Detect genetic mutations associated with MODY; precise diagnosis and tailored diabetes management.
Identify genetic causes of microcephaly; genetic diagnosis and counseling. Genelist (546): AAAS, AARS, ACADSB, ACD, ACE, ACO2, ACSL4, ACTB, ADAR,
Diagnose micromelic dysplasias genetically; prenatal diagnosis and genetic counseling. Genelist (31): ADAMTS10, ADAMTS17, ADAMTSL2, BMPR1B, DVL1, DVL3, EXT1, FBN1, FGFR3,
Genelist (50): ANO5, B3GALNT2, B4GAT1, CAVIN1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DNM2, DPM1, DPM2, DPM3, DYSF, EMD,
Genelist (34): ADSS1, AGL, AGRN, ANO5, BAG3, BICD2, CAPN3, CAV3, CCDC78, CHRNA1, CHRNB1, CHRND, CHRNE, CRYAB, DES, DNAJB6, DNM2, DYSF,
Identify genetic causes of nephrocalcinosis; guide management and prognosis. Genelist (54): ADCY10, AGXT, ALPL, AMMECR1, AP2S1, APRT, ATP6V0A4, ATP6V1B1, ATP7B,
Diagnose nephronophthisis genetically; management of progressive kidney disease. Genelist (36): ADAMTS9, AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1,
Genetic diagnosis of nephrotic syndrome; tailored clinical management and counseling. Genelist (145): ABCC6, ACE, ACTN4, ADCK4, ADGRE1, ALDH1A2, ALG1, ALMS1,
Diagnose genetic causes of neuronal migration disorders; guide patient care and prognosis. Genelist (570): ABAT, ACTB, ACTG1, ACVR1, ADAR, ADAT3,
Diagnose Noonan, CFC, and Costello syndromes; management strategies and genetic counseling.
Detect genetic factors contributing to obesity; personalized therapeutic approaches. Genelist (59): ADCY3, AFF4, ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2,