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

Test Identifier Information

 
Registration CodeMOLP
Method

All four coding exons of the TTR gene are analysed using an AmpliSeq-for-Illumina NGS custom panel on an Illumina MiSeq instrument.

Diagnostic Use / Indications

Defects in the TTR gene, encoding the plasma protein transthyretin (also called prealbumin) are the cause of amyloidosis type 1 (AMYL1) [MIM:176300]. AMYL1 is a hereditary generalised amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome and systemic senile amyloidosis.

Constituent TestsGenomic DNA Extraction ;
External Price$600.00(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen5.0 mL EDTA(Lavender) blood
Paediatric Specimen0.5 mL EDTA(Lavender) blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number(03) 364 0548 | x 80548
Test Availability9am-5pm Monday to Friday
Turnaround Time6 weeks
Interpretation

Since all mutations described to date are found in the coding exons of the TTR gene, testing will identify 100% of all known mutations.

Additional Information
  1. This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
  2. 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 Number4567

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