Familial Amyloidotic Polyneuropathy (FAP): TTR gene analysis

Diagnostic Use

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.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Constituent Tests

• Genomic DNA Extraction

Synonyms

AMYL1
Amyloidosis type 1
prealbumin
transthyretin mutations

Turnaround Time

4 weeks

Test Code

4567

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

5.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Minimum Sample Volume (ml)

0.5

Additional Specimen Information

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

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.

Test Method

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

Non-Funded Test Cost

$652.33 (Exclusive of GST)

Billing Code

4567

Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms / microlitre.

Contact Information

Enquiry Form

Contact Information

Enquiry Form