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August 2025
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Gene test interpretation: ACKR1 (Duffy blood group gene)
Gene test interpretation: ADAMTS13 (hereditary TTP gene)
Gene test interpretation: APC
Gene test interpretation: APOL1 (chronic kidney disease gene)
Gene test interpretation: ARSA (metachromatic leukodystrophy gene)
Gene test interpretation: ATM (ataxia-telangiectasia, breast cancer, and pancreatic cancer susceptibility gene)
Gene test interpretation: ATP7B (Wilson disease gene)
Gene test interpretation: BMPR1A
Gene test interpretation: BRCA1 and BRCA2
Gene test interpretation: CDH1 (gene for cadherin 1)
Gene test interpretation: CFTR (cystic fibrosis gene)
Gene test interpretation: CHEK2
Gene test interpretation: COL3A1 (vascular Ehlers-Danlos syndrome gene)
Gene test interpretation: Congenital long QT syndrome genes (KCNQ1, KCNH2, SCN5A)
Gene test interpretation: CTNNA1 (catenin alpha-1, alpha-catenin gene)
Gene test interpretation: F11 (gene for coagulation factor XI)
Gene test interpretation: Factor V Leiden
Gene test interpretation: Familial hypercholesterolemia genes (LDLR, APOB, PCSK9)
Gene test interpretation: FBN1 (Marfan syndrome gene)
Gene test interpretation: G6PD
Gene test interpretation: GLA (Fabry disease gene)
Gene test interpretation: HBA1 and HBA2 (alpha globin genes)
Gene test interpretation: Hemoglobin C (Hb C) variant in the hemoglobin beta locus (HBB)
Gene test interpretation: HEXA (Tay-Sachs disease gene)
Gene test interpretation: HFE (hereditary hemochromatosis gene)
Gene test interpretation: HNF1B (renal cysts and diabetes syndrome gene)
Gene test interpretation: Hypertrophic cardiomyopathy genes (MYBPC3, MYH7, TNNT2, TNNI3, MYL2, MYL3, ACTC1, TPM1)
Gene test interpretation: Lynch syndrome genes (MLH1, MSH2, MSH6, PMS2, EPCAM)
Gene test interpretation: Malignant hyperthermia susceptibility genes (RYR1, CACNA1S, and STAC3)
Gene test interpretation: MEFV (familial Mediterranean fever gene)
Gene test interpretation: MEN1 (multiple endocrine neoplasia type 1 gene)
Gene test interpretation: MUTYH
Gene test interpretation: PALB2 (hereditary breast, ovarian, and pancreatic cancer susceptibility gene)
Gene test interpretation: POLD1 and POLE (hereditary colorectal cancer genes)
Gene test interpretation: Prothrombin G20210A
Gene test interpretation: PTEN (hamartoma tumor syndromes gene)
Gene test interpretation: RB1
Gene test interpretation: RET (multiple endocrine neoplasia type 2 gene)
Gene test interpretation: RPE65 (retinitis pigmentosa and Leber congenital amaurosis gene)
Gene test interpretation: SERPINA1 (alpha-1 antitrypsin gene)
Gene test interpretation: Sickle cell variant in the hemoglobin beta locus (HBB)
Gene test interpretation: SMAD4
Gene test interpretation: STK11 (Peutz-Jeghers syndrome gene)
Gene test interpretation: TP53 (Li-Fraumeni syndrome gene)
Gene test interpretation: TSC1 and TSC2 (tuberous sclerosis complex genes)
Gene test interpretation: VHL (von Hippel-Lindau) gene
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