Detect genetic mutations causing dystonia; precise diagnosis and tailored therapy. Genelist (232): AARS1, AARS2, ACTB, ACY1, ADAR, ADCY5, AFG3L2, ALS2,
Genetic diagnosis of ectodermal dysplasia; guide clinical management. Genelist (106): ANTXR1, APCDD1, AR, ATP7A, AXIN2, BANF1, BCS1L, BMP4, CDH3, CDSN,
Identify genetic variants causing Ehlers-Danlos syndrome; management of connective tissue disorder. Genelist (65): ABCC6, ACTA2, ADAMTS2, ADAMTSL2, AEBP1, ALDH18A1, ATP6AP1,
Detect genetic mutations causing metabolic epilepsy; targeted therapeutic strategies. Genelist (116): ACO2, ALDH4A1, ALDH5A1, ALDH7A1, AP4M1, APTX, ARG1, ARSA, ASAH1,
Identify genetic mutations linked to epilepsy; facilitate diagnosis, prognosis, and treatment planning. Genelist (1226): AARS, AARS1, AASS, ABAT, ABCA2, ABCC8,
Re-analysis of previously obtained exome sequencing data; identify novel diagnostic insights.
Identify genetic causes of familial hemophagocytic lymphohistiocytosis; guide urgent treatment. Genelist (43): ADA, AP3B1, AP3D1, BLOC1S6, BTK, CD27, CD70, CORO1A,
Detect genetic mutations linked to familial hypercholesterolemia; cardiovascular risk assessment. Genelist (4): APOB, LDLR, LDLRAP1, PCSK9
Genelist (172): AAAS, ABCC8, ABCD1, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACSF3, ADK, AGL, AKT2, AKT3, ALDH7A1, ALDOA, ALDOB,
Cell-free DNA test through maternal blood to screen for aneuploidy involving chromosomes 13, 18, 21 in addition to Sex chromosome
Cell-free DNA test through maternal blood to screen for aneuploidy in the 24 set of chromosome, fetal gender is included.