new products
P339-SHANK3
Autism Spectrum Disorder
P010-POLG
Mitochondrial maintenance
P366-CHM-RP2-RPGR
Retinitis pigmentosa (RP)
P350-CLCN1-KCNJ2
Myotonia congenita, Thomsen’s disease, Becker’s disease, Andersen-Tawil syndrome
P273-PCSK5
Atherosclerotic cardiovascular disease (risk of)

improved products
P044-NF2
Neurofibromatosis type 2 (NF2)
P199-HEXA
Tay-sachs disease
P214-COL2A1
Skeletal disorders, Achondrogenesis, Chondrodysplasia, Early onset familial Osteoarthritis, SED congenital, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome, Spondyloepimetaphyseal
P280-SLC26A4
Pendred syndrome
P026-Sotos
Sotos syndrome
ME011-MMR
Mismatch repair genes (MMR)
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