Diagnose Waardenburg syndrome genetically; clinical management and family counseling. Genelist (9): EDN3, EDNRB, KIT, KITLG, MITF, PAX3, SNAI2, SOX10, TYR
Identify genetic mutations causing Warburg-Micro syndrome; targeted care and genetic counseling. Genelist (4): RAB3GAP1, RAB18, RAB3GAP2, TBC1D20
Next Generation Sequencing (NGS); This test is recommended for patients with medical or family histories indicating a potential genetic cause
Next Generation Sequencing (NGS); Trio testing involves analyzing the genetic information of a child alongside their biological parents. This approach
Diagnose Wiskott-Aldrich syndrome genetically; clinical intervention and family planning. Genelist (2): WAS, WIPF1
Diagnose genetic causes of X-linked intellectual disability; precise diagnosis and genetic counseling. Genelist (161): ABCD1, ACSL4, AFF2, AGTR2, AIFM1, ALG13,
Genetic diagnosis of Zellweger syndrome; family counseling and clinical management. Genelist (33): ABCD1, ABCD3, ACAA1, ACBD5, ACOX1, AGPS, AGXT, AMACR,