New and Improved Products
Product NameApplicationRegion
ME011-MMRimproved Mismatch repair genes (MMR) MLH1 3p22.2; MSH2 2p21; MSH6 2p16.3; PMS2 7p22.1; EPCAM 2p21; BRAF V600E
P021-SMACEimproved Spinal muscular atrophy (SMA) SMN1 5q13.2; SMN2 5q13.2
P072-MSH6-MUTYHCEimproved Lynch syndrome; MUTYH-associated polyposis (MAP) MSH6 2p16.3; MUTYH 1p34.1; EPCAM 2p21
P098-Wilson diseaseimproved Wilson disease ATP7B 13q14.3
P102-HBBCEimproved Beta-thalassemia; Persistence of foetal haemoglobin, hereditary (HPFH); Sickle cell anaemia (SCA); Sickle cell disease (SCD) HBB 11p15.4
P128-CYP450improvedbasic research Cytochrome P450 CYP2D6, CYP2C9, CYP2C19, CYP1B1, CYP3A4, CYP3A5, CYP2E1, CYP1A1, CYP1A2, CYP2A6, CYP2B6, GSTP1, GSTT1 and GSTM1
P158-JPSimproved Juvenile polyposis syndrome (JPS) BMPR1A 10q23, SMAD4 18q21, PTEN 10q23
P190-CHEK2CEimproved Susceptibility to breast cancer; Susceptibility to other cancer types CHEK2 22q12.1; ATM 11q22.3; TP53 17p13.1
P225-PTENCEimproved PTEN hamartoma tumor syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related proteus syndrome, Proteus-like syndrome; (Tumour analysis for research use only) PTEN 10q23.31
P278-PCCA-PCCBimproved Propionic acidemia PCCA 13q32; PCCB 3q22
P319-Thyroidimproved Thyroid dysgenesis TPO, PAX8, FOXE1, NKX2-1, TSHR
P474-CD274-PDCD1LG2-JAK2new Various cancer types CD274 (PDL1), PDCD1LG2 (PDL2), JAK2 at 9p24.1
P478-SMARCE1new Meningioma, Coffin-Siris syndrome SMARCE1, 17q21.2
P480-WHS & Achondroplasianew Wolf Hirschhorn Syndrome, Achondroplasia 4p16.3
P484-ALPLnew Hypophosphatasia (HPP) ALPL 1p36
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