TP53 Variant Analysis for Haematological Malignancies (Bone Marrow)

Testing Laboratory

Department

Diagnostic Genetics

Delphic Registration Code (Alpha Code)

LMH

Test Code (Numeric Code)

4723

Laboratory Handling

Sample Stability

Specimens should be shipped within 24 hours of collection and can be transported at room temperature in the range of >8 degrees Celsius to 24 degrees Celsius.

Associated Tests

• TP53 Variant Analysis for Haematological Malignancies (Blood)
• TP53 Variant Analysis for Haematological Malignancies (Tissue)

Synonyms

Molecular Haematology – TP53,
TP53

Turnaround Time

2 weeks

From receipt of specimen or request (whichever is later).

Specimen Type

• Bone Marrow

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

2

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

2

Additional Specimen Information

Please note that requests for TP53 Variant Analysis will only be accepted from specialist haematologists. Request from other doctors will not be accepted unless endorsed by a haematologist (full haematologist name must be provided with the referral).
Specimens should be clearly labelled with at least 2 points of identification.
Contact molecular haematology lab for all other sample types.
Specimens arriving with incomplete labelling/documentation or incorrect sample requirements will be rejected.
All specimens should be treated as urgent, registered for LMH and moved immediately to Molecular Haematology holding box upon receipt.

Test Method

DNA is analysed by targeted next generation sequencing of the TP53 gene. All coding exons and flanking canonical splice site regions are targeted by the assay. Library preparation, pooling, sequencing, and analysis occur on an Ion Torrent Genexus Integrated Sequencer 6.8.2.0.
The detection limit of this assay is a variant allele frequency (VAF) of 3%. Insertion and deletion variants in homopolymer regions at a VAF of <20% may not be reliably detected. Copy-number aberrations (CNA), structural variants and large insertions and deletions are not detected by this assay.

Contact Information