Hypospadias Sequencing Panel

Clinical Research Prenatal Carrier

Test Details
Disorder◦ 3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia
◦ Absence of Ulna and Fibula with Severe Limb Deficiency
◦ Acrodysostosis 2, with or without Hormone Resistance
◦ Adrenal Insufficiency, Congenital, with 46XY Sex Reversal, Partial or Complete
◦ Alpha-Thalassemia
◦ Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
◦ Androgen Insensitivity Syndrome
◦ Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
◦ Axenfeld-Rieger Syndrome
◦ Bardet-Biedl Syndrome
◦ Beckwith-Wiedemann Syndrome
◦ CREBBP-Related Rubinstein-Taybi Syndrome
◦ Craniofrontonasal Syndrome
◦ Denys-Drash Syndrome
◦ Ellis-van Creveld Syndrome
◦ FG Syndrome Type 1
◦ FRAS1-Related Fraser Syndrome
◦ FREM2-Related Fraser Syndrome
◦ Frasier Syndrome
◦ GPC3-Related Simpson-Golabi-Behmel Syndrome Type 1
◦ GRIP1-Related Fraser Syndrome
◦ Hand-Foot-Genital Syndrome
◦ Hypospadias 1, X-linked
◦ Hypospadias 2, X-Linked
◦ Johanson-Blizzard Syndrome
◦ Lacrimo-Auriculo-Dento-Digital Syndrome
◦ Lenz-Majewski Hyperostotic Dwarfism
◦ MAP3K1-Related 46,XY DSD and 46,XY CGD
◦ McKusick-Kaufman Syndrome
◦ Meacham Syndrome
◦ Microcephalic Osteodysplastic Primordial Dwarfism, Type II
◦ Microphthalmia, Syndromic 2
◦ Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2
◦ Mowat-Wilson Syndrome
◦ NR5A1-Related 46,XY DSD and 46,XY CGD
◦ Opitz GBBB Syndrome Type 2
◦ Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
◦ Orofacial Cleft 11
◦ Osteoglophonic Dysplasia
◦ Otopalatodigital Spectrum Disorders
◦ PTPN11-Related LEOPARD Syndrome
◦ PTPN11-Related Noonan Syndrome
◦ Pallister-Hall Syndrome
◦ Popliteal Pterygium Syndrome
◦ Premature Ovarian Failure 7
◦ Rapp-Hodgkin Syndrome
◦ Roberts Syndrome
◦ Schinzel-Giedion Midface Retraction Syndrome
◦ Seckel Syndrome Type 2
◦ Smith-Lemli-Opitz Syndrome
◦ Steroid 5-Alpha-Reductase Deficiency
◦ Townes-Brocks Syndrome
◦ Vici Syndrome
◦ Zellweger Syndrome
◦ van der Woude Syndrome
Type◦ Molecular
◦ Multi-Gene Panel
Method◦ Sequencing, Next Gen
GenesAR, ARX, ATRX, B3GLCT, BCOR, BMP4, CDKN1C, CREBBP, CUL7, CYP11A1, DHCR7, DNMT3B, EFNB1, EPG5, ESCO2, EVC, EVC2, FAT4, FBXL4, FGF10, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FRAS1, FREM2, GLI3, GPC3, GRIP1, HBA1, HCCS, HNF1B, HOXA13, HSD3B2, IRF6, MAMLD1, MAP3K1, MED12, MID1, MKKS, NR5A1, PCNT, PDE4D, PEX1, PITX2, PTDSS1, PTPN11, RBBP8, SALL1, SETBP1, SOX2, SPECC1L, SRD5A2, TMEM70, TP63, UBR1, WDR35, WNT7A, WT1, ZEB2
Ordering
Test Code2111
Test URLhttp://dnatesting.uchicago.edu/tests/hypospadias-sequencing-panel
Turnaround Time8-9 weeks
Preferred Specimen3-5 mL whole blood in EDTA (lavender top tube)
ShippingShip overnight at room temperature
Billing
Institutional Price$2,000.00
Billing Infohttp://dnatesting.uchicago.edu/billing-information
CPT Code81407
 

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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