Beta Thalassaemia: HBB Sequencing

Diagnostic Use

Beta thalassemia is a heterogenous group of diseases caused by a variety of mutations that interfere with beta globin gene expression. There are about 200 mutations have been identified in the beta globin gene. These mutations interfere with beta globin gene transcription, processing or translation.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Synonyms

Beta globin gene sequencing
Beta Thalassemia
HBB
Thalassaemia major
Thalassemia major

Turnaround Time

4 weeks

Test Code

4560

Specimen Type

• Whole Blood
• DNA extract

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

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 at ambient temperature).

An aliquot of DNA extracted by another accredited diagnostic laboratory is also an acceptable sample type. DNA extracts should be at least 20uL of DNA at a concentration no less than 20ng/uL. Please contact the laboratory to discuss specific requirements if the available DNA does not meet these standards.

Aliquot Instructions

Sample Type

• Whole Blood

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).

Reference Intervals

Test Method

PCR and automated DNA sequencing of the entire HBB gene.

Non-Funded Test Cost

$562.00 (Exclusive of GST)

Billing Code

4560

Uncertainty of Measurement:
Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%. This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Contact Information

Enquiry Form