Female Infertility Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
4513 AIRE 81406,81479 Order Options and Pricing
AKR1C4 81479,81479
ANOS1 81406,81479
AR 81173,81479
ARL6 81479,81479
ARX 81404,81403
ATRX 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
BMP15 81479,81479
CBX2 81479,81479
CCDC141 81479,81479
CHD7 81407,81479
CLPP 81479,81479
CYP11A1 81479,81479
CYP17A1 81405,81479
CYP19A1 81479,81479
DHH 81479,81479
DMRT1 81479,81479
DMRT2 81479,81479
DUSP6 81479,81479
EIF2B1 81479,81479
EIF2B2 81405,81479
EIF2B3 81406,81479
EIF2B4 81406,81479
EIF2B5 81406,81479
FEZF1 81479,81479
FGF17 81479,81479
FGF8 81479,81479
FGFR1 81405,81479
FGFR2 81479,81479
FIGLA 81479,81479
FLRT3 81479,81479
FOXL2 81479,81479
FSHB 81479,81479
FSHR 81479,81479
GALT 81406,81479
GNRH1 81479,81479
GNRHR 81479,81479
HESX1 81479,81479
HFE 81479,81479
HFM1 81479,81479
HOXA13 81479,81479
HS6ST1 81479,81479
HSD17B3 81479,81479
IL17RD 81479,81479
KISS1 81479,81479
KISS1R 81479,81479
LEP 81479,81479
LEPR 81406,81479
LHB 81479,81479
LHCGR 81406,81479
LHX3 81479,81479
LHX4 81479,81479
LMNA 81406,81479
MAMLD1 81479,81479
MAP3K1 81479,81479
MCM8 81479,81479
MCM9 81479,81479
MKKS 81479,81479
NOBOX 81479,81479
NR0B1 81404,81479
NR3C1 81479,81479
NR5A1 81479,81479
NSMF 81479,81479
NUP107 81479,81479
PADI6 81479,81479
PCSK1 81479,81479
POR 81479,81479
PRLR 81479,81479
PROK2 81479,81479
PROKR2 81479,81479
PROP1 81404,81479
PSMC3IP 81479,81479
RSPO1 81479,81479
SEMA3A 81479,81479
SEMA3E 81479,81479
SOHLH1 81479,81479
SOX10 81479,81479
SOX2 81479,81479
SOX3 81479,81479
SOX9 81479,81479
SPRY4 81479,81479
SRA1 81479,81479
SRD5A2 81479,81479
SRY 81400,81479
STAG3 81479,81479
STAR 81479,81479
SYCE1 81479,81479
TAC3 81479,81479
TACR3 81479,81479
TRIM32 81479,81479
TTC8 81479,81479
WDR11 81479,81479
WNT4 81479,81479
WT1 81405,81479
WWOX 81479,81479
ZP1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
4513Genes x (105)81479 81173, 81400, 81403, 81404, 81405, 81406, 81407, 81479 $1310 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.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

Targeted Testing

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

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

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 and is generally attributed to males and females equally.

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 hypogonadotrophic hypogonadism, hypergonadotrophic hypogonadism, and obstructive disorders (Layman 2002. PubMed ID: 11897813). Female patients with hypogonadotrophic hypogonadism often present symptoms of estrogen deficiency, such as absent breast development or hypoestrogenic amenorrhea owing to low serum gonadotrophin, follicle stimulating hormone (FSH), and luteinizing hormone (LH); while female patients with hypergonadotrophic hypogonadism manifest symptoms of elevated serum FSH and LH, and ovary defect (primary amenorrhea and premature ovarian failure) (Layman 2013. PubMed ID: 23499866).

Genetics

Infertility is a multifactorial complex condition with highly heterogeneous phenotypic representation. Genetic abnormalities including both chromosomal and single-gene alterations account for 15-30% of cases of infertility (Hotaling 2014. PubMed ID: 24286764). Pathogenic variants in at least 20 genes cause hypogonadotropic hypogonadism including Kallman syndrome in about 40-50% of patients (Balasubramanian et al. 2017. PubMed ID: 20301509). The two most commonly involved genes are FGFR1 and CHD7. When combined pituitary hormone deficiency includes hypogonadotropic hypogonadism as a feature, PROP1 pathogenic variants are the most common of the six genes involved. For hypergonadotropic hypogonadism, pathogenic variants in 14 genes cause gonadal failure in 15% of affected females. In eugonadal disorders, activating FSHR pathogenic variants have been described in mullerian aplasia (Layman 2013. PubMed ID: 23499866). See individual gene test descriptions for information on molecular biology of gene products and mutation spectra.

Sex chromosome aneuploidy, structural abnormality, and Copy Number Variants (CNVs) are common genetic causes of female infertility. For this reason, genetic testing to detect large cytogenetic events and CNVs is recommended in the case of a female patient with infertility. Our CNV analysis enables these large cytogenetic abnormalities as well as some exon level CNVs to be identified from NGS data.

Testing Strategy

This panel typically provides ≥98% 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV PGxome

This multi-gene panel analyzes genes involved in both syndromic and non-syndromic female infertility (Baxter et al. 2015. PubMed ID: 25383892). The detection rate of this NGS panel in a large cohort of female 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. For woman with hypergonadotropic hypogonadism and especially 46,XX ovarian failure, about 15% of women have pathogenic variants in 14 genes in this panel (Layman 2013. PubMed ID: 23499866).

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, gross deletions or duplications have been reported in SOX3, LHCGR, SRY, NR0B1, DMRT1, NR5A1, GATA4, WT1, WNT4, and FGFR2.

Indications for Test

This test is recommended for women with genetic infertility.

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
CHARGE Association AD 214800
Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency AR 201710
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
Galactosemia AR 230400
Glucocorticoid Resistance AD 615962
Gonadotropin-Independent Familial Sexual Precocity AR 176410
Hemochromatosis Type 1 AR 235200
Hyperprolactinemia AD 615555
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
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
Leukoencephalopathy With Vanishing White Matter AR 603896
Malouf Syndrome AD 212112
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 XL 309580
Microphthalmia Syndromic 3 AR 206900
Mullerian Aplasia And Hyperandrogenism AD 158330
Nephrotic Syndrome, Type 11 AR 616730
Obesity, Morbid, Due to Leptin Deficiency AR 614962
Obesity, Morbid, Due to Leptin Receptor Deficiency AR 614963
Oocyte Maturation Defect AR 615774
Ovarian Dysgenesis 1 AR 233300
Ovarian Dysgenesis 2 AD 300510
Ovarian Dysgenesis 3 AR 614324
Ovarian Dysgenesis 4 AR 616185
Ovarian Hyperstimulation Syndrome AR 608115
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
Perrault Syndrome 3 AR 614129
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
Preaxial Deficiency, Postaxial Polydactyly And Hypospadias AD 176305
Preimplantation Embryonic Lethality 2 AR 617234
Premature Ovarian Failure 10 AR 612885
Premature Ovarian Failure 12 AR 616947
Premature Ovarian Failure 3 AD 608996
Premature Ovarian Failure 5 AD 611548
Premature Ovarian Failure 6 AR 612310
Premature Ovarian Failure 7 AD 612964
Premature Ovarian Failure 8 AR 615723
Premature Ovarian Failure 9 AR 615724
Proprotein Convertase 1/3 Deficiency AR 600955
Septooptic Dysplasia AR 182230
Testosterone 17-Beta-Dehydrogenase Deficiency AR 264300
Wilms' Tumor AD 194070
X-Linked Lissencephaly 2 AR 300215

Related Test

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PGxome®

Citations

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