Disorders of Sex Development (DSD) and Infertility Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
2669 ADGRG2 81479,81479 Order Options and Pricing
AIRE 81406,81479
AKR1C4 81479,81479
AMH 81479,81479
AMHR2 81479,81479
ANOS1 81406,81479
AR 81173,81479
ARL6 81479,81479
ARX 81404,81403
ATF3 81479,81479
ATRX 81479,81479
AURKC 81479,81479
AXL 81479,81479
B3GLCT 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
BCOR 81479,81479
BMP15 81479,81479
BMP4 81479,81479
BMP7 81479,81479
BNC2 81479,81479
BRDT 81479,81479
CATSPER1 81479,81479
CBX2 81479,81479
CCDC141 81479,81479
CCNQ 81479,81479
CDKN1C 81479,81479
CEP41 81479,81479
CFAP43 81479,81479
CFAP44 81479,81479
CFTR 81223,81222
CHD4 81479,81479
CHD7 81407,81479
CILK1 81479,81479
CLPP 81479,81479
CREBBP 81407,81406
CUL7 81479,81479
CYB5A 81479,81479
CYP11A1 81479,81479
CYP11B1 81405,81479
CYP17A1 81405,81479
CYP19A1 81479,81479
DHCR24 81479,81479
DHCR7 81405,81479
DHH 81479,81479
DMRT1 81479,81479
DMRT2 81479,81479
DNAH1 81479,81479
DNMT3B 81479,81479
DUSP6 81479,81479
DYNC2H1 81479,81479
DYNC2I1 81479,81479
EFNB1 81479,81479
EIF2B1 81479,81479
EIF2B2 81405,81479
EIF2B3 81406,81479
EIF2B4 81406,81479
EIF2B5 81406,81479
EPG5 81479,81479
ESCO2 81479,81479
EVC 81479,81479
EVC2 81479,81479
FAT4 81479,81479
FBXL4 81479,81479
FEZF1 81479,81479
FGF10 81479,81479
FGF17 81479,81479
FGF8 81479,81479
FGFR1 81405,81479
FGFR2 81479,81479
FGFR3 81479,81479
FIG4 81406,81479
FIGLA 81479,81479
FLNA 81479,81479
FLRT3 81479,81479
FOXL2 81479,81479
FRAS1 81479,81479
FREM2 81479,81479
FSHB 81479,81479
FSHR 81479,81479
GALNTL5 81479,81479
GALT 81406,81479
GATA4 81479,81479
GLI3 81479,81479
GNRH1 81479,81479
GNRHR 81479,81479
GPC3 81479,81479
GRIP1 81479,81479
HBA1 81479,81479
HCCS 81479,81479
HESX1 81479,81479
HFE 81479,81479
HFM1 81479,81479
HHAT 81479,81479
HNF1B 81405,81404
HOXA13 81479,81479
HOXA4 81479,81479
HOXB6 81479,81479
HS6ST1 81479,81479
HSD17B3 81479,81479
HSD17B4 81479,81479
HSD3B2 81479,81479
IL17RD 81479,81479
INSL3 81479,81479
IRF6 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
LMNA 81406,81479
MAMLD1 81479,81479
MAP3K1 81479,81479
MCM8 81479,81479
MCM9 81479,81479
MED12 81479,81479
MID1 81479,81479
MKKS 81479,81479
MKS1 81479,81479
NANOS1 81479,81479
NEK1 81479,81479
NOBOX 81479,81479
NPAS2 81479,81479
NR0B1 81404,81479
NR3C1 81479,81479
NR5A1 81479,81479
NSMF 81479,81479
NUP107 81479,81479
OPHN1 81479,81479
PADI6 81479,81479
PCNT 81479,81479
PCSK1 81479,81479
PDE4D 81479,81479
PEX1 81479,81479
PICK1 81479,81479
PITX2 81479,81479
PLCZ1 81479,81479
POR 81479,81479
PRLR 81479,81479
PROK2 81479,81479
PROKR2 81479,81479
PROP1 81404,81479
PSMC3IP 81479,81479
PTDSS1 81479,81479
PTPN11 81406,81479
RBBP8 81479,81479
RIPK4 81479,81479
ROR2 81479,81479
RSPO1 81479,81479
SALL1 81479,81479
SEMA3A 81479,81479
SEMA3E 81479,81479
SEPTIN12 81479,81479
SETBP1 81479,81479
SLC26A8 81479,81479
SOHLH1 81479,81479
SOS1 81406,81479
SOX10 81479,81479
SOX2 81479,81479
SOX3 81479,81479
SOX9 81479,81479
SPATA16 81479,81479
SPECC1L 81479,81479
SPRY4 81479,81479
SRA1 81479,81479
SRD5A2 81479,81479
SRY 81400,81479
STAG3 81479,81479
STAR 81479,81479
SUN5 81479,81479
SYCE1 81479,81479
SYCP3 81479,81479
TAC3 81479,81479
TACR3 81479,81479
TAF4B 81479,81479
TBX15 81479,81479
TEX11 81479,81479
TMEM70 81479,81479
TOE1 81479,81479
TP63 81479,81479
TRAIP 81479,81479
TRIM32 81479,81479
TSPYL1 81479,81479
TTC8 81479,81479
TWIST2 81479,81479
UBR1 81479,81479
WDR11 81479,81479
WDR35 81479,81479
WNT4 81479,81479
WNT5A 81479,81479
WNT7A 81479,81479
WT1 81405,81479
WWOX 81479,81479
ZEB2 81405,81404
ZFPM2 81479,81479
ZMYND15 81479,81479
ZP1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
2669Genes x (207)81479 81173, 81222, 81223, 81400, 81403, 81404, 81405, 81406, 81407, 81479 $1490 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.

Due to low mappability of reads for CYP21A2 caused by the presence of pseudogenes with very high sequence similarity, we cannot confidently call variants in this gene via NGS sequencing, and this gene is not included in this panel. Please see our individual gene summary if CYP21A2 testing is desired.

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

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 hypognadotrophic hypogonadism, hypergonadotrophic hypogonadism, and obstructive disorders (Layman. 2002. PubMed ID: 11897813). Patients with hypognadotrophic hypogonadism present with absent or deficient puberty and poorly defined secondary sexual characteristics owing to low serum gonadotrophin, follicle stimulating hormone (FSH), and luteinizing hormone (LH); while infertility in patients with hypergonadotrophic hypogonadism is usually caused by gonadal defect (primary amenorrhea and premature ovarian failure in females; oligospermia, azoospermia , or other abnormalities of sperm morphology or motility in males). 46,XX testicular disorder of sex development is also a cause of infertility in phenotypical normal males.

Disorders of sex development (DSD) are congenital conditions with atypical development of chromosomal, gonadal, or anatomic sex (Hughes et al. 2006. PubMed ID: 18947601). This group of disorders are highly heterogeneous and range in severity from hypospadias (1 in 250 boys), ambiguous genitalia (1 in 4,500 live births), to complete XX or XY sex reversal (1 in 20,000 births) (Park et al. 2006; Ohnesorg et al. 2014. PubMed ID: 24504012).

Three subtypes of DSD are generally recognized: Sex Chromosome DSD, 46,XY DSD and 46,XX DSD. Sex chromosome DSDs include Turner syndrome (45,X), Klinefelter syndrome (47,XXY), mosaic 45,X/46,XY mixed gonadal dysgenesis, and 46,XX/46/XY ovotesticular DSD.

46,XY DSD include complete and partial gonadal dysgenesis (CGD) and result from incomplete intrauterine virilization. It is characterized by a 46,XY karyotype, ambiguous or ‘female’ external genitalia, variable gonadal dysgenesis, hypospadias, azoospermia, and müllerian structures that range from absence to presence of a uterus and fallopian tubes (Mohnach et al. 2016. PubMed ID: 20301714). The main cause is pathogenic variants or deletions of SRY, which have been identified in 15% of individuals with 46,XY CGD.

46,XX DSD relate to excess androgen and are characterized by ambiguous or ‘male’ external genitalia, müllerian aplasia, hyperandrogenism and primary amenorrhea (Knarston et al. 2016. PubMed ID: 26846580). These include 46,XX testicular and ovotesticular DSD, as well as 46,XX gonadal dysgenesis. Known etiologies include SRY translocation, and SOX9 or SOX3 gene CNVs.

Clinical management of DSD is often difficult, and currently only 13% patients receive an accurate clinical genetic diagnosis (Arboleda et al. 2013. PubMed ID: 22435390). An accurate diagnosis is critical to predict the occurrence of life-threatening crises, response to hormone replacement therapy, eventual gender, fertility, and recurrence risk.

Genetics

It is estimated that genetic abnormalities including both chromosomal and single-gene alterations can account for up to 30% of cases of infertility (Hotaling. 2014. PubMed ID: 24286764). Apart from chromosomal abnormalities, alterations in reproductive function can be caused by gene defects at various levels of the hypothalamin-pituitary-gonadal axis. Mendelian forms may be inherited in an autosomal dominant (AD), autosomal recessive (AR), X-linked (XL), Y-linked (YL) manner, or arise de novo. At least 35 genes have been shown to cause hypogonadotropic hypogonadism; 14 genes are involved in gonadal failure in females with hypergonadotropic hypogonadism (Layman. 2013. PubMed ID: 23499866). Moreover, single or multiple gene defects in other clinical conditions, such as cryptorchidism, premature ovarian failure and spermatogenic failure, have also been recently described.

DSD are complex conditions caused by a wide range of genetic anomalies. They can be inherited in an autosomal dominant (AD), autosomal recessive (AR), X-linked (XL), and Y-linked (YL) manner, or arise de novo depending on the gene involved. To date, more than 60 genes have been showed to be involved in DSD (Baxter et al. 2015. PubMed ID: 25383892; Eggers et al. 2016. PubMed ID: 27899157). These genes are implicated in sex determination, sex differentiation and hypogonadism.

Androgen insensitivity is the most common form of DSD and is caused by a mix of missense, protein truncating variants, and deletions in the AR gene. Pathogenic variants in the AR gene have been reported in 9.4% (26/278) of 46,XY DSD patients. Beyond the AR gene, pathogenic variants in NR5A1, SRD5A2, ZFPM2, HSD17B3, DHH, MAP3K1, SRY, CYP21A2, SOX9, duplication of NR0B1 and deletion of DMRT1 have also been frequently detected in DSD patients (Baxter et al. 2015. PubMed ID: 25383892; Eggers. et al. 2016. PubMed ID: 27899157).

Sex chromosome aneuploidy, structural abnormality and copy number variants (CNVs) are common genetic causes of DSD and infertility. Deletions or duplications have been reported in SOX3, LHCGR, SRY, NR0B1, DMRT1, NR5A1, GATA4, WT1, WNT4, FGFR2, and DPY19L2 genes in patients with DSD and /infertility. For this reason, genetic testing to detect large cytogenetic events and CNVs is recommended in the case of a patient with ambiguous genitalia, other suspected disorder of sex development, or infertility. Our CNV detection via analysis of NGS data enables these large cytogenetic abnormalities as well as many exon level CNVs to be identified.

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

Clinical Sensitivity - Sequencing with CNV PGxome

This panel analyzes genes involved in both syndromic and non-syndromic Disorders of Sex Development (DSD), and male/female infertility. 64 genes in this panel have provided genetic diagnosis in 35%-43% of patients with 46,XY DSD and in 17% of patients with 46,XX DSD (Baxter et al. 2015. PubMed ID: 25383892; Eggers et al. 2016. PubMed ID: 27899157). Pathogenic variants in 28 genes cause hypogonadotropic hypogonadism in about 40-50% of patients. Pathogenic variants in 14 genes cause gonadal failure in 15% of affected females with hypergonadotropic hypogonadism (Layman. 2013. PubMed ID: 23499866).

Testing Strategy

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

This panel typically provides 99.3% 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).

Indications for Test

Candidates for this test include individuals with symptoms of disorders of sex development, including both non-syndromic DSD with ambiguous or abnormal genitalia and syndromic conditions that involve additional congenital anomalies, as well as individuals with genetic infertility.

Genes

Official Gene Symbol OMIM ID
ADGRG2 300572
AIRE 607358
AKR1C4 600451
AMH 600957
AMHR2 600956
ANOS1 300836
AR 313700
ARL6 608845
ARX 300382
ATF3 603148
ATRX 300032
AURKC 603495
AXL 109135
B3GLCT 610308
BBS1 209901
BBS10 610148
BBS12 610683
BBS2 606151
BBS4 600374
BBS5 603650
BBS7 607590
BBS9 607968
BCOR 300485
BMP15 300247
BMP4 112262
BMP7 112267
BNC2 608669
BRDT 602144
CATSPER1 606389
CBX2 602770
CCDC141 616031
CCNQ 300708
CDKN1C 600856
CEP41 610523
CFAP43 617558
CFAP44 617559
CFTR 602421
CHD4 603277
CHD7 608892
CILK1 612325
CLPP 601119
CREBBP 600140
CUL7 609577
CYB5A 613218
CYP11A1 118485
CYP11B1 610613
CYP17A1 609300
CYP19A1 107910
DHCR24 606418
DHCR7 602858
DHH 605423
DMRT1 602424
DMRT2 604935
DNAH1 603332
DNMT3B 602900
DUSP6 602748
DYNC2H1 603297
DYNC2I1 615462
EFNB1 300035
EIF2B1 606686
EIF2B2 606454
EIF2B3 606273
EIF2B4 606687
EIF2B5 603945
EPG5 615068
ESCO2 609353
EVC 604831
EVC2 607261
FAT4 612411
FBXL4 605654
FEZF1 613301
FGF10 602115
FGF17 603725
FGF8 600483
FGFR1 136350
FGFR2 176943
FGFR3 134934
FIG4 609390
FIGLA 608697
FLNA 300017
FLRT3 604808
FOXL2 605597
FRAS1 607830
FREM2 608945
FSHB 136530
FSHR 136435
GALNTL5 615133
GALT 606999
GATA4 600576
GLI3 165240
GNRH1 152760
GNRHR 138850
GPC3 300037
GRIP1 604597
HBA1 141800
HCCS 300056
HESX1 601802
HFE 613609
HFM1 615684
HHAT 605743
HNF1B 189907
HOXA13 142959
HOXA4 142953
HOXB6 142961
HS6ST1 604846
HSD17B3 605573
HSD17B4 601860
HSD3B2 613890
IL17RD 606807
INSL3 146738
IRF6 607199
KISS1 603286
KISS1R 604161
KLHL10 608778
LEP 164160
LEPR 601007
LHB 152780
LHCGR 152790
LHX3 600577
LHX4 602146
LMNA 150330
MAMLD1 300120
MAP3K1 600982
MCM8 608187
MCM9 610098
MED12 300188
MID1 300552
MKKS 604896
MKS1 609883
NANOS1 608226
NEK1 604588
NOBOX 610934
NPAS2 603347
NR0B1 300473
NR3C1 138040
NR5A1 184757
NSMF 608137
NUP107 607617
OPHN1 300127
PADI6 610363
PCNT 605925
PCSK1 162150
PDE4D 600129
PEX1 602136
PICK1 605926
PITX2 601542
PLCZ1 608075
POR 124015
PRLR 176761
PROK2 607002
PROKR2 607123
PROP1 601538
PSMC3IP 608665
PTDSS1 612792
PTPN11 176876
RBBP8 604124
RIPK4 605706
ROR2 602337
RSPO1 609595
SALL1 602218
SEMA3A 603961
SEMA3E 608166
SEPTIN12 611562
SETBP1 611060
SLC26A8 608480
SOHLH1 610224
SOS1 182530
SOX10 602229
SOX2 184429
SOX3 313430
SOX9 608160
SPATA16 609856
SPECC1L 614140
SPRY4 607984
SRA1 603819
SRD5A2 607306
SRY 480000
STAG3 608489
STAR 600617
SUN5 613942
SYCE1 611486
SYCP3 604759
TAC3 162330
TACR3 162332
TAF4B 601689
TBX15 604127
TEX11 300311
TMEM70 612418
TOE1 613931
TP63 603273
TRAIP 605958
TRIM32 602290
TSPYL1 604714
TTC8 608132
TWIST2 607556
UBR1 605981
WDR11 606417
WDR35 613602
WNT4 603490
WNT5A 164975
WNT7A 601570
WT1 607102
WWOX 605131
ZEB2 605802
ZFPM2 603693
ZMYND15 614312
ZP1 195000
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of AR 201810
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 3 AR 612965
46,XY Sex Reversal, Type 5 AD 613080
46,XY Sex Reversal, Type 6 AD 613762
46,XY Sex Reversal, Type 7 AR 233420
46XY Sex Reversal 9 AD 616067
Acrodysostosis 2, with or without Hormone Resistance AD 614613
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency AR 202010
Adrenal Insufficiency, Congenital, With 46,XY Sex Reversal, Partial Or Complete AR 613743
Alpha Thalassemia AR 604131
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
Axenfeld-Rieger syndrome, type 1 AD 180500
Barber-Say Syndrome AD 209885
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 13 AR 615990
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
Beckwith-Wiedemann Syndrome AD 130650
Blepharophimosis, Ptosis, And Epicanthus Inversus AR 110100
Camptomelic Dysplasia AD 114290
CATSPER-Related Male Infertility AR 612997
Centromeric Instability Of Chromosomes 1,9 And 16 And Immunodeficiency AR 242860
CHARGE Association AD 214800
Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency AR 201710
Congenital Bilateral Absence Of The Vas Deferens AR 277180
Cousin Syndrome AR 260660
Craniofrontonasal Dysplasia XL 304110
Cryptorchidism, Unilateral Or Bilateral AD 219050
Cystic Fibrosis AR 219700
Deficiency Of Steroid 17-Alpha-Monooxygenase AD,AR 202110
Desmosterolosis AR 602398
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 AD 604292
Ellis-van Creveld Syndrome AR 225500
Endocrine-Cerebroosteodysplasia AR 612651
Familial Gynecomastia, Due To Increased Aromatase Activity AR 139300
Fg Syndrome XL 305450
Follicle-Stimulating Hormone Deficiency, Isolated XL 229070
Fraser Syndrome AR 219000
Fraser Syndrome 2 AR 617666
Fraser Syndrome 3 AR 617667
Galactosemia AR 230400
Glucocorticoid Resistance AD 615962
Gonadotropin-Independent Familial Sexual Precocity AR 176410
Hay-Wells Syndrome AD 106260
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
Hypospadias 3, Autosomal AD 146450
Infertility Associated With Multi-Tailed Spermatozoa And Excessive DNA AR 243060
Isolated Lutropin Deficiency AR 228300
Isolated X-Linked Adrenal Hypoplasia Congenita AR 300200
Johanson-Blizzard Syndrome AR 243800
Joubert syndrome 15 AR 614464
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
Lacrimoauriculodentodigital Syndrome AD 149730
Lenz-Majewski Hyperostotic Dwarfism AD 151050
LEOPARD Syndrome AD 151100
Leukoencephalopathy With Vanishing White Matter AR 603896
Malouf Syndrome AD 212112
Maturity-Onset Diabetes Of The Young, Type 5 AD 137920
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 XL 309580
Methemoglobinemia and Ambiguous Genitalia AR 250790
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 AR 210720
Microphthalmia Syndromic 3 AR 206900
Microphthalmia Syndromic 6 AD 607932
Microphthalmia Syndromic 7 XL 309801
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2 AR 614052
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) AR 615471
Mowat-Wilson Syndrome AD 235730
Mullerian Aplasia And Hyperandrogenism AD 158330
Nephrotic Syndrome, Type 11 AR 616730
Noonan Syndrome 1 AD 163950
Noonan Syndrome 4 AD 610733
Obesity, Morbid, Due to Leptin Deficiency AR 614962
Obesity, Morbid, Due to Leptin Receptor Deficiency AR 614963
Oculofaciocardiodental Syndrome XL 300166
Oocyte Maturation Defect AR 615774
Opitz G/BBB Syndrome, Type I XL 300000
Opitz GBBB syndrome, type II AD 145410
Oto-Palato-Digital Syndrome, Type II XL 304120
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
Pallister-Hall Syndrome AD 146510
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
Peroxisome biogenesis disorder 1A (Zellweger) AR 214100
Perrault Syndrome AR 233400
Perrault Syndrome 3 AR 614129
Persistent Mullerian Duct Syndrome AR 261550
Peters Plus Syndrome AR 261540
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
Pontocerebellar Hypoplasia Type 7 AR 614969
Popliteal Pterygium Syndrome AD 119500
Popliteal pterygium syndrome 2, lethal type AR 263650
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 8 AR 615723
Premature Ovarian Failure 9 AR 615724
Proprotein Convertase 1/3 Deficiency AR 600955
Roberts Syndrome AR 268300
Robinow Syndrome AD 180700
Robinow Syndrome, Autosomal Recessive AR 268310
Rubinstein-Taybi Syndrome AD 180849
Schinzel-Giedion Midface Retraction Syndrome AD 269150
Seckel Syndrome 2 AR 606744
Seckel Syndrome 9 AR 616777
Septooptic Dysplasia AR 182230
Short-Rib Thoracic Dysplasia 3 with or without Polydactyly AR 613091
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly AR 263520
Short-Rib Thoracic Dysplasia 7 with or without Polydactyly AR 614091
Short-Rib Thoracic Dysplasia 8 with or without Polydactyly AR 615503
Sifrim-Hitz-Weiss Syndrome AD 617159
Simpson-Golabi-Behmel Syndrome XL 312870
Smith-Lemli-Opitz Syndrome AR 270400
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 3 XL 606766
Spermatogenic Failure 4 AD 270960
Spermatogenic Failure 6 AD 102530
Spermatogenic Failure 8 XL 613957
STAR Syndrome XL 300707
Sudden Infant Death With Dysgenesis Of The Testes Syndrome AR 608800
Testicular Anomalies with or without Congenital Heart Disease AD 615542
Testosterone 17-Beta-Dehydrogenase Deficiency AR 264300
Three M Syndrome 1 AR 273750
Townes-Brocks Syndrome AD 107480
Ulna And Fibula Absence Of With Severe Limb Deficiency AR 276820
Van Maldergem Syndrome 2 AR 615546
Vas Deferens, Congenital Bilateral Aplasia of, X-linked XL 300985
Vici Syndrome AR 242840
Wilms' Tumor AD 194070
X-Linked Lissencephaly 2 XL 300215
X-LinkedMental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance XL 300486
Yunis-Varon Syndrome AR 216340

Related Test

Name
PGxome®

Citations

  • Arboleda et al. 2013. PubMed ID: 22435390
  • Baxter et al. 2015. PubMed ID: 25383892
  • Eggers et al. 2016. PubMed ID: 27899157
  • Hotaling. 2014. PubMed ID: 24286764
  • Hughes et al. 2006. PubMed ID: 18947601
  • Knarston et al. 2016. PubMed ID: 26846580
  • Layman. 2002. PubMed ID: 11897813
  • Layman. 2013. PubMed ID: 23499866
  • Mohnach et al. 2016. PubMed ID: 20301714
  • Ohnesorg et al. 2014. PubMed ID: 24504012
  • Park et al. 2006. Consortium on the Management of Disorders of Sex Development.

Ordering/Specimens

Ordering Options

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myPrevent - Online Ordering

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  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


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