46,xx Sex Reversal 1; Srxx1

Description

A disorder of sex development (DSD) is a 'congenital condition in which development of chromosomal, gonadal, or anatomic sex is atypical.' 46,XX DSD is a disorder of gonadal (ovarian) development, which may be complete or partial (Lee et al., 2006).46,XX male sex reversal is a condition in which a phenotypically normal male has a female genotype. A 'true hermaphrodite' must have both mature ovarian and mature testicular tissue with histologic evidence of follicles and tubules, respectively (van Niekerk and Retief, 1981). It is a genetically heterogeneous condition. Genetic Heterogeneity of 46,XX Sex ReversalAnother form of 46,XX sex reversal (SRXX2 ) is caused by duplication or triplication in a regulatory region upstream of the SOX9 gene (OMIM ) on chromosome 17q24. SRXX3 (OMIM ) is caused by duplications or deletions in the SOX3 (OMIM ) regulatory region on chromosome Xq26.

Clinical Features

Top most frequent phenotypes and symptoms related to 46,xx Sex Reversal 1; Srxx1

  • Cryptorchidism
  • Coma
  • Hypospadias
  • Hypogonadism
  • Hypoplasia of penis
  • Ambiguous genitalia
  • Gynecomastia
  • Scrotal hypoplasia
  • Polycystic ovaries
  • Bifid scrotum
And another 10 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available 46,xx Sex Reversal 1; Srxx1 have a estimated birth prevalence of 2.5 per 100k in Europe.


Mendelian

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46,xx Sex Reversal 1; Srxx1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Skeletal Dysplasia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, TRPV4, HSPG2, FLNA, COMP, SOX9
Specificity
10 %
Genes
34 %
Campomelic Dysplasia with Autosomal Sex Reversal - SOX9 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

SOX9
Specificity
100 %
Genes
34 %
Campomelic Dysplasia.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

SOX9
Specificity
100 %
Genes
34 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, PTPN11, SRY, CDKN1C, FIG4 , (...)

View the complete list with 52 more genes
Specificity
5 %
Genes
100 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, CYP11A1, HCCS, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, LHCGR, ATRX, OPHN1, SOX9, NR5A1, HSD17B3, SRD5A2, GATA4, B3GLCT, AKR1C2, DYNC2H1 , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
100 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, CYP11A1, HCCS, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, LHCGR, ATRX, OPHN1, SOX9, NR5A1, HSD17B3, SRD5A2, GATA4, B3GLCT, AKR1C2, DYNC2H1 , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
100 %
SOX9.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SOX9
Specificity
100 %
Genes
34 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
34 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
34 %
SOX9 Gene Sequencing.

By GeneDx in United States.

SOX9
Specificity
100 %
Genes
34 %
COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ALPL, COL2A1, COL1A1, COL1A2, CRTAP, FGFR3, SLC26A2, SOX9
Specificity
13 %
Genes
34 %
SOX9. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SOX9
Specificity
100 %
Genes
34 %
SOX9. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SOX9
Specificity
100 %
Genes
34 %
Skeletal dysplasia (NGS panel for 31 genes).

By CGC Genetics in Portugal.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
Campomelic dysplasia (deletion/duplication analysis of SOX9 gene).

By CGC Genetics in Portugal.

SOX9
Specificity
100 %
Genes
34 %
Campomelic dysplasia (sequence analysis of SOX9 gene).

By CGC Genetics in Portugal.

SOX9
Specificity
100 %
Genes
34 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
34 %
Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FGFR3, FGFR2, SLC26A2, WDR35, SOX9, IFT140, WDR19, TTC21B, IFT80, EVC, EVC2, IFT122, TCTN3, IFT172, DYNC2H1, NEK1, WDR60, WDR34, PAPSS2
Specificity
6 %
Genes
34 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
34 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1 , (...)

View the complete list with 83 more genes
Specificity
3 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1 , (...)

View the complete list with 86 more genes
Specificity
3 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
2 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)

View the complete list with 138 more genes
Specificity
2 %
Genes
100 %
Skeletal dysplasia core & extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
Skeletal dysplasia core & extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
Skeletal dysplasia core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1
Specificity
10 %
Genes
34 %
Skeletal dysplasia core NGS panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1
Specificity
10 %
Genes
34 %
Skeletal dysplasia core & extended NGS panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
Skeletal dysplasia core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1
Specificity
10 %
Genes
34 %
Campomelic dysplasia Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

SOX9
Specificity
100 %
Genes
34 %
Campomelic dysplasia Sequencing test.

By Connective Tissue Gene Tests in United States.

SOX9
Specificity
100 %
Genes
34 %
Campomelic dysplasia Comprehensive test.

By Connective Tissue Gene Tests in United States.

SOX9
Specificity
100 %
Genes
34 %
Campomelic Dysplasia.

By Bioscientia GmbH Center for Human Genetics in Germany.

SOX9
Specificity
100 %
Genes
34 %
Campomelic dysplasia.

By Centogene AG - the Rare Disease Company in Germany.

SOX9
Specificity
100 %
Genes
34 %
Potentially lethal skeletal disorders Panel.

By CeGaT GmbH in Germany.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
34 %
Skeletal Dysplasia.

By Asper Biogene Asper Biogene LLC in Estonia.

ALPL, COL2A1, FGFR3, FGFR2, SLC26A2, SOX9, WNT5A, ESCO2, ROR2, TRIP11
Specificity
10 %
Genes
34 %
Campomelic Dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

SOX9
Specificity
100 %
Genes
34 %
SOX9 Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

SOX9
Specificity
100 %
Genes
34 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
3 %
Genes
100 %
qGenEx Sex development disorders.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, NR0B1, LHCGR, ATRX, SOX3, POR, SOX9, RIPK4, NR5A1 , (...)

View the complete list with 28 more genes
Specificity
7 %
Genes
100 %
Campomelic Dysplasia.

By MedGene in Slovakia.

SOX9
Specificity
100 %
Genes
34 %
Invitae Campomelic Dysplasia Test.

By Invitae in United States.

SOX9
Specificity
100 %
Genes
34 %
Campomelic dysplasia: SOX9 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SOX9
Specificity
100 %
Genes
34 %
Skeletal dysplasias.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
34 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
34 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, CC2D2A, CEP290, SHH, MKS1, FGFR3, FGFR2, NIPBL, PIGV, SALL1, CHSY1, SOX9, GLI3, TP63, CDH3, BMPR1B, PITX1, FGF10, SALL4, TBX5 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
34 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
34 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
34 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
34 %
SOX9.

By Fulgent Genetics Fulgent Genetics in United States.

SOX9
Specificity
100 %
Genes
34 %
Brachydactyly / Syndactyly Panel.

By Blueprint Genetics in Finland.

RECQL4, DHCR7, CHSY1, SOX9, TP63, BMPR1B, GNAS, MYCN, ESCO2, HOXA13, ROR2, CCNQ, PDE4D, PTDSS1, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
5 %
Genes
34 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
34 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
34 %
Micromelic Dysplasia Panel.

By Blueprint Genetics in Finland.

FBN1, FGFR3, SMAD4, PRKAR1A, SHOX, WDR35, SOX9, ADAMTSL2, IFT140, LTBP2, BMPR1B, WDR19, GNAS, IFT122, EXT1, WNT5A, ROR2, LIFR, SLC35D1, TRIP11 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
Abnormal Genitalia/ Disorders of Sex Development Panel.

By Blueprint Genetics in Finland.

STAR, WT1, CYP11B1, HSD3B2, CYP11A1, BCOR, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, SRY, CDKN1C, FIG4, NR0B1, FGFR1, LHCGR, TACR3 , (...)

View the complete list with 29 more genes
Specificity
7 %
Genes
100 %
Skeletal Dysplasia with Abnormal Mineralization Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, B4GALT7, COL1A1, COL1A2, COL3A1, TNFRSF11A, FBN1, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, TNFRSF11B, COL5A1, COL5A2, VDR , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
34 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
34 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.

By Insight Medical Genetics in United States.

ALPL, FKBP10, IFITM5, COL2A1, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, AGPS, PPIB, FGFR3, FGFR2, PEX7, SLC26A2, FGFR1, COL11A1, TWIST1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
34 %
Campomelic dysplasia.

By Bioarray in Spain.

SOX9
Specificity
100 %
Genes
34 %
Campomelic dysplasia.

By Bioarray in Spain.

SOX9
Specificity
100 %
Genes
34 %
Y Chromosome study.

By Tulane Hayward Genetics Center Molecular Diagnostics Lab Tulane University in United States.

SOX9
Specificity
100 %
Genes
34 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
34 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
34 %
BUSCHKE-OLLENDORFF SYNDROME (OSTEOPOIKILOSIS).

By Laboratorio de Genetica Clinica SL in Spain.

LEMD3, SOX9
Specificity
50 %
Genes
34 %
Campomelic Dysplasia , Sequencing SOX9 Gene.

By Reference Laboratory Genetics in Spain.

SOX9
Specificity
100 %
Genes
34 %
Campomelic Dysplasia , Deletions-Duplications (MLPA) SOX9 Gene.

By Reference Laboratory Genetics in Spain.

SOX9
Specificity
100 %
Genes
34 %
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
34 %
Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

RECQL4, CHSY1, SOX9, TP63, BMPR1B, GNAS, MGP, ESCO2, HOXA13, ROR2, TBX15, WNT7A, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
6 %
Genes
34 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
34 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
34 %
Syndromic disorders of sexual development: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WT1, ARX, DHCR7, ATRX, POR, SOX9, GATA4
Specificity
15 %
Genes
34 %
Ovarian Insufficiency.

By Center for Human Genetics, Inc in United States.

NR5A1
Specificity
100 %
Genes
34 %
Premature Ovarian Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

FOXL2, LMNA, NR5A1, MCM8, HFM1, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR
Specificity
10 %
Genes
34 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, HNF1B, PITX2, MKKS, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, SOX2, FGFR3, AR, ARX, CREBBP, DHCR7, PTPN11, FGFR2, CDKN1C, GPC3, HBA1 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
34 %
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, CYP11B1, HCCS, NR5A1, B3GLCT, CYP19A1, WNT4, RSPO1, PSMC3IP
Specificity
12 %
Genes
34 %
Premature Ovarian Failure Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

FOXL2, LMNA, NR5A1, MCM8, HFM1, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR
Specificity
10 %
Genes
34 %
NR5A1 Gene Sequencing.

By GeneDx in United States.

NR5A1
Specificity
100 %
Genes
34 %
NR5A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NR5A1
Specificity
100 %
Genes
34 %
Spermatogenic failure 8 (SPGF8, sequence analysis of NR5A1 gene).

By CGC Genetics in Portugal.

NR5A1
Specificity
100 %
Genes
34 %
NR5A1-Related Disorders via NR5A1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NR5A1
Specificity
100 %
Genes
34 %
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FOXL2, GALT, CYP17A1, AIRE, EIF2B5, LMNA, EIF2B2, EIF2B4, CLPP, NR5A1, CYP19A1, MCM8, HFM1, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, MCM9, SOHLH1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
NR5A1.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

NR5A1
Specificity
100 %
Genes
34 %
SPGF8.

By Centogene AG - the Rare Disease Company in Germany.

NR5A1
Specificity
100 %
Genes
34 %
46XY sex reversal 3.

By Praxis fuer Humangenetik Wien in Austria.

NR5A1
Specificity
100 %
Genes
34 %
Premature ovarian failure 7.

By Praxis fuer Humangenetik Wien in Austria.

NR5A1
Specificity
100 %
Genes
34 %
Spermatogenic failure 8.

By Praxis fuer Humangenetik Wien in Austria.

NR5A1
Specificity
100 %
Genes
34 %
46XY sex reversal 3.

By MedGene in Slovakia.

NR5A1
Specificity
100 %
Genes
34 %
Premature ovarian failure 7.

By MedGene in Slovakia.

NR5A1
Specificity
100 %
Genes
34 %
Spermatogenic failure 8.

By MedGene in Slovakia.

NR5A1
Specificity
100 %
Genes
34 %
Invitae Disorders of Male Sex Development Panel.

By Invitae in United States.

WT1, AR, SRY, NR0B1, NR5A1, SRD5A2, DHH, MAP3K1
Specificity
25 %
Genes
67 %
Endocrine Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
34 %
Endocrine Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
34 %
NR5A1.

By Fulgent Genetics Fulgent Genetics in United States.

NR5A1
Specificity
100 %
Genes
34 %
Premature Ovarian Failure Panel.

By Blueprint Genetics in Finland.

FOXL2, STAR, WT1, POLG, GALT, CYP17A1, LMNA, LHCGR, POR, NR5A1, GNAS, CYP19A1, NOBOX, BMP15, FSHR
Specificity
7 %
Genes
34 %
46,XY complete gonadal dysgenesis.

By Bioarray in Spain.

NR5A1
Specificity
100 %
Genes
34 %
GONADAL DYSGENESIS.

By Laboratorio de Genetica Clinica SL in Spain.

SRY, NR5A1
Specificity
100 %
Genes
67 %
46 XX Sex Reversal Type 4 , Sequencing NR5A1.

By Reference Laboratory Genetics in Spain.

NR5A1
Specificity
100 %
Genes
34 %
46 XY Sex Reversal Type 3 , Sequencing NR5A1.

By Reference Laboratory Genetics in Spain.

NR5A1
Specificity
100 %
Genes
34 %
Premature Ovarian Failure (POF) and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

FOXL2, STAR, CYP17A1, NR5A1, CYP19A1, WNT4, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, FSHB, POF1B, DIAPH2
Specificity
8 %
Genes
34 %
Gonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2.

By Reference Laboratory Genetics in Spain.

AK2, SRY, NR5A1, DHH
Specificity
50 %
Genes
67 %
Spermatogenic Failure , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

SYCP3, NR5A1, SPATA16, DPY19L2, AURKC, CATSPER1, KLHL10, SEPT12, USP9Y
Specificity
12 %
Genes
34 %
Phosphorus Female Infertility Panel.

By Phosphorus Diagnostics LLC in United States.

F2, F5, FMR1, FOXL2, CYP11A1, GALT, CYP17A1, LHCGR, KISS1R, GNRHR, NR5A1, GNAS, PROS1, PROC, CYP19A1, NOBOX, BMP15, FSHR, FSHB, SERPINC1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FMR1, FOXL2, GALT, CYP17A1, EIF2B5, LMNA, EIF2B3, EIF2B2, LHCGR, POR, NR5A1, CYP19A1, HFM1, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, POF1B, GDF9 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Nonsyndromic Disorders of Testicular Development: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SRY, NR5A1, DHH, MAP3K1
Specificity
50 %
Genes
67 %
SRY Molecular Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SRY
Specificity
100 %
Genes
34 %
SRY-Related 46,XY and 46,XY sex reversal and gonadal dysgenesis.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

SRY
Specificity
100 %
Genes
34 %
SRY-Related 46,XY DSD and 46,XY CGD - Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

SRY
Specificity
100 %
Genes
34 %
SRY-Related 46,XY DSD and 46,XY CGD - Del/Dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

SRY
Specificity
100 %
Genes
34 %
Sex Determination (SRY), DNA Analysis.

By Molecular Diagnostic Laboratory LabCorp in United States.

SRY
Specificity
100 %
Genes
34 %
Y Chromosome Deletion Testing.

By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation in United States.

SRY
Specificity
100 %
Genes
34 %
Sex Determining Y.

By Genetics Laboratory Shodair Children's Hospital in United States.

SRY
Specificity
100 %
Genes
34 %
Y-microdeletion: DAZ/SRY.

By United States Air Force Molecular Diagnostic Laboratory United States Air Force in United States.

SRY, DAZ1
Specificity
50 %
Genes
34 %
Y Microdeletion Testing.

By Michigan State University Clinical Genetics Laboratory Michigan State University in United States.

SRY, ZFY
Specificity
50 %
Genes
34 %
46,XX testicular disorder of sex development.

By Cytogenetics Laboratory Indiana University School of Medicine in United States.

SRY
Specificity
100 %
Genes
34 %
SRY-Related 46,XY DSD and 46,XY CGD.

By Cytogenetics Laboratory Indiana University School of Medicine in United States.

SRY
Specificity
100 %
Genes
34 %
Prenatal SRY Gene Sequencing.

By GeneDx in United States.

SRY
Specificity
100 %
Genes
34 %
SRY Gene Sequencing.

By GeneDx in United States.

SRY
Specificity
100 %
Genes
34 %
46,XX Gonadal Dysgenesis.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SRY
Specificity
100 %
Genes
34 %
SRY. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SRY
Specificity
100 %
Genes
34 %
SRY. Presence or absence detection by PCR.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SRY
Specificity
100 %
Genes
34 %
SRY. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SRY
Specificity
100 %
Genes
34 %
SRY. Presence or absence detection by PCR.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SRY
Specificity
100 %
Genes
34 %
46XX sex reversal 1 (sequence analysis of SRY gene).

By CGC Genetics in Portugal.

SRY
Specificity
100 %
Genes
34 %
46,XY complete gonadal dysgenesis (sequence analysis of SRY).

By CGC Genetics in Portugal.

SRY
Specificity
100 %
Genes
34 %
46,XY complete gonadal dysgenesis (sequence analysis of SRY).

By CGC Genetics in Portugal.

SRY
Specificity
100 %
Genes
34 %
SRY-related Disorders of Sex Development via the SRY Gene.

By PreventionGenetics PreventionGenetics in United States.

SRY
Specificity
100 %
Genes
34 %
Y Chromosome Detection.

By MGZ Medical Genetics Center in Germany.

SRY
Specificity
100 %
Genes
34 %
Y Chromosome Detection.

By Bioscientia GmbH Center for Human Genetics in Germany.

SRY
Specificity
100 %
Genes
34 %
Swyer syndrome.

By Praxis fuer Humangenetik Wien in Austria.

SRY
Specificity
100 %
Genes
34 %
Swyer syndrome.

By MedGene in Slovakia.

SRY
Specificity
100 %
Genes
34 %
SRY: SRY gene deletions analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SRY
Specificity
100 %
Genes
34 %
SRY: SRY gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SRY
Specificity
100 %
Genes
34 %
Y-Chromosome Analysis.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SRY
Specificity
100 %
Genes
34 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
34 %
46,XY complete gonadal dysgenesis.

By Bioarray in Spain.

SRY
Specificity
100 %
Genes
34 %
46XX Sex Reversal Type 1 , Sequencing SRY Gene.

By Reference Laboratory Genetics in Spain.

SRY
Specificity
100 %
Genes
34 %
46XY Sex Reversal Type 1 , Sequencing SRY Gene.

By Reference Laboratory Genetics in Spain.

SRY
Specificity
100 %
Genes
34 %
SRY-related 46,XY complete gonadal dysgenesis.

By Labor Dr. Wisplinghoff in Germany.

SRY
Specificity
100 %
Genes
34 %
Phosphorus Male Infertility Panel.

By Phosphorus Diagnostics LLC in United States.

AR, CFTR, SRY, LHCGR, FSHR, FSHB, DPY19L2, AURKC, CATSPER1, USP9Y
Specificity
10 %
Genes
34 %
Y-Chromosome: SRY Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SRY
Specificity
100 %
Genes
34 %

Alternate names

46,xx Sex Reversal 1; Srxx1 Is also known as 46,xx sex reversal, sry-positive, xx male, sry-positive, 46,xx testicular disorder of sex development, 46,xx gonadal dysgenesis, complete, sry-positive;46,xx ovotesticular dsd; true hermaphroditism.



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