Categorias Webs

None

Product	Type of test	Genes
Adrenoleukodystrophy	Gene NGS	ABCD1
Advanced Non-invasive Prenatal Screening	Non-Invasive Fetal Trisomy Analysis	Se detecta :Cromosoma 13 (Síndrome de Patau),, 18 ( Síndrome de Edwards),, 21((síndrome de Down). y cromosomas sexuales. Delecion 22q11 (DiGeorge), 15q11 (Angelman/Prader-Wili), 1p36, 4p (Wolf-Hisrchorn), 5p (Cri-du-Chat), trisomías 9 y 16
Afibrinogenemia familiar	Gene NGS	FGB
Afibrinogenemia familiar	Gene NGS	FGA
Age-related macular degeneration (AMD)	Targeted Exome	ABCA4, APOE, ARMS2, BEST1, C2, C3, CFB, CFH, CFHR1, CFHR3, CNGB3, FBLN5, HF1, HMCN1, HTRA1, PLEKHA1
Aicardi syndrome	Targeted Exome	TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, ADAR
Aicardi-Goutieres syndrome type 1	Gene NGS	TREX1
Aicardi-Goutieres syndrome type 2	Gene NGS	RNASEH2B
Aicardi-Goutieres syndrome type 3	Gene NGS	RNASEH2C
Aicardi-Goutieres syndrome type 4	Gene NGS	RNASEH2A
Alagille syndrome	Gene NGS	NOTCH2, JAG1
Alagille syndrome type 1	Gene NGS	JAG1
Albinism	Targeted Exome	AP3B1, BLOC1S3, BLOC1S6/ PLDN, C10orf11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MLPH, MYO5A, OCA2, RAB27A, SLC24A5, SLC45A2, TYR, TYRP1
Alkaptonuria	Gene NGS	HGD
Alpha-1 antitrypsin	Gene NGS	SERPINA1
Alpha-thalassemia/mental retardation X-Linked	Gene NGS	ATRX

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