Genetic identification of osteogenesis imperfecta; inform clinical management. Genelist (42): ALPL, ANO5, ARCN1, B3GAT3, B3GALT6, B4GALT7, BMP1, CCDC134, CLCN5, COL1A1,
Genetic diagnosis of Parkinson’s disease; inform treatment decisions and familial risk. Genelist (116): ADAMTS13, ADH1C, ADORA1, AFG3L2, APOA1BP, APOE, APP,
Detect genetic causes of periodic fever syndromes and autoinflammatory diseases; targeted treatment. Genelist (154): ACP5, ADA, ADA2, ADAM17, ADAR, AICDA,
Genetic confirmation of primary ciliary dyskinesia; diagnosis and clinical management.
Performs low-resolution HLA typing for transplant compatibility. Used for rapid donor-recipient matching.
Identify genetic variants associated with retinitis pigmentosa; precise genetic diagnosis of vision disorders.
Comprehensive genetic screening for retinitis pigmentosa; precise diagnosis and prognosis. Genelist (167): ABCA4, ABHD12, ACO2, ADAM9, ADGRA3, ADGRV1, AGBL5, AHI1,
Genelist (136): ABCD1, ACO2, ADAR, AFG3L2, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSI, ATAD3A, ATL1, ATL3,
Identify genetic causes of hereditary spherocytosis; facilitate precise clinical management. Genelist (8): ANK1, EPB41, EPB42, RHAG, SLC4A1, SPTA1, SPTB, PIEZO1
Genelist (48): AARS1, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CHCHD10, DCAF8, DCTN1, DNAJB2, DNMT1, DYNC1H1, EMILIN1, EXOSC3, EXOSC8, EXOSC9, FBXO38, FIG4,
Diagnosis of skeletal dysplasias via genetic analysis; targeted management and genetic counseling. Genelist (66): ACAN, ACP5, ATP7A, B3GALT6, B3GAT3, BGN,