This test is typically used to identify chromosomal abnormalities, such as extra or missing chromosomes, or structural changes in chromosomes
This test is typically used to identify chromosomal abnormalities, such as extra or missing chromosomes, or structural changes in chromosomes
This test is typically used to identify chromosomal abnormalities, such as extra or missing chromosomes, or structural changes in chromosomes
Next Generation Sequencing ;This test is recommended for patients with medical or family histories indicating a potential genetic cause for
Genetic diagnosis of cone-rod dystrophy; clinical management of vision impairment. Genelist (52): ABCA4, ADAM9, ADAMTS18, AIPL1, ARHGEF18, ATF6, BEST1, CABP4,
Genelist (179): A4GALT, ALDOB, ALDOC, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG5, ALG6, ALG8, ALG9, ARCN1, ARV1, ATP6AP1, ATP6AP2,
Diagnose Cornelia de Lange syndrome genetically; clinical management and prognosis. Genelist (45): ADNP, AFF4, ANKRD11, ARHGAP31, ARID1A, ARID1B, ASXL1, ASXL3,
Identify genetic variants related to craniosynostosis; guide surgical interventions and counseling. Genelist (92): ABCC9, ADAMTSL4, ALPL, ALX1, ALX3, ALX4, ASXL1,
Identify genetic variants causing monogenic diabetes; personalized diabetes management.
Identify genetic variants causing monogenic diabetes; precise diagnosis and treatment. Genelist (71): ABCC8, AGPAT2, AIRE, AKT2, APPL1, BLK, C10orf67, CDKN1C,
Detect genetic causes of permanent neonatal diabetes; inform clinical management. Genelist (40): ABCC8, AIRE, CNOT1, C10orf67, CP, EIF2B1, EIF2S3, EIF2AK3,
Genelist (190): AKR1C2, AKR1C4, AMH, AMHR2, ANOS1, AR, ARL6, ARX, ATF3, ATRX, B3GLCT, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5,