Product NameApplicationRegion
P021-SMA Spinal Muscular Atrophy (SMA) SMN1, SMN2, 5q13
P033-CMT1CE Charcot-Marie Tooth disease (CMT1), Hereditary Neuropathy with liability to Pressure Palsies (HNPP) CMT1/HNPP region, 17p12
P034-DMD-1CE Duchenne Muscular Dystrophy (DMD) DMD, Xp21.2
P035-DMD-2CE Duchenne Muscular Dystrophy (DMD) DMD, Xp21.2
P048-LMNA/MYOT/ZMPSTE24 Laminopathies, Limb-girdle muscular dystrophy, Myofibrillar myopathies LMNA 1q22; ZMPSTE24 1p34; MYOT 5q31; CAV3 3p25
P058-IGHMBP2 Distal spinal muscular atrophy 1 (DSMA1), SMARD1, dHMN6 IGHMBP2 11q13
P060-SMACE Spinal Muscular Atrophy (SMA) SMN1, SMN2, 5q13
P061-Lissencephaly Lissencephaly LIS1, DCX, POMT1, POMGnT1, FLNA
P074-AR Androgen insensitivity syndrome (AIS) AR Xq12
P116-SGC Limb-girdle muscular dystrophy (LGMD) SGCA, SGCB, SGCD, SGCG, FKRP
P129-GJB1 Charcot Marie Tooth disease, x-linked GJB1 Xq13.1
P143-MFN2-MPZ Charcot-Marie-Tooth disease (CMT2A/1B) MFN2 1p36.22, MPZ 1q23.3
P176-CAPN3 Limb girdle muscular dystrophy 2A (LGMD2A) CAPN3 15q15.1
P268-DYSF Limb girdle muscular dystrophies (LGMD) DYSF 2p13
P279-CACNA1A Episodic ataxia 2, Familial hemiplegic migraine CACNA1A
P307-SEPT9 Hereditary neuralgic amyotrophy (HNA) SEPT9 17q25.3
P309-MTM1 Myotubular myopathy, x-linked (XLMTM) MTM1 Xq28, MTMR1 Xq28
P326-LARGE1 Walker-Warburg Syndrome LARGE, FKTN, POMT2
P348-ATP1A2-CACNA1A Migraine 1q23, 19p13
P350-CLCN1-KCNJ2 Myotonia congenita, Thomsen’s disease, Becker’s disease, Andersen-Tawil syndrome CLCN1, KCNJ2
P353-CMT4 autosomal recessive demyelinating form SH3TC2; NEFL; GDAP1; EGR2; SBF2; MTMR2; PRX
P391-LAMA2 mix 1 CMD, Merosin-deficient 6q22.33
P392-LAMA2 mix 2 CMD, Merosin-deficient 6q22.33
P397-SCN4A-CACNA1S nondystrophic myotonias and primary periodic paralyses CACNA1S, SCN4A
P405-CMT1CE Charcot Marie Tooth Disease CMT/HNPP region at 17p12
P406-CMT2 CMT2B/2D/2F various
P436-ANO5 Limb-girdle muscular dystrophy ANO5 gene
P453-GAA Pompe Disease 17q25.3
P460-SMA Spinal muscular Athrophy 5q13.2
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