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Male Infertility Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
4511 ACTL9 81479,81479 Order Options and Pricing
ADGRG2 81479,81479
AIRE 81406,81479
AKR1C4 81479,81479
AMH 81479,81479
AMHR2 81479,81479
ANOS1 81406,81479
AR 81173,81479
ARL6 81479,81479
ARMC2 81479,81479
ARX 81404,81403
ATRX 81479,81479
AURKC 81479,81479
AXL 81479,81479
BBS1 81406,81479
BBS10 81404,81479
BBS12 81479,81479
BBS2 81406,81479
BBS4 81479,81479
BBS5 81479,81479
BBS7 81479,81479
BBS9 81479,81479
BRDT 81479,81479
C14orf39 81479,81479
CATSPER1 81479,81479
CBX2 81479,81479
CCDC141 81479,81479
CEP112 81479,81479
CFAP251 81479,81479
CFAP43 81479,81479
CFAP44 81479,81479
CFAP47 81479,81479
CFAP58 81479,81479
CFAP65 81479,81479
CFAP69 81479,81479
CFAP70 81479,81479
CFAP91 81479,81479
CFTR 81223,81479
CHD7 81407,81479
CYP11A1 81479,81479
CYP17A1 81405,81479
CYP19A1 81479,81479
DHH 81479,81479
DMRT1 81479,81479
DMRT2 81479,81479
DNAH1 81479,81479
DNAH10 81479,81479
DNAH17 81479,81479
DNAH2 81479,81479
DNAH6 81479,81479
DNAH8 81479,81479
DPY19L2 81479,81479
DUSP6 81479,81479
DZIP1 81479,81479
FANCM 81479,81479
FEZF1 81479,81479
FGF17 81479,81479
FGF8 81479,81479
FGFR1 81405,81479
FGFR2 81479,81479
FLRT3 81479,81479
FOXL2 81479,81479
FSHB 81479,81479
FSIP2 81479,81479
GALNTL5 81479,81479
GATA4 81479,81479
GNRH1 81479,81479
GNRHR 81479,81479
HESX1 81479,81479
HFE 81479,81479
HS6ST1 81479,81479
HSD17B3 81479,81479
IL17RD 81479,81479
INSL3 81479,81479
KISS1 81479,81479
KISS1R 81479,81479
KLHL10 81479,81479
LEP 81479,81479
LEPR 81406,81479
LHB 81479,81479
LHCGR 81406,81479
LHX3 81479,81479
LHX4 81479,81479
M1AP 81479,81479
MAMLD1 81479,81479
MAP3K1 81479,81479
MKKS 81479,81479
NANOS1 81479,81479
NPAS2 81479,81479
NR0B1 81404,81479
NR5A1 81479,81479
NSMF 81479,81479
PCSK1 81479,81479
PICK1 81479,81479
PLCZ1 81479,81479
PMFBP1 81479,81479
PNLDC1 81479,81479
POR 81479,81479
PPP2R3C 81479,81479
PROK2 81479,81479
PROKR2 81479,81479
PROP1 81404,81479
QRICH2 81479,81479
RSPO1 81479,81479
SEMA3A 81479,81479
SEMA3E 81479,81479
SEPTIN12 81479,81479
SLC26A8 81479,81479
SOHLH1 81479,81479
SOX10 81479,81479
SOX2 81479,81479
SOX3 81479,81479
SOX9 81479,81479
SPATA16 81479,81479
SPEF2 81479,81479
SPRY4 81479,81479
SRA1 81479,81479
SRD5A2 81479,81479
SRY 81400,81479
STAR 81479,81479
SUN5 81479,81479
SYCE1 81479,81479
SYCP2 81479,81479
SYCP3 81479,81479
TAC3 81479,81479
TACR3 81479,81479
TAF4B 81479,81479
TEX11 81479,81479
TEX14 81479,81479
TEX15 81479,81479
TRIM32 81479,81479
TTC21A 81479,81479
TTC29 81479,81479
TTC8 81479,81479
WDR11 81479,81479
WNT4 81479,81479
WT1 81405,81479
WWOX 81479,81479
ZMYND15 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
4511Genes x (139)81479 81173(x1), 81223(x1), 81400(x1), 81403(x1), 81404(x4), 81405(x3), 81406(x6), 81407(x1), 81479(x260) $1240 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Infertility is a disorder of the reproductive system defined by the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse. It affects 10-20% of couples worldwide, with male factor infertility accounting for about half of the cases.

In humans, sexual development and reproductive function occur by the actions of the hypothalamin-pituitary-gonadal axis induced by gonadotropin releasing hormone (GnRH). Aberrations in this axis can lead to pubertal and reproductive deficiencies. Diagnoses of infertility include hypogonadotropic hypogonadism, hypergonadotropic hypogonadism, and obstructive disorders (Layman. 2002. PubMed ID: 11897813). Male patients with hypogonadotropic hypogonadism often present a prepubertal testicular volume of less than 4 ml, absence of secondary sexual features (facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido and erectile dysfunction due to low serum gonadotropin, follicle stimulating hormone (FSH), and luteinizing hormone (LH; Balasubramanian et al. 2017. PubMed ID: 20301509). Hypergonadotropic hypogonadism in male patients is usually caused by testicular dysfunction (oligospermia, azoospermia, or other abnormalities of sperm morphology or motility).

Genetics

Infertility is a multifactorial complex condition with highly heterogeneous phenotypic representation. Genetic abnormalities, including both chromosomal and single gene alterations, can account for 15-30% of male factor infertility (Hotaling. 2014. PubMed ID: 24286764). Genetic causes can be detected in all major etiologic categories of male infertility (pre-testicular, testicular, and post-testicular forms). Genes and genomic regulation involved in male sexual development (SRY), testicular development (GATA4, NR5A1, NR0B1, WT1, DAX1, SOX9, ARX, ATRX), male genital tract development (AMH, AMHR1, AR, BMP4), and spermatogenesis (AURKC, SPATA16, DAZ, CFTR) have all been associated with male infertility (Miyamoto. 2015. PubMed ID: 26178295). Autosomal dominant, autosomal recessive, and X linked inheritance have been observed in male infertility genes.

Y chromosome microdeletion is the most common genetic cause of male infertility. For this reason, genetic testing to detect Y chromosome microdeleletions is strongly recommended in the case of a male patient with infertility. Please see our Y chromosome deletion analysis (test code 3740) if testing is desired. Sex chromosome aneuploidy, structural abnormality, and copy number variants (CNVs) are also common genetic causes of male infertility, and our CNV analysis enables these large cytogenetic abnormalities as well as some exon-level CNVs to be identified from NGS data.

See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants. 

Clinical Sensitivity - Sequencing with CNV PGxome

This multi-gene panel analyzes genes involved in both syndromic and non-syndromic male infertility (Baxter. 2015. PubMed ID: 25383892). The detection rate of this NGS panel in a large cohort of infertile male patients is unavailable in the literature. However, in patients with hypogonadotropic hypogonadism, 40-50% of patients have pathogenic variants in 28 genes in this panel.

At this time, the clinical sensitivity of Copy Number Variant (CNV) testing is difficult to estimate due to the lack of large cohort studies. So far, CNVs have been reported in SOX3, LHCGR, SRY, NR0B1, DMRT1, NR5A1, GATA4, WT1, WNT4, and FGFR2.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.1% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

This test is recommended for men with genetic infertility.

Genes

Official Gene Symbol OMIM ID
ACTL9 0
ADGRG2 300572
AIRE 607358
AKR1C4 600451
AMH 600957
AMHR2 600956
ANOS1 300836
AR 313700
ARL6 608845
ARMC2 0
ARX 300382
ATRX 300032
AURKC 603495
AXL 109135
BBS1 209901
BBS10 610148
BBS12 610683
BBS2 606151
BBS4 600374
BBS5 603650
BBS7 607590
BBS9 607968
BRDT 602144
C14orf39 0
CATSPER1 606389
CBX2 602770
CCDC141 616031
CEP112 0
CFAP251 618146
CFAP43 617558
CFAP44 617559
CFAP47 0
CFAP58 0
CFAP65 614270
CFAP69 617949
CFAP70 618661
CFAP91 609910
CFTR 602421
CHD7 608892
CYP11A1 118485
CYP17A1 609300
CYP19A1 107910
DHH 605423
DMRT1 602424
DMRT2 604935
DNAH1 603332
DNAH10 605884
DNAH17 610063
DNAH2 603333
DNAH6 603336
DNAH8 603337
DPY19L2 613893
DUSP6 602748
DZIP1 608671
FANCM 609644
FEZF1 613301
FGF17 603725
FGF8 600483
FGFR1 136350
FGFR2 176943
FLRT3 604808
FOXL2 605597
FSHB 136530
FSIP2 0
GALNTL5 615133
GATA4 600576
GNRH1 152760
GNRHR 138850
HESX1 601802
HFE 613609
HS6ST1 604846
HSD17B3 605573
IL17RD 606807
INSL3 146738
KISS1 603286
KISS1R 604161
KLHL10 608778
LEP 164160
LEPR 601007
LHB 152780
LHCGR 152790
LHX3 600577
LHX4 602146
M1AP 0
MAMLD1 300120
MAP3K1 600982
MKKS 604896
NANOS1 608226
NPAS2 603347
NR0B1 300473
NR5A1 184757
NSMF 608137
PCSK1 162150
PICK1 605926
PLCZ1 608075
PMFBP1 0
PNLDC1 0
POR 124015
PPP2R3C 0
PROK2 607002
PROKR2 607123
PROP1 601538
QRICH2 0
RSPO1 609595
SEMA3A 603961
SEMA3E 608166
SEPTIN12 611562
SLC26A8 608480
SOHLH1 610224
SOX10 602229
SOX2 184429
SOX3 313430
SOX9 608160
SPATA16 609856
SPEF2 610172
SPRY4 607984
SRA1 603819
SRD5A2 607306
SRY 480000
STAR 600617
SUN5 613942
SYCE1 611486
SYCP2 604105
SYCP3 604759
TAC3 162330
TACR3 162332
TAF4B 601689
TEX11 300311
TEX14 605792
TEX15 605795
TRIM32 602290
TTC21A 611430
TTC29 0
TTC8 608132
WDR11 606417
WNT4 603490
WT1 607102
WWOX 605131
ZMYND15 614312
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency AD 264600
46,XX Sex Reversal, Type 1 AR 400045
46,XY Sex Reversal 8 AR 614279
46,XY Sex Reversal, Type 5 AD 613080
46,XY Sex Reversal, Type 6 AD 613762
46,XY Sex Reversal, Type 7 AR 233420
Adrenal Insufficiency, Congenital, With 46,XY Sex Reversal, Partial Or Complete AR 613743
Androgen Resistance Syndrome XL 300068
Antley-Bixler Syndrome AR 207410
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis AR 201750
ATR-X Syndrome XL 301040
Bardet-Biedl Syndrome 1 AR 209900
Bardet-Biedl Syndrome 10 AR 615987
Bardet-Biedl Syndrome 11 AR 615988
Bardet-Biedl Syndrome 12 AR 615989
Bardet-Biedl Syndrome 2 AR 615981
Bardet-Biedl Syndrome 3 AR 600151
Bardet-Biedl Syndrome 4 AR 615982
Bardet-Biedl Syndrome 5 AR 615983
Bardet-Biedl Syndrome 6 AR 605231
Bardet-Biedl Syndrome 7 AR 615984
Bardet-Biedl Syndrome 8 AR 615985
Bardet-Biedl Syndrome 9 AR 615986
Blepharophimosis, Ptosis, And Epicanthus Inversus AR 110100
Camptomelic Dysplasia AD 114290
CATSPER-Related Male Infertility AR 612997
CHARGE Association AD 214800
Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency AR 201710
Congenital Bilateral Absence Of The Vas Deferens AR 277180
Cryptorchidism, Unilateral Or Bilateral AD 219050
Cystic Fibrosis AR 219700
Deficiency Of Steroid 17-Alpha-Monooxygenase AD,AR 202110
Familial Gynecomastia, Due To Increased Aromatase Activity AR 139300
Follicle-Stimulating Hormone Deficiency, Isolated XL 229070
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy AR 618419
Gonadotropin-Independent Familial Sexual Precocity AR 176410
Hemochromatosis Type 1 AR 235200
Hypogonadotropic Hypogonadism 10 with or without Anosmia AR 614839
Hypogonadotropic Hypogonadism 11 with or without Anosmia AR 614840
Hypogonadotropic Hypogonadism 12 with or without Anosmia AR 614841
Hypogonadotropic Hypogonadism 13 with or without Anosmia AR 614842
Hypogonadotropic Hypogonadism 14 with or without Anosmia AD 614858
Hypogonadotropic Hypogonadism 15 with or without Anosmia AD 614880
Hypogonadotropic Hypogonadism 16 with or without Anosmia AD 614897
Hypogonadotropic Hypogonadism 17 with or without Anosmia AD 615266
Hypogonadotropic Hypogonadism 18 with or without Anosmia AD, AR 615267
Hypogonadotropic Hypogonadism 19 with or without Anosmia AD 615269
Hypogonadotropic Hypogonadism 20 with or without Anosmia AD 615270
Hypogonadotropic Hypogonadism 21 with Anosmia AD 615271
Hypogonadotropic Hypogonadism 22, with or without Anosmia AR 616030
Hypogonadotropic Hypogonadism 7 with or without Anosmia AR 146110
Hypogonadotropic Hypogonadism 8 with or without Anosmia AR 614837
Hypogonadotropic Hypogonadism 9 with or without Anosmia AD 614838
Hypospadias 2, X-Linked XL 300758
Infertility Associated With Multi-Tailed Spermatozoa And Excessive DNA AR 243060
Isolated Lutropin Deficiency AR 228300
Isolated X-Linked Adrenal Hypoplasia Congenita AR 300200
Kallmann Syndrome 1 XL 308700
Kallmann Syndrome 2 AD 147950
Kallmann Syndrome 3 AD 244200
Kallmann Syndrome 4 AD 610628
Kallmann Syndrome 5 AD 612370
Kallmann Syndrome 6 AD 612702
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 XL 309580
Microphthalmia Syndromic 3 AR 206900
Mullerian Aplasia And Hyperandrogenism AD 158330
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,XX Sex Reversal AR 610644
Panhypopituitarism X-Linked AD 312000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease AD 609136
Persistent Mullerian Duct Syndrome AR 261550
Pituitary Hormone Deficiency, Combined 2 AR 262600
Pituitary Hormone Deficiency, Combined 3 AR 221750
Pituitary Hormone Deficiency, Combined 4 AD,AR 262700
Polyglandular Autoimmune Syndrome, Type 1 AD 240300
Premature ovarian failure 15 AR 618096
Proprotein Convertase 1/3 Deficiency AR 600955
Septooptic Dysplasia AR 182230
Spermatogenic failure 1 AR 258150
Spermatogenic Failure 10 AD 614822
Spermatogenic Failure 11 AD 615081
Spermatogenic Failure 12 AD 615413
Spermatogenic Failure 13 AR 615841
Spermatogenic Failure 14 AR 615842
Spermatogenic Failure 15 AR 616950
Spermatogenic Failure 16 AR 617187
Spermatogenic Failure 17 AR 617214
Spermatogenic Failure 19 AR 617592
Spermatogenic Failure 2 AR 309120
Spermatogenic Failure 20 AR 617593
Spermatogenic Failure 21 AR 617644
Spermatogenic failure 23 AR 617707
Spermatogenic failure 24 AR 617959
Spermatogenic failure 25 AR 617960
Spermatogenic failure 28 AR 618086
Spermatogenic Failure 3 XL 606766
Spermatogenic failure 31 AR 618112
Spermatogenic failure 32 AD 618115
Spermatogenic failure 33 AR 618152
Spermatogenic failure 34 AR 618153
Spermatogenic failure 35 AR 618341
Spermatogenic failure 36 AD 618420
Spermatogenic failure 37 AR 618429
Spermatogenic failure 38 AR 618433
Spermatogenic failure 39 AR 618643
Spermatogenic Failure 4 AD 270960
Spermatogenic failure 40 AR 618664
Spermatogenic failure 41 AR 618670
Spermatogenic failure 42 AR 618745
Spermatogenic failure 43 AR 618751
Spermatogenic failure 44 AR 619044
Spermatogenic failure 45 AR 619094
Spermatogenic failure 46 AR 619095
Spermatogenic failure 47 AR 619102
Spermatogenic failure 48 AR 619108
Spermatogenic failure 49 AR 619144
Spermatogenic failure 51 AR 619177
Spermatogenic failure 52 AR 619202
Spermatogenic failure 53 619258
Spermatogenic failure 56 AR 619515
Spermatogenic failure 57 AR 619528
Spermatogenic Failure 6 AD 102530
Spermatogenic Failure 8 XL 613957
Spermatogenic Failure 9 AR 613958
Spermatogenic failure, X-linked, 3 XL 301059
Testicular Anomalies with or without Congenital Heart Disease AD 615542
Testosterone 17-Beta-Dehydrogenase Deficiency AR 264300
Vas Deferens, Congenital Bilateral Aplasia of, X-linked XL 300985
Wilms' Tumor AD 194070
X-Linked Lissencephaly 2 AR 300215

Related Test

Name
PGxome®

Citations

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
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Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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1) Select Test Method (Backbone)


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2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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