haemoglobin variants in these patients. In most cases, observed mass differences may be localized to a particular tryptic peptide, which facilitates DNA sequencing of the candidate exon. This approach is more direct than sequencing all exons of the alpha or beta genes.

Constituent TestsGenomic DNA Extraction ;
External Price$0.00(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen5 mL EDTA (Lavender) Blood
Paediatric Specimen0.5 mL 1.0 mL EDTA(Lavender) blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number81594
Test Availability9am to 5pm, Monday to Friday
Turnaround Time2-3 weeks
Additional Information
  1. This test requires nucleated cells. Please do not centrifuge or freeze 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).


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