Disorders of Sex Development Sequencing Panel

Full Gene Sequencing. If you would like to order a subset of these genes contact us to discuss pricing.

Clinical Research Prenatal Carrier

Test Details
Disorder◦ 17-Beta Hydroxysteroid Dehydrogenase III Deficiency
◦ 17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
◦ 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals and Lungs
◦ 46,XX Testicular Disorder of Sex Development
◦ 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
◦ ANOS1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ ARL6-Related Bardet-Biedl Syndrome
◦ Adrenal Insufficiency, Congenital, with 46XY Sex Reversal, Partial or Complete
◦ Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
◦ Androgen Insensitivity Syndrome
◦ Antley-Bixler Syndrome
◦ Antley-Bixler Syndrome without Genital Anomalies or Disordered Steroidogenesis
◦ Aromatase Deficiency
◦ BBS1-Related Bardet-Biedl Syndrome
◦ BBS10-Related Bardet-Biedl Syndrome
◦ BBS12-Related Bardet-Biedl Syndrome
◦ BBS2-Related Bardet-Biedl Syndrome
◦ BBS4-Related Bardet-Biedl Syndrome
◦ BBS5-Related Bardet-Biedl Syndrome
◦ BBS7-Related Bardet-Biedl Syndrome
◦ BBS9-Related Bardet-Biedl Syndrome
◦ CBX2-Related 46,XY DSD and 46,XY CGD
◦ CHD7-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ Campomelic Dysplasia
◦ Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia
◦ Complete Androgen Insensitivity Syndrome
◦ Congenital Adrenal Hyperplasia due to Apparent Combined P450c17 and P450c21 Deficiency
◦ DHH-Related 46,XY DSD and 46,XY CGD
◦ FGF8-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ FGFR1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ GNRH1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ GNRHR-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ HESX1-Related Combined Pituitary Hormone Deficiency
◦ HFE-Associated Hereditary Hemochromatosis
◦ HS6ST1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ Hypospadias 1, X-linked
◦ Hypospadias 2, X-Linked
◦ Isolated Follicle-Stimulating Hormone Deficiency
◦ KISS1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ KISS1R-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ LHX3-Related Combined Pituitary Hormone Deficiency
◦ LHX4-Related Combined Pituitary Hormone Deficiency
◦ Leptin Deficiency
◦ Leptin Receptor Deficiency
◦ MAP3K1-Related 46,XY DSD and 46,XY CGD
◦ MKKS-Related Bardet-Biedl Syndrome
◦ Male-Limited Precocious Puberty
◦ Mullerian Aplasia and Hyperandrogenism
◦ NR0B1-Related 46,XY DSD and 46,XY CGD
◦ NR5A1-Related 46,XY DSD and 46,XY CGD
◦ NSMF-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ PROK2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ PROKR2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ PROP1-Related Combined Pituitary Hormone Deficiency
◦ Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
◦ Panhypopituitarism, X-linked
◦ Partial Androgen Insensitivity Syndrome
◦ Persistent Mullerian Duct Syndrome Type II
◦ Persistent Mullerian Duct Syndrome, Type I
◦ Premature Ovarian Failure 3
◦ Premature Ovarian Failure 7
◦ Proprotein Convertase-1 Deficiency
◦ SEMA3A-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ SOX2-Related Eye Disorders
◦ SRY-Related 46,XY DSD and 46,XY CGD
◦ Septooptic Dysplasia
◦ Spermatogenic Failure 8
◦ Steroid 5-Alpha-Reductase Deficiency
◦ TAC3-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ TACR3-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ TRIM32-Related Bardet-Biedl Syndrome
◦ TTC8-Related Bardet-Biedl Syndrome
◦ Testicular Anomalies with or without Congenital Heart Disease
◦ WDR11-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ WNT4-Related 46,XY DSD and 46,XY CGD
◦ Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome
◦ X-Linked Lissencephaly with Ambiguous Genitalia
Type◦ Molecular
◦ Multi-Gene Panel
Method◦ Sequencing, Next Gen
GenesAMH, AMHR2, ANOS1, AR, ARL6, ARX, ATRX, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CBX2, CHD7, CYP11A1, CYP17A1, CYP19A1, DHH, DMRT1, DMRT2, FGF8, FGFR1, FGFR2, FOXL2, FSHB, GATA4, GNRH1, GNRHR, HESX1, HFE, HS6ST1, HSD17B3, KISS1, KISS1R, LEP, LEPR, LHCGR, LHX3, LHX4, MAMLD1, MAP3K1, MKKS, NR0B1, NR5A1, NSMF, PCSK1, POR, PROK2, PROKR2, PROP1, RSPO1, SEMA3A, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TRIM32, TTC8, WDR11, WNT4, WT1, WWOX
Ordering
Test Code4509
Test URLhttp://www.preventiongenetics.com/testInfo.php?sel=test&val=4509
Turnaround Time3-5 weeks
Preferred SpecimenBlood (3-5 mL in Purple Top Tube)
Alternate SpecimenDNA
ShippingShip overnight at ambient temperature.
Billing
List Price$1,990.00
Institutional Price$1,990.00
Self-pay Price$1,990.00
Billing Infohttps://www.preventiongenetics.com/Billing/General/StandardBillingPolicy.php
CPT Code◦ 81479 x 53
◦ 81406 x 5
◦ 81405 x 5
◦ 81404 x 4
◦ 81407
◦ 81400
Medicaid StatesWisconsin
New York Approved
ABN Required
 

Laboratory

PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking
3800 S. Business Park Ave.
Marshfield
WI 54449
USA

email: clinicaltesting@preventiongenetics.com

Lab Details

 

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