List of diseases covered by
Male Factor Infertility NGS panel
| Gene | Condition |
| AK7 | Spermatogenic failure 27 |
| ADGRG2 | Congenital bilateral absence of vas deferens, X-linked |
| AMH | Persistent Mullerian duct syndrome, type I |
| AMHR2 | Persistent Mullerian duct syndrome, type II |
| ANOS1 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) |
| AR | Androgen insensitivity; Androgen insensitivity, partial, with or without breast cancer; Hypospadias 1, X-linked; Spinal and bulbar muscular atrophy of Kennedy; Prostate cancer, susceptibility to |
| ARMC2 | Spermatogenic failure 38 |
| AURKC | Spermatogenic failure 5 |
| BMP4 | Microphthalmia, syndromic 6; Orofacial cleft 11 |
| BNC2 | Lower urinary tract obstruction, congenital |
| BRDT | Spermatogenic failure 21 |
| CASR | Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant; Hypocalciuric hypercalcemia, type I |
| CATSPER1 | Spermatogenic failure 7 |
| CCDC39 | Ciliary dyskinesia, primary, 14 |
| CYP17A1 | 17-alpha-hydroxylase/17,20-lyase deficiency |
| CYP11B1 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; Aldosteronism, glucocorticoid-remediable |
| CFAP43 | Spermatogenic failure 19 |
| CFAP44 | Spermatogenic failure 20 |
| CFAP69 | Spermatogenic failure 24 |
| CFTR | Congenital bilateral absence of vas deferens; Cystic fibrosis |
| DNAH1 | Spermatogenic failure 18 |
| DNAH11 | Ciliary dyskinesia, primary, 7, with or without situs inversus |
| DNAH5 | Ciliary dyskinesia, primary, 3, with or without situs inversus |
| DNAH6 | Abnormal spermatogenesis |
| DNAI1 | Ciliary dyskinesia, primary, 1, with or without situs inversus |
| DPY19L2 | Spermatogenic failure 9 |
| DUOX2 | Thyroid dyshormonogenesis 6 |
| DUOXA2 | Thyroid dyshormonogenesis 5 |
| FANCM | Spermatogenic failure 28 |
| 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 |
| FLRT3 | Hypogonadotropic hypogonadism 21 with anosmia |
| FOXE1 | Bamforth-Lazarus syndrome |
| FSHB | Hypogonadotropic hypogonadism 24 without anosmia |
| FSIP2 | Spermatogenic failure 34 |
| GCM2 | Hyperparathyroidism 4; Hypoparathyroidism, familial isolated |
| 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 |
| HESX1 | Growth hormone deficiency with pituitary anomalies |
| HSD3B2 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency |
| HS6ST1 | Hypogonadotropic hypogonadism 15 with or without anosmia |
| IGSF1 | Hypothyroidism, central, and testicular enlargement |
| IL17RD | Hypogonadotropic hypogonadism 18 with or without anosmia |
| INSL3 | Cryptorchidism |
| IRS4 | Hypothyroidism, congenital, nongoitrous, 9 |
| IYD | Thyroid dyshormonogenesis 4 |
| KISS1R | Hypogonadotropic hypogonadism 8 with or without anosmia; Precocious puberty, central, 1 |
| KLHL10 | Spermatogenic failure 11 |
| LHB | Isolated lutropin deficiency |
| LHX3 | Pituitary hormone deficiency, combined, 3 |
| LHX4 | Pituitary hormone deficiency, combined, 4 |
| MAMLD1 | Hypospadias 2, X-linked |
| M1AP | Spermatogenesis maturation arrest; Non-obstructive azoospermia |
| MEI1 | Hydatidiform mole, recurrent, 3 |
| LRRC6 | Ciliary dyskinesia, primary, 19 |
| MEI1 | Hydatidiform mole, recurrent, 3 |
| MEIOB | Spermatogenic failure 22 |
| NANOS1 | Spermatogenic failure 12 |
| NKX2-1 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
| NKX2-5 | Hypothyroidism, congenital nongoitrous, 5 |
| NR5A1 | Spermatogenic failure 8; Adrenocortical insufficiency; 46XY sex reversal 3; 46, XX sex reversal 4 |
| NR0B1 | Adrenal hypoplasia, congenital; 46XY sex reversal 2, dosage-sensitive |
| NSMF | Hypogonadotropic hypogonadism 9 with or without anosmia |
| OTX2 | Pituitary hormone deficiency, combined, 6; Retinal dystrophy, early-onset, with or without pituitary dysfunction |
| PANK2 | HARP syndrome; Neurodegeneration with brain iron accumulation 1 |
| PAX8 | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
| PDE3A | Hypertension and brachydactyly syndrome |
| PLCZ1 | Spermatogenic failure 17 |
| PMFBP1 | Spermatogenic failure 31 |
| POU1F1 | Pituitary hormone deficiency, combined, 1 |
| PPP2R3C | Spermatogenic failure 36; Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
| PROK2 | Hypogonadotropic hypogonadism 4 with or without anosmia |
| PROKR2 | Hypogonadotropic hypogonadism 3 with or without anosmia |
| PROP1 | Pituitary hormone deficiency, combined, 2 |
| QRICH2 | Spermatogenic failure 35 |
| RNF212 | Recombination rate QTL 1 |
| RSPO1 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal |
| SECISBP2 | Thyroid hormone metabolism, abnormal |
| SEMA3A | Hypogonadotropic hypogonadism 16 with or without anosmia |
| SEPTIN12 | Spermatogenic failure 10 |
| SLC26A4 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; Pendred syndrome |
| SLC26A8 | Spermatogenic failure 3 |
| SLC5A5 | Thyroid dyshormonogenesis 1 |
| SLC9A3 | Diarrhea 8, secretory sodium, congenital |
| SOHLH1 | Spermatogenic failure 32 |
| 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 |
| SOX9 | Campomelic dysplasia with autosomal sex reversal |
| SPATA16 | Spermatogenic failure 6 |
| SPINK2 | Spermatogenic failure 29 |
| SRA1 | Hypogonadism with anosmia |
| SRD5A2 | Pseudovaginal perineoscrotal hypospadias |
| STAG3 | Non-obstructive azoospermia; Spermatogenesis maturation arrest |
| SUN5 | Spermatogenic failure 16 |
| SYCE1 | Spermatogenic failure 15 |
| SYCP3 | Spermatogenic failure 4 |
| TAC3 | Hypogonadotropic hypogonadism 10 with or without anosmia |
| TACR3 | Hypogonadotropic hypogonadism 11 with or without anosmia |
| TAF4B | Spermatogenic failure 13 |
| TBL1X | Hypothyroidism, congenital, nongoitrous, 8 |
| TDRD9 | Spermatogenic failure 30 |
| TEX11 | Spermatogenic failure, X-linked, 2 |
| TEX14 | Spermatogenic failure 23 |
| TEX15 | Spermatogenic failure 25 |
| TG | Thyroid dyshormonogenesis 3 |
| 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 |
| TRIM37 | Mulibrey nanism |
| TSGA10 | Spermatogenic failure 26 |
| TSHB | Hypothyroidism, congenital, nongoitrous 4 |
| TSHR | Hyperthyroidism, familial gestational; Hypothyroidism, congenital, nongoitrous, 1 |
| TTC21A | Spermatogenic failure 37 |
| USP9Y | Spermatogenic failure, Y-linked, 2 |
| UTP14C | Congenital disorder of glycosylation |
| WDR11 | Hypogonadotropic hypogonadism 14 with or without anosmia |
| WDR66 | Spermatogenic failure 33 |
| XRCC2 | Fanconi anemia, complementation group U |
| ZMYND15 | Spermatogenic failure 14 |