Hypospadias 1, X-linked; Hysp1

Description

Hypospadias is a common congenital malformation of the penis, affecting approximately 1 in 750 births in Europe. Due to developmental arrest of urethral fusion, the urethral opening is displaced along the ventral side of the penis. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Although most children with this condition undergo surgery in their second year of life, serious medical, social, and sexual problems may still exist later in life (summary by van der Zanden et al., 2011). Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome (OMIM ) and Opitz syndrome (OMIM ). Genetic Heterogeneity of HypospadiasSee also HYSP2 (OMIM ), caused by mutation in the MAMLD1 gene (OMIM ) on chromosome Xq28; HYSP3 (OMIM ), a familial form which has been mapped to chromosome 7q32.2-q36.1; and HYSP4 (OMIM ), a susceptibility locus mapped to chromosome Xp11.22 and associated with variation in the DGKK gene (OMIM ).

Clinical Features

Phenotypes and symptoms related to Hypospadias 1, X-linked; Hysp1

  • Hypospadias
  • Perineal hypospadias

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Hypospadias 1, X-linked; Hysp1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
8 %
Genes
100 %
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
4 %
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
8 %
Genes
100 %
Hypospadias 2, X-linked (sequence analysis of MAMLD1 gene).

By CGC Genetics in Portugal.

MAMLD1
Specificity
100 %
Genes
50 %
Congenital myopathy (NGS panel of 19 genes).

By CGC Genetics in Portugal.

NEB, DNM2, MYH7, FHL1, SELENON, RYR1, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, MYF6, MTMR14, MAMLD1
Specificity
6 %
Genes
50 %
Congenital myopathy (NGS panel of 19 genes).

By CGC Genetics in Portugal.

NEB, DNM2, MYH7, FHL1, SELENON, RYR1, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, MYF6, MTMR14, MAMLD1
Specificity
6 %
Genes
50 %
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
2 %
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
2 %
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
1 %
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 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Hypospadias 2, X-linked.

By Centogene AG - the Rare Disease Company in Germany.

MAMLD1
Specificity
100 %
Genes
50 %
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
5 %
Genes
100 %
MAMLD1.

By Fulgent Genetics Fulgent Genetics in United States.

MAMLD1
Specificity
100 %
Genes
50 %
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
2 %
Genes
100 %
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
5 %
Genes
100 %
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 %
FAMILIAL HYPOSPADIAS.

By Laboratorio de Genetica Clinica SL in Spain.

AR, MAMLD1
Specificity
100 %
Genes
100 %
X-Linked Familial Hypospadias , Panel Massive Sequencing (NGS) AR, MAMLD1 Genes.

By Reference Laboratory Genetics in Spain.

AR, MAMLD1
Specificity
100 %
Genes
100 %
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
100 %
AR Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

AR
Specificity
100 %
Genes
50 %
AR Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

AR
Specificity
100 %
Genes
50 %
AR Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

AR
Specificity
100 %
Genes
50 %
Kennedy's Disease (SBMA) DNA Test.

By Athena Diagnostics Inc in United States.

AR
Specificity
100 %
Genes
50 %
X-Inactivation Studies.

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

AR
Specificity
100 %
Genes
50 %
Kennedy disease.

By Center for Human Genetics, Inc in United States.

AR
Specificity
100 %
Genes
50 %
Androgen Insensitiviy.

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

AR
Specificity
100 %
Genes
50 %
Kennedy's Syndrome PCR.

By Molecular Pathology Laboratory Ohio State University in United States.

AR
Specificity
100 %
Genes
50 %
Spinal bulbar muscular atrophy.

By Molecular Genetics Laboratory North York General Hospital in Canada.

AR
Specificity
100 %
Genes
50 %
Androgen Insensitivity Syndrome - AR Sequencing.

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

AR
Specificity
100 %
Genes
50 %
Androgen Insensitivity Syndrome - AR Del/Dup Analysis.

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

AR
Specificity
100 %
Genes
50 %
Test for Spinal and Bulbar Muscular Atrophy.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

AR
Specificity
100 %
Genes
50 %
Androgen Insensitivity Syndrome.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

AR
Specificity
100 %
Genes
50 %
Kennedy disease.

By Molecular Diagnostic Laboratory Diagnostic Services of Manitoba, Health Sciences Centre site in Canada.

AR
Specificity
100 %
Genes
50 %
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
2 %
Genes
50 %
X Chromosome Inactivation.

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

AR
Specificity
100 %
Genes
50 %
X-Inactivation.

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

AR
Specificity
100 %
Genes
50 %
AR Gene Sequencing.

By GeneDx in United States.

AR
Specificity
100 %
Genes
50 %
Spinal and Bulbar Muscular Atrophy.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

AR
Specificity
100 %
Genes
50 %
Androgen Insensitivity Syndrome.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

AR
Specificity
100 %
Genes
50 %
Androgen receptor (AR) gene CAG triplet repeat test.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus.

AR
Specificity
100 %
Genes
50 %
AR. CAG expansion detection by PCR.

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

AR
Specificity
100 %
Genes
50 %
AR. Complete sequencing.

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

AR
Specificity
100 %
Genes
50 %
Androgen Insensitivity Syndrome (deletion/duplication analysis of AR gene).

By CGC Genetics in Portugal.

AR
Specificity
100 %
Genes
50 %
Kennedy disease (SBMA, CAG expansion on AR gene).

By CGC Genetics in Portugal.

AR
Specificity
100 %
Genes
50 %
Androgen insensitivity syndrome (sequence analysis of AR gene).

By CGC Genetics in Portugal.

AR
Specificity
100 %
Genes
50 %
Androgen insensitivity syndrome (AIS).

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

AR
Specificity
100 %
Genes
50 %
X-linked Spinal and Bulbar Muscular Atrophy (Kennedy Disease) via the AR Gene CAG Repeat Expansion.

By PreventionGenetics PreventionGenetics in United States.

AR
Specificity
100 %
Genes
50 %
Androgen Insensitivity Syndrome (AIS) via Androgen Receptor (AR) Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AR
Specificity
100 %
Genes
50 %
Androgen Insensitivity Syndrome.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

AR
Specificity
100 %
Genes
50 %
Spinobulbar Muscular Dystrophy.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

AR
Specificity
100 %
Genes
50 %
X-Chromosome Inactivation Studies.

By MGZ Medical Genetics Center in Germany.

AR
Specificity
100 %
Genes
50 %
Spinal and Bulbar Muscular Atrophy.

By MGZ Medical Genetics Center in Germany.

AR
Specificity
100 %
Genes
50 %
Spinal bulbar muscular atrophy, Kennedy syndrome.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

AR
Specificity
100 %
Genes
50 %
Ataxia (AD/AR) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

PRKCG, AFG3L2, FXN, APTX, AR, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP, SETX, KCNA1, KCNC3, PDYN, FGF14
Specificity
7 %
Genes
50 %
Androgen insensitivity.

By Centogene AG - the Rare Disease Company in Germany.

AR
Specificity
100 %
Genes
50 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
50 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

VHL, APC, MLH1, PTEN, TP53, RB1, RET, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, TSC1, ALK, ATM , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Spinal and bulbar muscular atrophy X-linked.

By Centogene AG - the Rare Disease Company in Germany.

AR
Specificity
100 %
Genes
50 %
Prostate Cancer Panel.

By CeGaT GmbH in Germany.

BRCA1, BRCA2, ELAC2, RNASEL, ZFHX3, AR, CDH1, CHEK2, HOXB13, BTNL2, MSR1, MXI1, CD82
Specificity
8 %
Genes
50 %
Single gene testing AR.

By CeGaT GmbH in Germany.

AR
Specificity
100 %
Genes
50 %
Androgen insensitivity syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

AR
Specificity
100 %
Genes
50 %
Androgen Insensitivity Syndrome, AR.

By GGA - Galil Genetic Analysis in Israel.

AR
Specificity
100 %
Genes
50 %
Spinal and Bulbar Muscular Atrophy (AR, SBMA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

AR
Specificity
100 %
Genes
50 %
Androgen Insensitivity Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

AR
Specificity
100 %
Genes
50 %
SBMA (Kennedy disease).

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

AR
Specificity
100 %
Genes
50 %
Trinucleotide repeat analysis (AR) and risk assessment.

By Molecular Diagnosis Centre National University Hospital in Singapore.

AR
Specificity
100 %
Genes
50 %
Androgen receptor mutation - Ex 1-3.

By Molecular Diagnosis Centre National University Hospital in Singapore.

AR
Specificity
100 %
Genes
50 %
Androgen receptor (AR) mutation - confirmation, Ex 4-8.

By Molecular Diagnosis Centre National University Hospital in Singapore.

AR
Specificity
100 %
Genes
50 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
50 %
Invitae Androgen Insensitivity Panel.

By Invitae in United States.

AR, SRD5A2
Specificity
50 %
Genes
50 %
Invitae Disorders of Male Sex Development Panel.

By Invitae in United States.

WT1, AR, SRY, NR0B1, NR5A1, SRD5A2, DHH, MAP3K1
Specificity
13 %
Genes
50 %
Androgen insensitivity syndrome: AR gene sequence analysis.

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

AR
Specificity
100 %
Genes
50 %
Spinal and bulbarmuscular atrophy (SBMA): AR gene CAG, expansion analysis.

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

AR
Specificity
100 %
Genes
50 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
50 %
AR.

By Fulgent Genetics Fulgent Genetics in United States.

AR
Specificity
100 %
Genes
50 %
Focus::Oncomine™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, CTNNB1, MTOR, ERBB3, KIT, JAK3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Complete androgen insensitivity syndrome.

By Bioarray in Spain.

AR
Specificity
100 %
Genes
50 %
Kennedy disease.

By Bioarray in Spain.

AR
Specificity
100 %
Genes
50 %
Kennedy disease.

By Bioarray in Spain.

AR
Specificity
100 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
50 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
50 %
Genitourinary Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, VHL, MLH1, PTEN, TP53, PPARG, FGFR3, AR, BRAF, CREBBP, HRAS, NRAS, FGFR2, TSC2, TSC1, ATM, PTCH1, CDKN2A, MET , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
50 %
Guardant360.

By Guardant Health in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
50 %
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
50 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
50 %
ANDROGEN INSENSITIVITY SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

AR
Specificity
100 %
Genes
50 %
REIFENSTEIN SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

AR
Specificity
100 %
Genes
50 %
SPINOBULBAR MUSCULAR ATROPHY (KENNEDY DISEASE).

By Laboratorio de Genetica Clinica SL in Spain.

AR
Specificity
100 %
Genes
50 %
Solid Tumor Targeted Mutation and Fusion Panel.

By Providence Regional Laboratories Providence Health and Services in United States.

PPARG, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, NTRK1, FGFR1, CTNNB1, MTOR , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Androgen Insensitivity Syndrome, Sequencing AR Gene.

By Reference Laboratory Genetics in Spain.

AR
Specificity
100 %
Genes
50 %
Androgen Insensitivity Syndrome, Deletions-Duplications (MLPA) AR Gene.

By Reference Laboratory Genetics in Spain.

AR
Specificity
100 %
Genes
50 %
Familial Prostate Cancer , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

BRCA1, BRCA2, EPCAM, ELAC2, RNASEL, ZFHX3, AR, NBN, CDH1, CHEK2, MSR1
Specificity
10 %
Genes
50 %
Androgen resistance syndrome.

By Labor Dr. Wisplinghoff in Germany.

AR
Specificity
100 %
Genes
50 %
Phosphorus Male Infertility Panel.

By Phosphorus Diagnostics LLC in United States.

AR, CFTR, SRY, LHCGR, FSHR, FSHB, DPY19L2, AURKC, CATSPER1, USP9Y
Specificity
10 %
Genes
50 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
50 %
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
50 %
CEN4GEN Prostate cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

APC, PTEN, TP53, RB1, ZFHX3, AR, CDKN2A, KMT2D, MED12, AKAP9, CDKN1B, PIK3CA, TBX20, SCN11A, CDK12, MYC, GLI1, KLF6, NIPA2, NKX3-1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Male infertility genetic testing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

AR, CFTR, LHCGR, FSHR, CATSPER1
Specificity
20 %
Genes
50 %
Nonsyndromic disorders of sexual development: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

STAR, HSD3B2, CYP11A1, CYP17A1, AR, LHCGR, ANOS1, POR, HSD17B3, SRD5A2, AKR1C2, CBX2
Specificity
9 %
Genes
50 %

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PERRAULT SYNDROME 3; PRLTS3 LACTOSE INTOLERANCE, ADULT TYPE