Cell-free DNA test through maternal blood to screen for aneuploidy in the 24 chromosomes in addition to Sex chromosome aneuploidies
Detect mutations causing Joubert syndrome; genetic diagnosis and family counseling. Genelist (46): AHI1, ARL3, ARL13B, ARMC9, B9D1, B9D2, CFAP410, CPLANE1,
Genetic diagnosis of Kartagener syndrome; treatment planning and genetic counseling. Genelist (2): DNAI1, DNAH5
Analyze two exons for known familial genetic variants; precise familial risk assessment.
Genelist (104): AIFM1, ALDH5A1, ARX, ATP5MD, BCS1L, BTD, CLPB, COA5, COQ9, COX10, COX14, COX15, COX6B1, COX8A, CPT2, DLAT, DLD, DNM1L,
Detect genetic mutations causing leukodystrophy; clinical management and prognosis. Genelsit (535): AARS1, AARS2, ABAT, ABCA1, ABCD1, ACADS, ACBD5, ACER3, ACOX1,
Genelist (68): ANO5, B3GALNT2, BICD2, BVES, CAPN3, CAV3, CHKB, COL4A1, COL4A2, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB6, DPM3, DYSF, FKRP,
Detect mutations related to lissencephaly; guide diagnosis and treatment planning. Genelist (63): ACTB, ACTG1, ADGRG1, APC2, ARX, ATP6V0A2, B3GALNT2, B4GAT1,
Genetic diagnosis of long QT syndrome; manage risk of arrhythmias and sudden death. Genelist (44): ABCC9, AKAP9, ALG10B, ANK2, CACNA1C,
Genelist (68): ANO5, B3GALNT2, BICD2, BVES, CAPN3, CAV3, CHKB, COL4A1, COL4A2, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB6, DPM3, DYSF, FKRP,
Identify genetic variants associated with macrocephaly; differential diagnosis and counseling. Genelist (205): ABCC9, ADK, AKT1, AKT2, AKT3, ANKH, APC2, ARSB,
Genetic diagnosis of Marfan syndrome; clinical management and surveillance strategies. Genelist (55): ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTSL2, ADAMTSL4, AEBP1, B3GAT3,