Genetic diagnosis of 3M syndrome; guide clinical care and familial counselling. Gene list (24): ATR, BCS1L, CCDC8, CDC45, CDC6, CDT1,
Monitor quantitative levels of PML/RARA transcripts; diagnose and monitor Acute Promyelocytic Leukemia (APL).
Quantitative monitoring of PML/RARA transcripts in bone marrow; precise monitoring of APL.
Genetic analysis to identify mutations causing albinism; confirm diagnosis and genetic counseling. Genelist (35): AP3B1, AP3D1, ATP7A, BLOC1S3, BLOC1S5, BLOC1S6,
Comprehensive sequencing and deletion/duplication analysis of alpha-thalassemia genes; precise genetic diagnosis.
Alpha thalassemia gene analysis targeting HBA1 and HBA2 identifies genetic variants responsible for reduced or absent alpha-globin production, which disrupts
Identify genetic risk factors for Alzheimer’s disease; clinical management and familial risk. Genelist (41): A2M, ABCA7, ACE, ADAMTS13, ALOX5AP, APOE,
Detect genetic variants associated with hereditary aortic disorders; guide management and prevention. Genelist (63): ABCC6, ABL1, ACTA2, ADAMTSL4, ADAMTS10, ADAMTS17,
Identify genetic causes of arthrogryposis; prenatal diagnosis and genetic counseling. Genelist (107): ACTA1, AGRN, ALG14 , ALG2 , ALG3, ANTXR2,
Detect genetic causes of ataxic polyneuropathies; guide treatment and prognosis. Genelist (232): AAAS, AARS1, ABCA1, ABCD1, ABHD12, AGTPBP1, AGXT, AIFM1,
Genetic analysis for autism spectrum disorders; identify underlying genetic variants for targeted management. Genelist (417): ABCA7, ACSL4, ACTB, ACTN1, ADNP,
Detect autosomal dominant genetic causes of non-syndromic hearing loss; familial risk management. Genelist (46): ACTG1, CCDC50, CD164, CEACAM16, COCH, COL11A2,