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  ALL TESTS OFFERED

TEST ALTERNATE NAME
Lebers Hereditary optic neuropathy LHON
Lipoprotein lipase LPL
Lysinuric protein intolerance LPI / SLC7A7
Lysosomal Storage Disorders Leucocytes and cultured Fibroblasts
Medium chain acyl-Coenzyme A dehydrogenase deficiency MCAD , ACADM
MELAS
MERRF
Metanephrines (Total) Urine
Methyl Crotonyl CoA Carboxylase activity Fibroblasts
Mevalonic aciduria Mevalonate kinase deficiency / MVK / Hyper IgD syndrome
Mitochondrial DNA deletions Kearn-Sayers / Pearsons / CPEO
Mitochondrial Polymerase Gamma POLG / Alpers syndrome
Mitochondrially encoded non-syndromic deafness MT RNR-1 / MT TS-1
mtDNA, SURF1 and PDHA1 ????
MTHFR

 

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