GC_33 Primary Ovarian Insufficiency
Last update: 19.01.2026
AARS2, BMP15, BMPR1B, BUB1B, C14orf39, CLPP, CYP17A1, CYP19A1, DACH2, EIF2B4, EIF2B5, EIF4ENIF1, FANCM, FIGLA, FMR1, FOXL2, FSHB, FSHR, GALT, GDF9, GGPS1, GNAS, HARS2, HFM1, HSD17B4, HSF2BP, KHDRBS1, LARS2, LHCGR, LMNA, MCM8, MCM9, MSH4, MSH5, NANOS3, NOBOX, NOG, NR5A1, NUP107, PGRMC1, PMM2, POF1B, POLG, POLR2C, POLR3H, POR, POU5F1, PSMC3IP, RCBTB1, SGO2, SOHLH1, SOHLH2, STAG3, STAR, SYCE1, SYCP2L, TWNK, WT1
ClinVar P/LP variants (IDs) not covered: GALT: [4541441]
GC_36 Hypogonadotropic and Hypogonadism
Hypogonadotropic hypogonadism is caused by impaired function of the hypothalamic-pituitary-gonadal axis, resulting from abnormalities affecting gonadotropin-releasing hormone secretion or action, or impaired production or action of the pituitary gonadotropins LH and FSH. Clinical manifestations may include absent or incomplete puberty, infertility, and reduced sex hormone production. Some forms are associated with anosmia or hyposmia, whereas others are normosmic.
This panel includes genes associated with isolated and syndromic forms of hypogonadotropic hypogonadism, including Kallmann syndrome, congenital GnRH deficiency, gonadotropin deficiencies, selected forms of multiple pituitary hormone deficiency, and related reproductive disorders.
This panel is recommended for patients with delayed or absent puberty accompanied by biochemical evidence of hypogonadotropic hypogonadism, with or without anosmia, as well as for patients with clinical findings suggestive of an inherited hypothalamic or pituitary reproductive disorder.
Last update: 19.01.2026
AMH, AMHR2, ANOS1, ARHGAP35, AXL, CCDC141, CHD4, CHD7, CLPP, CPE, CUL4B, CYP19A1, DCAF17, DHCR7, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GLI2, GNRH1, GNRHR, HAMP, HESX1, HFE, HS6ST1, HSD3B2, IGSF10, IL17RD, KISS1, KISS1R, KLB, LAS1L, LEP, LEPR, LHB, LHCGR, LHX4, LMNA, NDNF, NR0B1, NSMF, PCSK1, PLXNA1, PLXNA3, POLR3B, PROK2, PROKR2, PROP1, PRORP, RELN, RNF216, SEMA3A, SEMA3F, SLC29A3, SLC40A1, SOX10, SOX11, SOX2, SOX3, SPRY4, SRA1, SRY, TAC3, TACR3, TCF12, TFR2, WDR11
GC_49 Hyperparathyroidism Hypocalciuric Hypercalcaemia
Inherited disorders of calcium and parathyroid homeostasis may cause hypercalcemia, elevated or inappropriately normal parathyroid hormone concentrations, nephrolithiasis, reduced bone mineral density, or incidentally detected biochemical abnormalities.
This panel includes genes associated with familial hypocalciuric hypercalcemia, inherited forms of primary hyperparathyroidism, multiple endocrine neoplasia syndromes, parathyroid tumor predisposition, and other genetic disorders that may present with hypercalcemia or abnormal parathyroid hormone regulation.
This panel is recommended for patients with early-onset, recurrent, familial, or otherwise unexplained hypercalcemia and/or hyperparathyroidism, particularly when distinguishing familial hypocalciuric hypercalcemia from other inherited causes is clinically important.
Last update: 15.01.2026
AIRE, AP2S1, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, GCM2, GNA11, MEN1, PTH, RET, TRPV6
GC_50 Hypoparathyroidism
Hypoparathyroidism is characterized by deficient or inappropriately low parathyroid hormone secretion, resulting in hypocalcemia and hyperphosphatemia. Related inherited disorders may also impair parathyroid development, calcium sensing, or parathyroid hormone action.
This panel includes genes associated with isolated and syndromic hypoparathyroidism, pseudohypoparathyroidism and related hormone-resistance disorders, and other inherited disturbances of calcium-phosphate homeostasis.
This panel is recommended for patients with unexplained hypocalcemia and low or inappropriately normal parathyroid hormone concentrations, particularly in the setting of early-onset disease, syndromic features, or a family history suggestive of an inherited disorder of calcium or parathyroid regulation.
Last update: 16.01.2026
AIRE, CASR, CHD7, CYP24A1, FAM111A, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PDE4D, PTH, PTH1R, SLC34A1, STX16, TBCE, TBX1
ClinVar P/LP variants (IDs) not covered: HADHB: [3359235]
GC_67 Congenital Hypothyroidism
Congenital hypothyroidism is characterized by thyroid hormone deficiency presenting in the neonatal period or early infancy and is commonly identified through newborn screening. Genetic causes may involve abnormalities of thyroid development, thyroid hormone synthesis, hypothalamic-pituitary regulation, or thyroid hormone transport and action.
This panel includes genes associated with the major genetic causes of congenital hypothyroidism, including thyroid dysgenesis, dyshormonogenesis, central hypothyroidism, and disorders of thyroid hormone transport or action.
This panel is recommended particularly for patients with central congenital hypothyroidism, familial thyroid dysgenesis, suspected dyshormonogenesis, or congenital hypothyroidism accompanied by syndromic or extra-thyroidal features.
Last update: 07.01.2026
AIRE, CASR, CDC73, CDCA8, DIO1, DUOX2, DUOXA2, FOXE1, GATA3, GCM2, GLIS3, GNA11, GNAS, HESX1, IGSF1, IRS4, IYD, LHX3, LHX4, NKX2-1, NKX2-5, OTX2, PAX8, POU1F1, PRKAR1A, PROP1, PTH, SECISBP2, SLC16A2, SLC26A4, SLC26A7, SLC5A5, TBCE, TBL1X, TG, THRA, THRB, TPO, TRHR, TSHB, TSHR, TTF1, TUBB1, UBR1
GC_72 Disorders of Sex Development
Last update: 07.01.2026
AMH, AMHR2, ANOS1, AR, ARX, ATRX, B3GLCT, BCOR, CBX2, CCNQ, CDK9, CDKN1C, CEP41, CHD4, CHD7, CKAP2L, CREBBP, CTU2, CUL4B, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DHCR7, DHH, DHX37, DMRT1, DYNC2H1, ERCC3, ESR2, FEZF1, FGF17, FGF8, FGFR1, FGFR2, FIG4, FRAS1, FREM2, FSHB, GATA4, GNRH1, GNRHR, H6PD, HHAT, HOXA13, HS6ST1, HSD17B3, HSD3B2, IL17RD, IRF6, KISS1, KISS1R, KL, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, MAMLD1, MAP3K1, MKRN3, MKS1, MYRF, NR0B1, NR2F2, NR3C1, NR5A1, NSMF, PAX8, PBX1, POLR3B, POR, PPP1R12A, PRDM13, PROK2, PROKR2, PROP1, PSMC3IP, RNF216, RPL10, RSPO1, SAMD9, SGPL1, SOX10, SOX2, SOX9, SPECC1L, SRD5A2, SRY, STAR, TAC3, TACR3, TCF12, TNK2, TOE1, TSPYL1, TWIST2, UBR1, WDR11, WNT4, WNT9B, WT1, WWOX, ZFPM2
ClinVar P/LP variants (IDs) not covered: CYP11B1:[4281641] | HOXA13:[1679196] | WWOX:[4294336]
GC_77 Conginital Adrenal Hyperplasia
Congenital adrenal hyperplasia comprises inherited disorders of adrenal steroidogenesis that may impair cortisol, aldosterone, and/or androgen synthesis or action. Clinical manifestations may include adrenal insufficiency, salt-wasting, atypical genital development, virilization, premature adrenarche, menstrual abnormalities, and infertility.
This panel includes genes associated with the major forms of congenital adrenal hyperplasia as well as related disorders of adrenal steroidogenesis and inherited adrenal insufficiency.
This panel is recommended for patients with suspected congenital adrenal hyperplasia, abnormal newborn screening results, unexplained adrenal insufficiency, abnormal steroid profiles, atypical genital development, or other findings suggestive of an inherited disorder of adrenal steroid synthesis.
Last update: 07.01.2026
AAAS, ABCD1, AIRE, ARMC5, CDKN1C, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, HSD3B2, MC2R, MCM4, MRAP, NNT, NR0B1, NR5A1, PDE11A, PDE8B, POLE, POR, PRKAR1A, SAMD9, SGPL1, STAR, TBX19
ClinVar P/LP variants (IDs) not covered: CYP11B1:[4281641]