Dermatology

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Product	Type of test	Genes
Albinism	Targeted Exome	AP3B1, BLOC1S3, BLOC1S6/ PLDN, C10orf11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MLPH, MYO5A, OCA2, RAB27A, SLC24A5, SLC45A2, TYR, TYRP1
Cerebrotendinous xanthomatosis	Gene NGS	CYP27A1
Congenital lamellar Ichthyosis type 2	Gene NGS	ALOX12B
Congenital lamellar Ichthyosis type 3	Gene NGS	ALOXE3
Congenital lamellar Ichthyosis type 4A	Gene NGS	ABCA12
Congenital lamellar Ichthyosis type 5	Gene NGS	CYP4F22
Congenital lamellar Ichthyosis type 6	Gene NGS	NIPAL4
Epidermolysis Bullosa	Targeted Exome	COL17A1, COL7A1, DSP, DST, EXPH5, FAM111B, FERMT1, ITGA3, ITGA6, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, RECQL4, USB1
Facial Focal Dysplasia Type III	Gene NGS	TWIST2
Hipoplasia dérmica focal (Síndrome de Goltz)	Gene NGS	PORCN
Hyperkeratosis, palmoplantar,...	Gene NGS	KRT9
Ichthyosis	Targeted Exome	ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, CLDN1, CYP4F22, EBP, ERCC2, ERCC3, FLG, GBA, GJB2, GJB3, GJB4, GTF2H5, KRT1, KRT10, KRT2, LOR, MBTPS2, MPLKIP, NIPAL4, PEX7, PHYH, POMP, SLC27A4, SNAP29, SPINK5, ST14, STS, SUMF1, TGM1, VPS33B
Ichthyosis Congenital fetus type Harlequin	Gene NGS	ABCA12
Ichthyosis vulgaris	Gene NGS	NFL
Incontinentia pigmenti	Gene NGS	IKBKG
Lamellar ichthyosis congenita	Targeted Exome	TGM1, ALOX12B, CYP4F22, ALOXE3

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