Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency (ECHS1D) is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia.
Patients with ECHS1 deficiency may present with a spectrum of clinical manifestations. The age of onset is soon after birth in a majority of reported individuals.
ECHS1 deficiency is caused by compound heterozygous variants in the ECHS1 gene on the long arm (10q26.3) of chromosome 10. The diagnosis of ECHS1 deficiency is established in a proband by identification of biallelic pathogenic variants in ECHS1 with a combination of biochemical testing and/or phenotypic findings.
Genetics - Molecular Pathology
inborn error of
Patient specimen - EDTA, extracted DNA, buccal swab, saliva
Deliver same day or overnight courier, ambient temperature.
This genetic test requires nucleated cells. Please do not centrifuge or freeze the EDTA blood tube.
Ambient (8 - 24 degrees Celsius)
Please do not centrifuge or freeze the EDTA blood tube.
Coding regions and flanking intronic sequences of all 8 exons of the ECHS1 gene are amplified by PCR and analysed by automated fluorescent bi-directional DNA sequencing.
Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
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