Categorias Webs

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Product	Type of test	Genes
Diarrhea congenital	Targeted Exome	EPCAM, SLC26A3, MYO5B, SPINT2, NEUROG3, GUCY2C ,DGAT1
Familial Hypercholesterolemia	Gene NGS	LDLR
Hipotiroidismo congénito sin bocio	Detección de deleciones/duplicaciones	False
Neurofibromatosis, type 1	Detección de deleciones/duplicaciones	NF1
Usher syndrome type IIA	Detección de deleciones/duplicaciones	USH2A
11-beta-hydroxysteroid dehydrogenase	Gene NGS	HSD11B2
17-alpha-hydroxylase deficiency	Gene NGS	CYP17A1
22q11.2 microdeletion	Gene NGS	Región genómica22q11.2
3-hydroxyacyl-CoA dehydrogenase deficiency	Gene NGS	HADH
3-M syndrome 2	Gene NGS	OBSL1
3-Methylcrotonyl-CoA carboxylase deficiency	Gene NGS	MCCC1 / MCCA
3MC syndrome	Gene NGS	MASP1, COLEC11
46XY partial gonadal dysgenesis	Gene NGS	DHH
46XY partial gonadal dysgenesis	Gene NGS	SRY
Aarskog-Scott syndrome	Gene NGS	FGD1
Abetalipoproteinemia	Gene NGS	MTTP

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