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20 IMR ANNUAL REPORT 2021
Molecular Genetic Haematology Laboratory Tests in 2021
2021
Type of Test Test Performed
Tests
Multiplex ARMS PCR 3054
Multiplex GAP PCR
2984
CANCER RESEARCH CENTRE (CaRC) Molecular tests for Beta MLPA 2448
164
Globin Gene/ Cluster
Sequencing
367
Other Variants
Multiplex GAP PCR 6589
Molecular tests for Alpha Multiplex ARMS PCR 7791
Globin Gene/ Cluster MLPA 498
Sequencing 1092
Haemophilia B genotyping
Haemophilia is a group of inherited blood disorders in which there is a
life-long defect in the clotting mechanism. It is inherited as an x-linked
recessive; therefore, males are affected and females are carriers. The most
common types of haemophilia are Haemophilia A (factor VIII deficiency)
and Haemophilia B (factor FIX deficiency). Our laboratory offers Factor
9 gene sequencing for index case confirmation and targeted gene
sequencing (known mutation) for carrier screening. This test is useful for
molecular confirmation of a clinical diagnosis of Haemophilia B in affected
male patients and also helps to determine Haemophilia B carrier status
for female patients with a positive family history. Identification of the
causative alteration in the F9 gene is useful for confirmation of diagnosis,
prognostication on clinical severity and risk of inhibitor development and
also genetic counselling purposes.
Haemophilia B genotyping tests in 2021
2021
Type of Test Test Performed
No of sample No of Test
Haemophilia B -full sequencing
for the index case 6 306
Haemophilia B ge-
notyping Haemophilia B – targeted se-
quencing (familial mutation) for 8 72
carrier screening
