Page 38 - IMR Annual Report 2022: Institute for Medical Research

IMR Annual
22
Report2022
INSTITUTE FOR MEDICAL RESEARCH

Molecular Genetic Haematology Laboratory Tests in 2022

Type of test Test performed Number of Tests
Molecular Test for Beta Globin Multiplex ARMS PCR 431
Gene/ Cluster Multiplex GAP PCR 1702
MLPA 104
Sequencing 2820

Molecular Test for Alpha Globin Multiplex ARMS PCR 3007
Gene/ Cluster Multiplex GAP PCR 2142
MLPA 734
Sequencing 978

Haemophilia A & 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
IX deficiency). Our laboratory offers factor VIII and factor IX 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 A and Haemophilia B in the affected male patients
and also helps to determine the carrier status for female patients with a positive
family history. Identification of the causative alteration in factor VIII and factor IX
genes is useful for confirmation of diagnosis, prognostication on clinical severity
and risk of inhibitor development and also genetic counselling purposes.

Haemophilia A Genotyping Tests in 2022

2022
Type of Test Test Performed
Samples Test
Haemophilia A Intron 22 Inversion 44 308
Genotyping Intron 1 Inversion 18 108
Full F8 Sequencing 37 6993
Targeted F8 Sequencing 21 189
Multiplex Ligation-dependent Probe 5 20
Cancer Research Centre (CaRC) Haemophilia B Genotyping Tests in 2022
Amplication (MLPA) F8

Type of Test Test Performed Samples Test
Haemophilia B Full F9 Sequencing 13 572
Genotyping Targeted F9 Sequencing 23 207
Multiplex Ligation-dependent Probe 2 9
Amplication (MLPA) F9