List of diseases covered by
Female Infertility NGS panel
| Gene | Condition |
| ANOS1 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) |
| AR | Aplasia of the uterus |
| BMP15 | Premature ovarian failure 4 |
| BMP4 | Microphthalmia, syndromic 6; Orofacial cleft 11 |
| CASR | Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant; Hypocalciuric hypercalcemia, type I |
| CFTR | Cystic fibrosis |
| CLPP | Perrault syndrome 3 |
| DUOX2 | Thyroid dyshormonogenesis 6 |
| DUOXA2 | Thyroid dyshormonogenesis 5 |
| DUSP6 | Hypogonadotropic hypogonadism 19 with or without anosmia |
| EIF2B1 | Leukoencephalopathy with vanishing white matter |
| EIF2B2 | Ovarioleukodystrophy |
| EIF2B4 | Ovarioleukodystrophy |
| EIF2B5 | Ovarioleukodystrophy |
| ERCC6 | Premature ovarian failure 11 |
| ESR1 | Estrogen resistance |
| ESR2 | Ovarian dysgenesis 8 |
| F2 | Thrombophilia due to thrombin defect; Pregnancy loss, recurrent, susceptibility to, 2 |
| F5 | Thrombophilia due to activated protein C resistance; Factor V deficiency; Pregnancy loss, recurrent, susceptibility to, 1 |
| FEZF1 | Hypogonadotropic hypogonadism 22, with or without anosmia |
| FGF17 | Hypogonadotropic hypogonadism 20 with or without anosmia |
| FGF8 | Hypogonadotropic hypogonadism 6 with or without anosmia |
| FGFR1 | Hypogonadotropic hypogonadism 2 with or without anosmia |
| FIGLA | Premature ovarian failure 6 |
| FLRT3 | Hypogonadotropic hypogonadism 21 with anosmia |
| FMR1 | Premature ovarian failure 1 |
| FOXE1 | Bamforth-Lazarus syndrome |
| FOXL2 | Premature ovarian failure 3 |
| FSHB | Hypogonadotropic hypogonadism 24 without anosmia |
| FSHR | Ovarian dysgenesis 1; Ovarian hyperstimulation syndrome; Ovarian response to FSH stimulation |
| GCM2 | Hyperparathyroidism 4; Hypoparathyroidism, familial isolated |
| GDF9 | Premature ovarian failure 14 |
| GHR | Growth hormone insensitivity, partial; Laron dwarfism |
| GLIS3 | Diabetes mellitus, neonatal, with congenital hypothyroidism |
| GNAS | McCune-Albright syndrome; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism Ia; Pseudohypoparathyroidism Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism; Osseous heteroplasia, progressive |
| GNRH1 | Hypogonadotropic hypogonadism 12 with or without anosmia |
| GNRHR | Hypogonadotropic hypogonadism 7 without anosmia |
| HARS2 | Perrault syndrome 2 |
| HESX1 | Growth hormone deficiency with pituitary anomalies |
| HFM1 | Premature ovarian failure 9 |
| HSD17B4 | Perrault syndrome 1 |
| HS6ST1 | Hypogonadotropic hypogonadism 15 with or without anosmia |
| IGSF1 | Hypothyroidism, central, and testicular enlargement |
| IL17RD | Hypogonadotropic hypogonadism 18 with or without anosmia |
| IRS4 | Hypothyroidism, congenital, nongoitrous, 9 |
| IYD | Thyroid dyshormonogenesis 4 |
| KISS1 | Hypogonadotropic hypogonadism 13 with or without anosmia |
| KISS1R | Hypogonadotropic hypogonadism 8 with or without anosmia; Precocious puberty, central, 1 |
| LARS2 | Perrault syndrome 4 |
| LHCGR | Leydig cell hypoplasia with hypergonadotropic hypogonadism |
| LHB | Isolated lutropin deficiency |
| LHX3 | Pituitary hormone deficiency, combined, 3 |
| LHX4 | Pituitary hormone deficiency, combined, 4 |
| MCM8 | Premature ovarian failure 10 |
| MCM9 | Ovarian dysgenesis 4 |
| MSH5 | Premature ovarian failure 13 |
| MRPS22 | Ovarian dysgenesis 7 |
| MTHFR | Homocystinuria due to MTHFR deficiency |
| NKX2-1 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
| NKX2-5 | Hypothyroidism, congenital nongoitrous, 5 |
| NOBOX | Premature ovarian failure 5 |
| NR0B1 | Adrenal hypoplasia, congenital; 46XY sex reversal 2, dosage-sensitive |
| NR5A1 | Premature ovarian failure 7; 46, XX sex reversal 4; 46XY sex reversal 3 |
| NSMF | Hypogonadotropic hypogonadism 9 with or without anosmia |
| NUP107 | Ovarian dysgenesis 6; Nephrotic syndrome, type 11; Galloway-Mowat syndrome 7 |
| OTX2 | Pituitary hormone deficiency, combined, 6; Retinal dystrophy, early-onset, with or without pituitary dysfunction |
| PADI6 | Preimplantation embryonic lethality 2 |
| PATL2 | Oocyte maturation defect 4 |
| PAX8 | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
| PDE3A | Hypertension and brachydactyly syndrome |
| POLR3B | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism |
| POU1F1 | Pituitary hormone deficiency, combined, 1 |
| PROC | Thrombophilia due to protein C deficiency, autosomal dominant; Thrombophilia due to protein C deficiency, autosomal recessive |
| PROK2 | Hypogonadotropic hypogonadism 4 with or without anosmia |
| PROKR2 | Hypogonadotropic hypogonadism 3 with or without anosmia |
| PROP1 | Pituitary hormone deficiency, combined, 2 |
| PROS1 | Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive |
| PSMC3IP | Ovarian dysgenesis 3 |
| SECISBP2 | Thyroid hormone metabolism, abnormal |
| SEMA3A | Hypogonadotropic hypogonadism 16 with or without anosmia |
| SERPINC1 | Thrombophilia due to antithrombin III deficiency |
| SERPINE1 | Plasminogen activator inhibitor-1 deficiency |
| SLC26A4 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; Pendred syndrome |
| SLC5A5 | Thyroid dyshormonogenesis 1 |
| SOHLH1 | Ovarian dysgenesis 5 |
| SOX10 | PCWH syndrome; Waardenburg syndrome, type 2E, with or without neurologic involvement; Waardenburg syndrome, type 4C |
| SOX2 | Microphthalmia, syndromic 3 |
| SOX3 | Mental retardation, X-linked, with isolated growth hormone deficiency; Panhypopituitarism, X-linked |
| SPRY4 | Hypogonadotropic hypogonadism 17 with or without anosmia |
| SRA1 | Hypogonadism with anosmia |
| STAG3 | Premature ovarian failure 8 |
| SYCE1 | Premature ovarian failure 12 |
| SYCP3 | Pregnancy loss, recurrent, 4 |
| TAC3 | Hypogonadotropic hypogonadism 10 with or without anosmia |
| TACR3 | Hypogonadotropic hypogonadism 11 with or without anosmia |
| TBL1X | Hypothyroidism, congenital, nongoitrous, 8 |
| TG | Thyroid dyshormonogenesis 3 |
| THBD | Thrombophilia due to thrombomodulin defect |
| THRA | Hypothyroidism, congenital, nongoitrous, 6 |
| THRB | Thyroid hormone resistance; Thyroid hormone resistance, autosomal recessive; Thyroid hormone resistance, selective pituitary |
| TPO | Thyroid dyshormonogenesis 2A |
| TRH | Thyrotropin-releasing hormone deficiency |
| TRHR | Hypothyroidism, congenital, nongoitrous, 7 |
| TSHB | Hypothyroidism, congenital, nongoitrous 4 |
| TSHR | Hyperthyroidism, familial gestational; Hypothyroidism, congenital, nongoitrous, 1 |
| TUBB8 | Oocyte maturation defect 2 |
| WDR11 | Hypogonadotropic hypogonadism 14 with or without anosmia |
| WEE2 | Oocyte maturation defect 5 |
| WNT4 | Mullerian aplasia and hyperandrogenism; SERKAL syndrome |
| WT1 | Frasier syndrome; Denys-Drash syndrome; Meacham syndrome |
| ZP1 | Oocyte maturation defect 1 |
| ZP2 | Oocyte maturation defect 6 |
| ZP3 | Oocyte maturation defect 3 |