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Product | Type of test | Genes |
---|---|---|
Congenital hypothyroidism | Gene NGS | THRA |
Congenital hypothyroidism | Gene NGS | IGSF1 |
Congenital hypothyroidism | Gene NGS | LHX3 |
Congenital hypothyroidism | Gene NGS | OTX2 |
Congenital hypothyroidism | Gene NGS | POU1F1 |
Congenital hypothyroidism | Gene NGS | SLC5A5 |
Congenital hypothyroidism | Targeted Exome | TRHR, PAX8, TSHB, NKX2-5, THRA, IGSF1, HESX1, LHX3, LHX4, SOX3, OTX2, PROP1, POU1F1, TSHR, FOXE1, TPO, TG, DUOX1, DUOXA2, SLC26A4, DEHAL1, SLC5A5 |
Diabetes MODY type 5 | Gene NGS | HNF1B |
Familial hyperinsulinism | Targeted Exome | ABCC8, KCNJ11, GLUD1, HNF4A, GCK, HADH, UCP2 |
Familial non-autoimmune hyperthyroidism | Gene NGS | TSHR |
HDR syndrome. Hypoparathyroidism,... | Gene NGS | GATA3 |
Hypercholesterolemia | NGS Panel | APOB, LDLR, PCSK9, GHR, LDRAP1 |
Hyperparathyroidism (Jaw Tumor Syndrome) | Gene NGS | CDC73 |
Hypobetalipoproteinemia | NGS Panel | MTTP, APOB, PCSK9 |
Hypogonadotropic hypogonadism | Targeted Exome | CHD7, FGF8, FGFR1, GNRH1, GNRHR, KAL1, KISS1, KISS1R, NR0B1, NELF, PROK2, PROKR2, TAC3, TACR3 |
Hypogonadotropic hypogonadism 7 | Gene NGS | GNRHR |