Identify autosomal dominant mutations causing retinitis pigmentosa; familial risk counseling. Genelist (41): AIPL1, ARL3, BEST1, C1QTNF5, CA4, CRB1, CRX, EMC1,
Identify autosomal recessive genetic mutations causing hearing loss; counseling and clinical management. Genelist (80): ADCY1, BDP1, BSND, CABP2, CDC14A, CDH23,
Detect autosomal recessive mutations causing retinitis pigmentosa; genetic counseling and management. Genelist (80): ADCY1, BDP1, BSND, CABP2, CDC14A, CDH23, CEACAM16,
Bone marrow quantitative BCR-ABL p190 for leukemia diagnosis; precise leukemia monitoring.
Diagnose Bardet-Biedl syndrome genetically; clinical care and family counseling. Genelist (30): ALMS, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5,
Qualitative detection of BCR-ABL fusion genes; diagnose Philadelphia chromosome-positive leukemia. Do not Freeze. Must reach lab within 24hrs
Identify deletions/duplications in beta-globin gene; diagnose beta-thalassemia.
Beta thalassemia (HBB) gene analysis is a molecular genetic test that sequences the HBB gene to identify mutations responsible for
Genelist (134): AARS1, ABHD12, AIFM1, ARHGEF10, ASAH1, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CADM3, CCT5, CNTNAP1, COA7, COX6A1, CTDP1,
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