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