Page 89 - IMR Annual Report 2022: Institute for Medical Research
P. 89
Annual
IMR
Report2022 73
INSTITUTE FOR MEDICAL RESEARCH
Dr. Nurul Izzati from
Special Protein Unit
conducted a 2D gel
separation (left picture)
for MALDI-TOF machine
(right picture) at the
National Institute of
Biotechnology (NIBM),
Serdang
SDC Laboratory Diagnostics/ Services
New Diagnostic Tests Offered in 2022
No. Tests
1 NAXE-related progressive encephalopathy (NAXE gene)
2 Multiple acyl-CoA dehydrogenase deficiency (MADD) (ETFDH gene)
3 Diabetes mellitus type 1 autoantibody tests. GAD65, IA2, ICA & IAA
Molecular Test for NAXE-Related Progressive Encephalopathy (SDC) Specialised Diagnostic Centre
This test is to detect homozygous or compound heterozygous pathogenic
variants in the NAD(P)HX epimerase (NAXE) gene that causes early-onset
progressive encephalopathy with brain oedema and/ or leukoencephalopathy
1. This disorder is characterised by psychomotor regression, hypotonia, ataxia,
respiratory insufficiency, tetraparesis and seizures, leading to coma and death
in early childhood. PCR and DNA sequencing of six coding exon in the NAXE
gene were applied for analysis.
