Alpha thalassaemia | Genomic Diagnostics

Test description

Alpha-thalassaemia is a recessive haematological disorder characterised by defects in the production of alpha globin chain of the haemoglobin molecule that decrease normal haemoglobin production with resulting microcytic hypochromic anaemia. The disease typically results from deletions involving the HBA1 and HBA2 genes, though other less frequent mutations can also cause the disorder.

Test information

Test name

Alpha Thalassemia

Clinical indication

To identify the underlying genetic cause in patients with haematological and laboratory evidence of thalassaemia, for diagnostic and reproductive planning purposes.

Gene(s)

HBA1 and HBA2 for detection of -alpha^3.7, -alpha^4.2, –SEA, –FIL, –THAI, -alpha^20.5 and –MED deletion variants

Method

Gap PCR, Sanger sequencing and MLPA

Turn around time

3 – 4 weeks

Medicare eligibility

73410 , 73411, 73412 – criteria apply to all

Price

If not MBS eligible, please contact 1800 822 999 for details

Test request form

Standard pathology request form

Sample type

Blood

Collection type

6mL EDTA tube

Special instructions

Prior haematological evidence of thalassaemia (e.g. FBC and film including HBH, iron studies, Hb EPG) must be available prior to testing