Newborn
SALSA Melt Assays
Product Code Product Name
MC002CE SALSA MC002 SMA Newborn Screen

SALSA MLPA Probemixes
Product NameApplicationRegion
P018-SHOXCECOIL Leri-Weill dyschondrosteosis (LWD); Langer mesomelic dysplasia (LMD); Idiopathic short stature (ISS) SHOX Xp22.33/Yp11.32
P033-CMT1CEMAIL Charcot-Marie-Tooth neuropathy (CMT); Neuropathy with liability to pressure palsies, hereditary (HNPP) CMT/HNPP region 17p12; KIF1b 1p36
P034-DMD-1CECOMAIL Duchenne muscular dystrophy (DMD); Becker muscular dystrophy (BMD) DMD Xp21.1-p21.2
P035-DMD-2CECOMAIL Duchenne muscular dystrophy (DMD); Becker muscular dystrophy (BMD) DMD Xp21.1-p21.2
P036-Subtelomeres Mix 1CEMAIL Subtelomeric testing All subtelomeres
P055-PAHCEMA Phenylketonuria (PKU) PAH 12q23.2
P060-SMACECOMAIL Spinal muscular atrophy (SMA) SMN1 5q13.2; SMN2 5q13.2
P070-Subtelomeres Mix 2BCEMAIL Subtelomeric testing All subtelomeres
P091-CFTRCEMAIL Cystic fibrosis; Congenital absence of the vas deferens (CAVD) CFTR 7q31.2
P095-AneuploidyCECOMAIL Down syndrome; Edwards syndrome; Patau syndrome; Turner syndrome; Triple X syndrome; Klinefelter syndrome; XYY syndrome Chr. 13, 18, 21, X, Y
P140-HBACECOMAIL Alpha-thalassemia HBA 16p13.3
P250-DiGeorgeCECOIL DiGeorge syndrome; 22q11.2 deletion syndrome; 22q11.2 duplication syndrome; DGS type II; Disorders with phenotypic features of DGS; Cat eye syndrome (CES); Velocardiofacial syndrome (VCFS) 22q11.2; 22q13; 17p; 10p; 9q; 8p; 4q
P405-CMT1CEMAIL Charcot-Marie-Tooth neuropathy (CMT); Neuropathy with liability to pressure palsies, hereditary (HNPP) CMT/HNPP region 17p12; MPZ 1q23.3; GJB1 Xq13.1
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