Male Infertility Deletion/Duplication Panel

Deletion/Duplication Testing

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
◦ Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
◦ Androgen Insensitivity Syndrome
◦ Antley-Bixler Syndrome
◦ Antley-Bixler Syndrome without Genital Anomalies or Disordered Steroidogenesis
◦ Aromatase Deficiency
◦ Autoimmune Polyendocrinopathy Syndrome Type 1
◦ 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
◦ Blepharophimosis, Ptosis, and Epicanthus Inversus
◦ CHD7-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
◦ Complete Androgen Insensitivity Syndrome
◦ Congenital Absence of the Vas Deferens
◦ Congenital Adrenal Hyperplasia due to Apparent Combined P450c17 and P450c21 Deficiency
◦ Cystic Fibrosis
◦ 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
◦ 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
◦ Panhypopituitarism, X-linked
◦ Partial Androgen Insensitivity Syndrome
◦ 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 3
◦ Spermatogenic Failure 5
◦ Spermatogenic Failure 6
◦ Spermatogenic Failure 7
◦ 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◦ Del/Dup (CNV)
GenesAIRE, ANOS1, AR, ARL6, ARX, ATRX, AURKC, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CATSPER1, CFTR, CHD7, CYP17A1, CYP19A1, DHH, DNAH1, FGF8, FGFR1, FGFR2, FOXL2, FSHB, GALNTL5, GATA4, GNRH1, GNRHR, HESX1, HFE, HS6ST1, HSD17B3, KISS1, KISS1R, LEP, LEPR, LHCGR, LHX3, LHX4, MAP3K1, MKKS, NR0B1, NR5A1, NSMF, PCSK1, PICK1, POR, PROK2, PROKR2, PROP1, SEMA3A, SLC26A8, SOX2, SOX3, SPATA16, SRD5A2, SRY, TAC3, TACR3, TRIM32, TTC8, WDR11, WNT4, WT1
Ordering
Test Code600
Test URLhttp://www.preventiongenetics.com/testInfo.php?sel=test&val=4511
Turnaround Time3-4 weeks
Preferred SpecimenBlood (3-5 mL in Purple Top Tube)
Alternate SpecimenDNA
ShippingShip overnight at ambient temperature.
Billing
List Price$1,670.00
Institutional Price$1,670.00
Self-pay Price$1,670.00
Billing Infohttps://www.preventiongenetics.com/Billing/General/StandardBillingPolicy.php
CPT Code◦ 81479 x 65
◦ 81403
◦ 81222
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

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