MRC Holland，我们相信可靠的遗传分析应该为每个人提供。我们的使命是为诊断和研究目的提供易于使用，高质量和负担得起的遗传工具。
mrcholland产品
SALSA MC002 SMA Newborn Screen
SMA
5q13.2
Melt Assay
Probemix P018 SHOX
Leri-Weill dyschondrosteosis (LWD); Langer mesomelic dysplasia (LMD); Idiopathic short stature (ISS)
SHOX Xp22.33/Yp11.32
MLPA
Probemix P021 SMA
Spinal muscular atrophy (SMA)
SMN1 5q13.2; SMN2 5q13.2
MLPA
Probemix P033 CMT1
Charcot-Marie-Tooth neuropathy (CMT); Neuropathy with liability to pressure palsies, hereditary (HNPP)
CMT/HNPP region 17p12; KIF1b 1p36
MLPA
Probemix P034 DMD mix 1
Duchenne muscular dystrophy (DMD); Becker muscular dystrophy (BMD)
DMD Xp21.1-p21.2
MLPA
Probemix P035 DMD mix 2
Duchenne muscular dystrophy (DMD); Becker muscular dystrophy (BMD)
DMD Xp21.1-p21.2
MLPA
Probemix P036 Subtelomeres Mix 1
Subtelomeric testing
All subtelomeres
MLPA
Probemix P050 CAH
Congenital adrenal hyperplasia (CAH)
CYP21A2 6p21.3
MLPA
Probemix P055 PAH
Phenylketonuria (PKU)
PAH 12q23.2
MLPA
Probemix P060 SMA Carrier
Spinal muscular atrophy (SMA)
SMN1 5q13.2; SMN2 5q13.2
MLPA
Probemix P070 Subtelomeres Mix 2B
Subtelomeric testing
All subtelomeres
MLPA
Probemix P091 CFTR
Cystic fibrosis; Congenital absence of the vas deferens (CAVD)
CFTR 7q31.2
MLPA
Probemix P095 Aneuploidy
Down syndrome; Edwards syndrome; Patau syndrome; Turner syndrome; Triple X syndrome; Klinefelter syndrome; XYY syndrome
Chr. 13, 18, 21, X, Y
MLPA
Probemix P140 HBA
Alpha-thalassemia
HBA 16p13.3
MLPA
Probemix P250 DiGeorge
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
MLPA
Probemix P405 CMT1
Charcot-Marie-Tooth neuropathy (CMT); Neuropathy with liability to pressure palsies, hereditary (HNPP)
CMT/HNPP region 17p12; MPZ 1q23.3; GJB1 Xq13.1