List of diseases covered by Male Factor Infertility NGS panel

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

Asper Biotech at the ESHG 2014

Asper Biotech will present their recently launched tests for diagnostics of male factor infertility and celiac disease at the European Human Genetics Conference in Milan, 31 May-3 June. Step in, learn more about the tests and get acquainted with our experienced staff at the MiCo exhibition hall, booth no 242!

Asper Biotech launches Male Factor Infertility Test

Male Factor Infertility Test combines APEX assay and PCR-based testing to detect the most prevalent genetic factors causing male infertility, such as Klinefelter syndrome; AZF-microdeletions; mutations in the CFTR gene; genes involved in folate metabolism; cryptorchidism, hypogonadism and spermatogenic failure linked genes as well as polymorphisms in the androgen receptor gene.

Simultaneous testing of hundreds of genetic markers implicated in male infertility provides insight into the causes of infertility and gives valuable knowledge for treatment planning.

For more information please view