Ambiguous Genitalia Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
6903 AKR1C4 81479,81479 Order Options and Pricing
ANOS1 81406,81479
AR 81173,81479
ARX 81404,81403
ATRX 81479,81479
B3GLCT 81479,81479
BCOR 81479,81479
BMP4 81479,81479
CCNQ 81479,81479
CDKN1C 81479,81479
CEP41 81479,81479
CHD4 81479,81479
CHD7 81407,81479
CILK1 81479,81479
CREBBP 81407,81406
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
DNMT3B 81479,81479
DYNC2H1 81479,81479
DYNC2I1 81479,81479
ESCO2 81479,81479
FAT4 81479,81479
FEZF1 81479,81479
FGFR1 81405,81479
FIG4 81406,81479
FRAS1 81479,81479
FREM2 81479,81479
GATA4 81479,81479
GNRHR 81479,81479
GRIP1 81479,81479
HCCS 81479,81479
HOXA13 81479,81479
HSD17B3 81479,81479
HSD17B4 81479,81479
HSD3B2 81479,81479
IL17RD 81479,81479
IRF6 81479,81479
KISS1R 81479,81479
LHCGR 81406,81479
LMNA 81406,81479
MAP3K1 81479,81479
MKKS 81479,81479
MKS1 81479,81479
NEK1 81479,81479
NR0B1 81404,81479
NR5A1 81479,81479
NSMF 81479,81479
OPHN1 81479,81479
POR 81479,81479
PROKR2 81479,81479
PTPN11 81406,81479
RIPK4 81479,81479
ROR2 81479,81479
RSPO1 81479,81479
SALL1 81479,81479
SEMA3A 81479,81479
SETBP1 81479,81479
SOS1 81406,81479
SOX10 81479,81479
SOX2 81479,81479
SOX3 81479,81479
SOX9 81479,81479
SPECC1L 81479,81479
SRD5A2 81479,81479
SRY 81400,81479
STAR 81479,81479
TBX15 81479,81479
TOE1 81479,81479
TRAIP 81479,81479
TSPYL1 81479,81479
TWIST2 81479,81479
UBR1 81479,81479
WNT4 81479,81479
WNT5A 81479,81479
WNT7A 81479,81479
WT1 81405,81479
WWOX 81479,81479
ZFPM2 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
6903Genes x (85)81479 81173, 81400, 81403, 81404, 81405, 81406, 81407, 81479 $990 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.

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

Ambiguous genitalia is a rare condition in which external genitalia do not appear to have the typical appearance of either male or female. Ambiguous genitalia is a subset of disorder of sex development (DSD). Sex development is a complex process under genetic control directing the initially bi-potential gonad to develop into either a testis or an ovary (sex determination), and the consequent differentiation of internal ducts and external genitalia (sex differentiation) (Laino et al. 2014. PubMed ID: 25248670). Disruption of either determination or differentiation can lead to DSD which are congenital conditions with atypical development of chromosomal, gonadal, or anatomic sex (Hughes et al. 2006. PubMed ID: 18947601). DSD, ranging in severity from genital abnormalities to complete sex reversal, includes congenital development of ambiguous genitalia, disjunction between the internal and external sex anatomy, incomplete development of sex anatomy, sex chromosome anomalies (Turner Syndrome; Klinefelter Syndrome) and disorders of gonadal development (Park et al. 2006).

Three subtypes of DSD are generally recognized: Sex Chromosome DSD, 46,XX DSD and 46,XY DSD. 46,XY DSD result from incomplete intrauterine virilization and are characterized by ambiguous or ‘female’ external genitalia, variable gonadal dysgenesis, hypospadias, oligospermia, azoospermia, and müllerian structures that range from absence to presence of a uterus and fallopian tubes (Mohnach et al. 2016. PubMed ID: 20301714). 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).

Genetics

DSD are complex conditions caused by a wide range of genetic anomalies. They can be inherited in an autosomal dominant, autosomal recessive, X-linked, or Y-linked manner 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). These genes are implicated in sex determination, sex differentiation and causes of hypogonadism. The most commonly involved genes in DSD include SRY, NR5A1, MAP3K1, DHH, NR0B1 (DAX1), WNT4, CYP21A2, and SOX9. See individual gene test descriptions for information on molecular biology of gene products and mutation spectra.

Copy number variants (CNVs) are also a common genetic cause of ambiguous genitalia. Clinically significant CNVs were detected in 25% of patients with ambiguous genitalia (Tannour-Louet et al. 2010. PubMed ID: 21048976). For this reason, genetic testing to detect large cytogenetic events and CNVs is recommended for patients with ambiguous genitalia. Our CNV analysis enables these large cytogenetic abnormalities as well as some exon level CNVs to be identified from NGS data.

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.

Clinical Sensitivity - Sequencing with CNV PGxome

This multi-gene panel analyzes genes involved in both syndromic and non-syndromic Disorders of Sex Development (DSD). 64 genes in this panel account for approximately 35% of cases of 46,XY DSD (Baxter et al. 2015. PubMed ID: 25383892). In one cohort, clinically significant CNVs were detected in 25% of patients with ambiguous genitalia (Tannour-Louet et al. 2010. PubMed ID: 21048976). So far, gross deletions or duplications have been reported in SOX3, LHCGR, SRY, NR0B1, DMRT1, NR5A1, GATA4, WT1, and WNT4.

Testing Strategy

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

This panel typically provides 99.6% 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 are individuals with symptoms consistent with disorders of sex development especially ambiguous or abnormal genitalia.

Diseases

Name Inheritance OMIM ID
3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of AR 201810
3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency AR 264600
46, XX sex reversal 4 AD 617480
46,XX Sex Reversal, Type 1 400045
46,XY Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 607080
46,XY Sex Reversal 8 AR 614279
46,XY Sex Reversal, Type 1 400044
46,XY Sex Reversal, Type 2 XL 300018
46,XY Sex Reversal, Type 3 AD 612965
46,XY Sex Reversal, Type 6 AD 613762
46,XY Sex Reversal, Type 7 AR 233420
46XY Sex Reversal 9 AD 616067
Ablepharon-macrostomia syndrome AD 200110
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency AR 202010
Adrenal Insufficiency, Congenital, With 46,XY Sex Reversal, Partial Or Complete 613743
Alpha-Thalassemia Myelodysplasia Syndrome 300448
Amyotrophic Lateral Sclerosis Type 11 AD 612577
Amyotrophic lateral sclerosis, susceptibility to, 24 617892
Androgen Resistance Syndrome XL 300068
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis AR 201750
Aromatase Deficiency 613546
ATR-X Syndrome XL 301040
Atrial Septal Defect 2 AD 607941
Atrioventricular Septal Defect 4 AD 614430
Barber-Say Syndrome AD 209885
Bardet-Biedl Syndrome 13 AR 615990
Bardet-Biedl Syndrome 6 AR 605231
Beckwith-Wiedemann Syndrome AD 130650
Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy AD 181350
Brachydactyly, Type B1 AD 113000
Bulbo-Spinal Atrophy X-Linked XL 313200
Camptomelic Dysplasia AD 114290
Central Precocious Puberty AD 176400
Centromeric Instability Of Chromosomes 1,9 And 16 And Immunodeficiency AR 242860
Charcot-Marie-Tooth Disease Type 2B1 AR 605588
Charcot-Marie-Tooth Disease, Type 4J AR 611228
CHARGE Association AD 214800
Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency AR 201710
Cousin Syndrome AR 260660
D-Bifunctional Protein Deficiency AR 261515
Deficiency Of Steroid 17-Alpha-Monooxygenase AR 202110
Desmosterolosis AR 602398
Diaphragmatic Hernia 3 610187
Dilated Cardiomyopathy 1A AD 115200
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency AR 613571
Drash Syndrome AD 194080
Emery-Dreifuss muscular dystrophy 3, AR AR 616516
Encephalocraniocutaneous lipomatosis 613001
Endocrine-Cerebroosteodysplasia AR 612651
Epilepsy, juvenile myoclonic, susceptibility to, 10 AD 617924
Epileptic encephalopathy, early infantile, 1 XL 308350
Epileptic Encephalopathy, Early Infantile, 28 AR 616211
Esophageal Cancer AR 133239
Fallot Tetralogy AD 187500
Familial Gynecomastia, Due To Increased Aromatase Activity AD 139300
Focal facial dermal dysplasia 3, Setleis type AR 227260
Fraser Syndrome AR 219000
Fraser Syndrome 2 AR 617666
Fraser Syndrome 3 AR 617667
Frasier Syndrome AD 136680
Fuhrmann Syndrome AR 228930
Glucocorticoid-Remediable Aldosteronism AD 103900
Gonadotropin-Independent Familial Sexual Precocity AD 176410
Hand Foot Uterus Syndrome AD 140000
Hartsfield syndrome AD 615465
Heart-Hand Syndrome, Slovenian Type AD 610140
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 AR 616006
Hereditary Gingival Fibromatosis AD 135300
Hutchinson-Gilford Syndrome AR, AD 176670
Hypogonadotropic Hypogonadism 16 with or without Anosmia AD 614897
Hypogonadotropic Hypogonadism 18 with or without Anosmia AR, AD 615267
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 1, X-Linked XL 300633
IMAGE Syndrome AD 614732
Isolated X-Linked Adrenal Hypoplasia Congenita XL 300200
Jackson-Weiss Syndrome AD 123150
Johanson-Blizzard Syndrome AR 243800
Joubert syndrome 15 AR 614464
Joubert Syndrome 28 AR 617121
Juvenile Myelomonocytic Leukemia AD 607785
Kallmann Syndrome 1 XL 308700
Kallmann Syndrome 2 AD 147950
Kallmann Syndrome 3 AD 244200
Kallmann Syndrome 5 AD 612370
LEOPARD Syndrome AD 151100
Leydig Cell Hypoplasia, Type I AR 238320
Limb-Girdle Muscular Dystrophy, Type 1B AD 159001
Lipodystrophy, Familial Partial, Type 2 AD 151660
Malignant Mesothelioma AD 156240
Malouf Syndrome AD 212112
Mandibuloacral Dysplasia With Type A Lipodystrophy AR 248370
Mckusick Kaufman Syndrome AR 236700
Meacham Syndrome AD 608978
Meckel Syndrome 1 AR 249000
Mental Retardation, Autosomal Dominant 29 AD 616078
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related XL 300419
Mental Retardation, X-Linked, With Panhypopituitarism 300123
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 XL 309580
Metachondromatosis AD 156250
Methemoglobinemia and Ambiguous Genitalia AR 250790
Microphthalmia Syndromic 3 AD 206900
Microphthalmia Syndromic 6 AD 607932
Microphthalmia Syndromic 7 XL 309801
Mullerian Aplasia And Hyperandrogenism AD 158330
Muscular Dystrophy, Congenital, LMNA-Related AD 613205
Nephrotic syndrome, type 4 AD 256370
Noonan Syndrome 1 AD 163950
Noonan Syndrome 4 AD 610733
Oculofaciocardiodental Syndrome XL 300166
Oculomaxillofacial Dysostosis AD 600251
Opitz GBBB syndrome, type II AD 145410
Orofacial Cleft 11 AD 600625
Orofacial Cleft 6, Susceptibility To 608864
Osteoglophonic Dysplasia AD 166250
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,XX Sex Reversal AR 610644
Panhypopituitarism X-Linked XL 312000
Partington X-Linked Mental Retardation Syndrome XL 309510
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease AD 609136
Perrault Syndrome AR 233400
Peters Plus Syndrome AR 261540
Pfeiffer Syndrome AD 101600
Polymicrogyria, bilateral temporooccipital AR 612691
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
Premature Ovarian Failure 7 AD 612964
Prostate Cancer AD 176807
Proud Levine Carpenter Syndrome XL 300004
Reifenstein Syndrome XL 312300
Restrictive Dermopathy, Lethal AR 275210
Roberts Syndrome AR 268300
Roberts-SC Phocomelia Syndrome AR 269000
Robinow Syndrome AD 180700
Robinow Syndrome, Autosomal Recessive AR 268310
Rubinstein-Taybi Syndrome AD 180849
Schinzel-Giedion Midface Retraction Syndrome AD 269150
Seckel Syndrome 9 AR 616777
Serkal Syndrome AR 611812
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 8 with or without Polydactyly AR 615503
Sifrim-Hitz-Weiss Syndrome AD 617159
Smith-Lemli-Opitz Syndrome AR 270400
Spermatogenic Failure 8 AD 613957
Spinocerebellar ataxia, autosomal recessive 12 AR 614322
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
Townes-Brocks Syndrome AD 107480
Trigonocephaly, Nonsyndromic AD 190440
Ulna And Fibula Absence Of With Severe Limb Deficiency AR 276820
Van Der Woude Syndrome AD 119300
Van Maldergem Syndrome 2 AR 615546
Ventricular Septal Defect 1 AD 614429
Waardenburg Syndrome, Type 2E AD 611584
Waardenburg Syndrome, Type 4C AD 613266
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

  • Baxter et al. 2015. PubMed ID: 25383892
  • Hughes et al. 2006. PubMed ID: 18947601
  • Knarston et al. 2016. PubMed ID: 26846580
  • Laino et al. 2014. PubMed ID: 25248670
  • Mohnach et al. 2016. PubMed ID: 20301714
  • Park et al. 2006. Consortium on the Management of Disorders of Sex Development.
  • Tannour-Louet et al. 2010. PubMed ID: 21048976

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.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

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

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