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  TESTS FILTERED BY CATEGORY TYPE

Genetics

TEST ALTERNATE NAME
MERRF
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 ????
Myotonic Dystrophy MYD
N-acetyltransferase 2 arylamine N-acetyltransferase / NAT2
NARP
nephrosis 2, idiopathic, steroid-resistant (podocin) NPHS2, SRN
Non-invasive fetal sex determination cell free DNA sex determination
Ornithine transcarbamylase OTC
Prader-Willi/Angelman's Syndrome PW
Pyruvate dehydrogenase subunit PDHA1
Retinal Degenerative Disorders RDD

 

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