The clinical utility of this panel is:
| GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
| BTG4 | Zygotic Cleavage Failure, Female Infertility |
92.22% |
NA of NA | |
| C1QC | C1q Deficiency |
AR |
100% |
11 of 11 |
| CATSPER1 | Spermatogenic Failure |
AR |
99.97% |
4 of 4 |
| CD46 | HELLP Syndrome, Hemolytic Uremic Syndrome |
AD,AR |
100% |
83 of 84 |
| CNOT6L | Embryo Developmental Arrest |
– |
98.92% |
NA of NA |
| DMC1 | Infertility | – |
100% |
2 of 2 |
| DNAH1 | Primary Ciliary Dyskinesia, Spermatogenic Failure |
AR |
100% |
58 of 58 |
| DNAH5 | Primary Ciliary Dyskinesia With Or Without Situs Inversus |
AR |
100% |
277 of 278 |
| DPY19L2 | Spermatogenic Failure |
AR |
97.65% |
16 of 20 |
| EED | Cohen-Gibson Syndrome, Weaver Syndrome |
AD |
99.92% |
10 of 10 |
| GALNTL5 | Primary Infertility Due to Asthenozoospermia |
99.95% |
2 of 2 | |
| KHDC3L | Recurrent Hydatidiform Mole, Recurrent |
AR |
100% |
7 of 7 |
| KLHL10 | Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure |
AD |
99.98% |
5 of 5 |
| NANOG | Teratocarcinoma, Germ Cell and Embryonal Cancer |
97.74% |
NA of NA | |
| NANOS1 | Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Male Infertility With Teratozoospermia Due To Single Gene Mutation, Spermatogenic Failure |
AD |
75.55% |
2 of 3 |
| NR5A1 | 46XX Gonadal Dysgenesis, 46XX Ovotesticular Disorder Of Sex Development, 46XX Sex Reversal, 46XX Testicular Disorder Of Sex Development, 46XY Complete Gonadal Dysgenesis, Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Premature Ovarian Failure, Spermatogenic Failure |
AD |
99.97% |
222 of 224 |
| PADI6 | Preimplantation Embryonic Lethality |
AR |
NA |
NA |
| PICK1 | Spermatogenic Failure, Depression |
100% |
1 of 1 | |
| PLCZ1 | Spermatogenic Failure |
AR |
99.78% |
8 of 8 |
| POU5F1 | Embryonal Carcinoma, Teratoma |
100% |
1 of 1 | |
| SEPTIN12 | Spermatogenic Failure |
AD |
99.84% |
5 of 5 |
| SLC26A8 | Spermatogenic Failure |
AD |
98.81% |
5 of 5 |
| SPATA16 | Spermatogenic Failure |
AR |
99.94% |
1 of 2 |
| SPP1 | Pediatric Systemic Lupus Erythematosus |
99.77% |
2 of 2 | |
| STAT3 | Acute Promyelocytic Leukemia, Infantile-Onset Autoimmune Disease, Hyper-IgE Syndrome, Permanent Neonatal Diabetes Mellitus |
AD |
100% |
171 of 171 |
| STK11 | Pancreatic Cancer, Peutz-Jeghers Syndrome, Testicular Tumor |
AD |
81.99% |
456 of 470 |
| SUN5 | Male Infertility Due To Acephalic Spermatozoa, Spermatogenic Failure |
AR |
100% |
14 of 14 |
| SYCE1 | Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Premature Ovarian Failure, Spermatogenic Failure |
AR |
100% |
2 of 3 |
| TAF4B | Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure |
AR |
97.92% |
0 of 1 |
| TERT | Aplastic Anemia, Dyskeratosis Congenita, Familial Melanoma, Hoyeraal-Hreidarsson Syndrome, Idiopathic Aplastic Anemia, Idiopathic Pulmonary Fibrosis, Acute Myeloid Leukemia, Cutaneous Malignant Melanoma, Meningioma, Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-related, Pulmonary Fibrosis |
AD,AR |
99.09% |
194 of 197 |
| TEX11 | Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, X-linked Spermatogenic Failure |
X,XR,G |
96.52% |
NA of NA |
| TEX15 | Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure |
AR |
99.16% |
6 of 7 |
| TLE6 | Preimplantation Embryonic Lethality |
AR |
100% |
2 of 2 |
| TUBB8 | Oocyte Maturation Defect |
AD,AR |
99.81% |
47 of 47 |
| VSIG4 | T-cell/Histiocyte Rich Large B Cell Lymphoma, Complement Component 3 Deficiency, Hemolytic Uremic Syndrome |
– |
99.80% |
NA of NA |
| ZFP42 | Spermatocytoma, Germ Cell and Embryonal Cancer |
– |
99.98% |
NA of NA |
| ZP1 | Oocyte Maturation Defect |
AR |
100% |
17 of 17 |
| ZPBP | Spermatogenic Failure |
99.98% |
4 of 4 |
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial
** HGMD: Number of clinically relevant mutations according to HGMD
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