Skin
Product NameApplicationRegion
ME024-9p21 Tumours, Cutaneous melanoma 9p21, CDKN2A, CDKNA2B
P046-TSC2 Tuberous Sclerosis TSC2 16p13.3
P067-PTCH1 Gorlin syndrome PTCH1 9q22.3
P073-IKBKG Incontinentia Pigmenti Xq28; IKBKG, NEMO, IKBKGP
P081-NF1 mix 1 Neurofibromatosis NF1 17q11.2
P082-NF1 mix 2 Neurofibromatosis NF1 17q11.2
P092-ABCC6 Pseudoxanthoma elasticum ABCC6 16p13.11
P122-NF1-area Neurofibromatosis NF1 17q11.2
P124-TSC1 Tuberous Sclerosis TSC1 9q34
P160-STS Steroid Sulfatase gene (STS) STS Xp22
P186-PAX3-MITF-SOX10 Waardenburg syndrome (WS) type II, WS1, WS3 PAX3 2q35, MITF 3p14, SOX10 22q13.1
P256-FLCN Birt-Hogg-Dube syndrome FLCN 17p11, Smith-Magenis syndrome region
P257-TERT-DKC1 Dyskeratosis congenita (DC) DKC1 Xq28
P289-LMX1B Nail patella syndrome (NPS) LMX1B 9q33
P295-SPRED1 SPRED1 SPRED1 15q14
P325-OCA2 oculocutaneous albinism OCA2 15q12; TYR 11q14.3
P337-TSC2 Tuberous sclerosis TSC2 gene, 16p13.3
P354-KIT SNAI2 Piebaldism/KIT KIT 4q12, SNAI2 8q11
P411-Porphyria mix 1 Porphyrias ALAD, HMBS, PPOX
P412-Porphyria mix 2 Porphyrias FECH, UROS, UROD, CPOX
P415-COL7A1-KRT5 Epidermolysis Bullosa Hereditaria 3p21.31 COL7A1, 12q13.13 KRT5
P416-KRT14-LAMA3-LAMB3-LAMC2 Epidermolysis Bullosa Hereditaria 17q21.2 KRT14; 18q11.2 LAMA3; 1q32.2 LAMB3; 1q25.3 LAMC2
P419-CDKN2A/2B-CDK4 Familial melanoma CDKN2A, CDKN2B, CDK4, MITF E318K
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