Skin
Product NameApplicationRegion
ME024-9p21 Tumours, Cutaneous melanoma 9p21: CDKN2A, CDKN2B, and flanking genes
P046-TSC2 Tuberous sclerosis complex (TSC) TSC2 16p13.3
P067-PTCH1 Gorlin syndrome; 9q22.3 Microdeletion PTCH1 9q22.3
P073-IKBKG Incontinentia pigmenti IKBKG Xq28; IKBKGP Xq28; G6PD Xq28; CTAG1A Xq28
P081-NF1 mix 1CE;MA;IL Neurofibromatosis type 1 (NF1) NF1 17q11.2
P082-NF1 mix 2CE;MA;IL Neurofibromatosis type 1 (NF1) NF1 17q11.2
P092-ABCC6 Pseudoxanthoma elasticum ABCC6 16p13.11
P122-NF1-area Neurofibromatosis type 1 NF1 17q11.2
P124-TSC1CE Tuberous sclerosis complex (TSC) TSC1 9q34.13
P160-STS Steroid Sulfatase gene (STS) STS Xp22
P186-PAX3-MITF-SOX10 Waardenburg syndrome type 1 (WS1), 2A (WS2A), 2E (WS2E), 3 (WS3), 4C (WS4C) PAX3 2q36.1; MITF 3p14.1; SOX10 22q13.1
P256-FLCN Birt-Hogg-Dube syndrome FLCN 17p11.2; Smith-Magenis syndrome region
P257-TERT-DKC1 Dyskeratosis congenita (DC) DKC1 Xq28; TERT 5p15.33; TERC 3q26.2
P289-LMX1B Nail-patella syndrome (NPS) LMX1B 9q33.3
P295-SPRED1 Legius syndrome SPRED1 15q14
P325-OCA2 Oculocutaneous albinism type 1 (OCA1); Oculocutaneous albinism type 2 (OCA2) OCA2 15q13.1; TYR 11q14.3
P337-TSC2 Tuberous sclerosis complex (TSC) TSC2 16p13.3
P354-KIT SNAI2 Piebaldism KIT 4q12; SNAI2 8q11.21
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
P474-CD274-PDCD1LG2-JAK2 Various cancer types CD274 (PDL1), PDCD1LG2 (PDL2), JAK2 at 9p24.1
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