DNA resultat Embark:
Centronuclear Myopathy,CNM PTPLA NN Clear
Degenerative Myelopathy,DM SOD1(A) GG Clear
Exercise-Induced Collapse, EIC DNM1 GG Clear
Hereditary Nasal Parakeratosis,HNPK SUV39H2 GG Clear
Hyperuricosuria and Hyperuricemia or Urolithiasis, HUU SLC2A9 (Exon 5) GG Clear
Macular Corneal Dystrophy, MCD CHST6 CC Clear
Narcolepsy HCRTR2 AA Clear
Progressive Retinal Atrophy, prcd PRCD Exon 1 GG Clear
Pyruvate Kinase Deficiency PKLR Exon 7 SNP Variant 1 CC Clear
Skeletal Dysplasia 2, SD2 COL11A2 GG Clear
Myotubular Myopathy 1, X-linked Myotubular Myopathy, XLMTM
MTM1 (Exon 7) CC Clear
Progressive Retinal Atrophy, crd4/cord1 RPGRIP1 (Exon 2) NN Clear
Stargardt Disease ABCA4 Exon 28 NN Clear
Ullrich-like Congenital Muscular Dystrophy COL6A3 GG Clear
Body Size (IGF1)
Intermediate NI
Body Size (IGFR1) Larger GG
Body Size (STC2) Larger TT
Body Size (GHR – E191K)
Intermediate GA
Body Size (GHR – P177L) Larger CC
Performance RESULT
GENETIC
RESULT
Altitude Adaptation (EPAS1) Normal altitude tolerance GG
Appetite (POMC) LINKAGE Normal food motivation NN