46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel

Clinical Research Prenatal Carrier

Test Details
Disorder◦ 17-Beta Hydroxysteroid Dehydrogenase III Deficiency
◦ 17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
◦ Acampomelic Campomelic Dysplasia
◦ Adrenal Insufficiency, Congenital, with 46XY Sex Reversal, Partial or Complete
◦ Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
◦ Androgen Insensitivity Syndrome
◦ Campomelic Dysplasia
◦ Complete Androgen Insensitivity Syndrome
◦ DHH-Related 46,XY DSD and 46,XY CGD
◦ Denys-Drash Syndrome
◦ Hypospadias 2, X-Linked
◦ Leydig Cell Hypoplasia/Agenesis
◦ MAP3K1-Related 46,XY DSD and 46,XY CGD
◦ Microphthalmia with Linear Skin Defects Syndrome
◦ NR5A1-Related 46,XY DSD and 46,XY CGD
◦ Partial Androgen Insensitivity Syndrome
◦ Persistent Mullerian Duct Syndrome Type II
◦ Persistent Mullerian Duct Syndrome, Type I
◦ Peters Plus Syndrome
◦ SRY-Positive 46,XX Testicular Disorder of Sex Development
◦ SRY-Related 46,XY DSD and 46,XY CGD
◦ Short Rib Polydactyly Syndrome, Saldino-Noonan Type
◦ Short Rib Polydactyly Syndrome, Verma-Naumoff Type
◦ Smith-Lemli-Opitz Syndrome
◦ X-Linked Lissencephaly with Ambiguous Genitalia
◦ X-Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance
Type◦ Molecular
◦ Multi-Gene Panel
Method◦ Sequencing, Next Gen
GenesAKR1C2, AMH, AMHR2, AR, ARX, ATRX, B3GALTL, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, GATA4, HCCS, HSD17B3, LHCGR, MAMLD1, MAP3K1, NR5A1, OPHN1, SOX9, SRD5A2, SRY, WT1, ZFPM2
Ordering
Test URLhttp://dnatesting.uchicago.edu/tests/751
Turnaround Time8-9 weeks
Preferred Specimen3-5 mL whole blood EDTA (lavender top tube)
ShippingShip overnight at room temperature
Billing
Institutional Price$3,000.00
 

Laboratory

University of Chicago, Genetic Services Laboratory
5841 S Maryland Ave. MC0077
Chicago
IL 60637
USA

email: aknightjohnson@bsd.uchicago.edu

Lab Details

 

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