Abnormal/Ambiguous Genitalia Sequencing Test

Clinical Research Prenatal Carrier

Test Details
Disorder◦ 17-Beta Hydroxysteroid Dehydrogenase III Deficiency
◦ 17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
◦ 3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia
◦ 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
◦ Absence of Ulna and Fibula with Severe Limb Deficiency
◦ Acampomelic Campomelic Dysplasia
◦ Adrenal Insufficiency, Congenital, with 46XY Sex Reversal, Partial or Complete
◦ Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
◦ Androgen Insensitivity Syndrome
◦ Antley-Bixler Syndrome
◦ Aromatase Deficiency
◦ CHARGE Syndrome
◦ CREBBP-Related Rubinstein-Taybi Syndrome
◦ Campomelic Dysplasia
◦ Cleidocranial Dysplasia
◦ Complete Androgen Insensitivity Syndrome
◦ DHH-Related 46,XY DSD and 46,XY CGD
◦ Denys-Drash Syndrome
◦ Desmosterolosis
◦ FRAS1-Related Fraser Syndrome
◦ FREM2-Related Fraser Syndrome
◦ GRIP1-Related Fraser Syndrome
◦ Hand-Foot-Genital Syndrome
◦ IMAGe Syndrome
◦ Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
◦ Johanson-Blizzard Syndrome
◦ Leydig Cell Hypoplasia/Agenesis
◦ MAP3K1-Related 46,XY DSD and 46,XY CGD
◦ MKKS-Related Bardet-Biedl Syndrome
◦ MKS1-Related Bardet-Biedl Syndrome
◦ MKS1-Related Meckel Syndrome
◦ McKusick-Kaufman Syndrome
◦ Microphthalmia with Linear Skin Defects Syndrome
◦ Microphthalmia, Syndromic 2
◦ Microphthalmia, Syndromic 6
◦ Mullerian Aplasia and Hyperandrogenism
◦ NR0B1-Related 46,XY DSD and 46,XY CGD
◦ NR5A1-Related 46,XY DSD and 46,XY CGD
◦ Opitz G/BBB Syndrome, Autosomal Dominant
◦ Oral-Facial-Digital Syndrome Type IV
◦ PTPN11-Related Noonan Syndrome
◦ Partial Androgen Insensitivity Syndrome
◦ Peters Plus Syndrome
◦ Popliteal Pterygium Syndrome
◦ Popliteal Pterygium Syndrome, Lethal Type
◦ ROR2-Related Disorders
◦ Roberts Syndrome
◦ Robinow Syndrome, Autosomal Recessive
◦ SRY-Positive 46,XX Testicular Disorder of Sex Development
◦ SRY-Related 46,XY DSD and 46,XY CGD
◦ Schinzel-Giedion Midface Retraction Syndrome
◦ Short Rib Polydactyly Syndrome, Majewski Type
◦ Short Rib Polydactyly Syndrome, Saldino-Noonan Type
◦ Short Rib Polydactyly Syndrome, Verma-Naumoff Type
◦ Smith-Lemli-Opitz Syndrome
◦ TCTN3-Related Joubert Syndrome
◦ Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations
◦ Townes-Brocks Syndrome
◦ Van den Ende-Gupta Sndrome
◦ X-Linked Adrenal Hypoplasia Congenita
◦ 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, ANOS1, AR, ARX, ATRX, B3GALTL, BCOR, BMP4, CDKN1C, CEP41, CHD7, CREBBP, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, DHCR24, DHCR7, DHH, DNMT3B, DYNC2H1, ESCO2, FAM58A, FAT4, FEZF1, FIG4, FRAS1, FREM2, GATA4, GRIP1, HCCS, HOXA13, HSD17B3, HSD3B2, ICK, IL17RD, IRF6, KISS1R, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, NSMF, OPHN1, POR, PTPN11, RIPK4, ROR2, RSPO1, SALL1, SCARF2, SEMA3A, SETBP1, SOX9, SPECC1L, SRD5A2, SRY, STAR, TBX15, TCTN3, TSPYL1, UBR1, WDR60, WNT4, WNT7A, WT1, ZFPM2
Ordering
Test URLhttp://dnatesting.uchicago.edu/tests/749
Turnaround Time8-9 weeks
Preferred Specimen3-5 mL whole blood in EDTA (lavender top tube)
ShippingShip overnight at room temperature
Billing
Institutional Price$4,000.00
Billing Infohttp://dnatesting.uchicago.edu/billing
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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