Polydactyly, Preaxial Iv

Description

Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.

Clinical Features

Phenotypes and symptoms related to Polydactyly, Preaxial Iv

  • Preaxial polydactyly
  • Abnormality of earlobe
  • 3-4 finger syndactyly
  • Dysplastic distal thumb phalanges with a central hole
  • 1-5 toe syndactyly

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Polydactyly, Preaxial Iv Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Overgrowth/Macrocephaly Panel.

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

PTEN, NSD1, PTCH1, CDKN1C, GPC3, PHF6, CUL4B, MED12, UPF3B, DNMT3A, NFIX, EZH2, RNF135, GLI3
Specificity
8 %
Genes
100 %
GLI3-related Disorders.

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

GLI3
Specificity
100 %
Genes
100 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Craniosynostosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

RECQL4, ALPL, FBN1, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, ASXL1, MASP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Macrocephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PTEN, NSD1, PTCH1, PHF6, CUL4B, MED12, UPF3B, NFIX, EZH2, GLI3, PIK3CA
Specificity
10 %
Genes
100 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

RAX, ABCB6, MFRP, OTX2, NHS, STRA6, HCCS, BCOR, SIX6, SOX2, PAX2, PORCN, COL4A1, TFAP2A, GLI3, GDF6, FOXE3, GJA1, RARB, VAX1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Macrocephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

PTEN, NSD1, GPC3, SETD2, OFD1, CUL4B, RAB39B, MED12, UPF3B, BRWD3, NFIX, EZH2, RNF135, GLI3, KPTN, HERC1, NFIA, RNF125, TBC1D7, HEPACAM , (...)

View the complete list with 1 more genes
Specificity
5 %
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
2 %
Genes
100 %
Macrocephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

PTEN, NSD1, GPC3, SETD2, OFD1, CUL4B, RAB39B, MED12, UPF3B, BRWD3, NFIX, EZH2, RNF135, GLI3, KPTN, HERC1, NFIA, RNF125, TBC1D7, HEPACAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Craniofacial Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Craniofacial Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
GLI3-Related Disorders (GLI3) Sequencing and Deletion/Duplication.

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

GLI3
Specificity
100 %
Genes
100 %
GLI3-related Disorders (GLI3) Deletion/Duplication.

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

GLI3
Specificity
100 %
Genes
100 %
GLI3-related disorders (GLI3) Sequencing.

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

GLI3
Specificity
100 %
Genes
100 %
Craniosynostosis.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

RECQL4, FGFR3, RUNX2, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, ASXL1, IFT43, IL11RA, IFT122 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
GLI3. Complete sequencing.

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

GLI3
Specificity
100 %
Genes
100 %
GLI3. MLPA testing.

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

GLI3
Specificity
100 %
Genes
100 %
Craniofacial Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Pallister-Hall Syndrome (deletion/duplication analysis of GLI3 gene).

By CGC Genetics in Portugal.

GLI3
Specificity
100 %
Genes
100 %
Pallister-Hall Syndrome (sequence analysis of GLI3 gene).

By CGC Genetics in Portugal.

GLI3
Specificity
100 %
Genes
100 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics in Portugal.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, SCARF2, ALX4, EFNB1, MASP1, IL11RA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Holoprosencephaly (NGS panel for 9 genes).

By CGC Genetics in Portugal.

SHH, PTCH1, FGF8, SIX3, TGIF1, ZIC2, CDON, GLI2, GLI3
Specificity
12 %
Genes
100 %
Pallister-Hall syndrome (sequence analysis of GLI3 gene).

By CGC Genetics in Portugal.

GLI3
Specificity
100 %
Genes
100 %
Pallister-Hall syndrome (sequence analysis of GLI3 gene).

By CGC Genetics in Portugal.

GLI3
Specificity
100 %
Genes
100 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, HNF1B, RET, PAX2, FGFR2, NIPBL, UMOD, SALL1, SIX5, SIX1, GATA3, MYH9, FOXP1, FAT4, GLI2, GLI3, SOX11, ACE, FREM1, BMP4 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
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
100 %
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
100 %
GLI3-Related Disorders via GLI3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GLI3
Specificity
100 %
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
1 %
Genes
100 %
Craniosynostosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis NGS panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Greig cephalopolysyndactyly syndrome NGS Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
100 %
Pallister-Hall syndrome Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
100 %
Greig cephalopolysyndactyly syndrome Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
100 %
Pallister-Hall syndrome NGS Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
100 %
Greig cephalopolysyndactyly syndrome Comprehensive Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
100 %
Polydactyly, preaxial IV & postaxial, type A1 Comprehensive Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
100 %
Polydactyly, preaxial IV & postaxial, type A1 NGS Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
100 %
Polydactyly, preaxial IV & postaxial, type A1 Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
100 %
Pallister-Hall syndrome Comprehensive Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Macrocephaly.

By MGZ Medical Genetics Center in Germany.

PTEN, ASPA, TSC2, TSC1, NSD1, PTCH1, CDKN1C, GPC3, MLC1, EIF2B5, L1CAM, WASHC5, SETD2, OFD1, GRIA3, SYN1, CUL4B, RAB39B, GFAP, MED12 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
Greig Cephalopolysyndactyly Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

GLI3
Specificity
100 %
Genes
100 %
Pallister-Hall syndrome.

By Centogene AG - the Rare Disease Company in Germany.

GLI3
Specificity
100 %
Genes
100 %
Holoprosencephaly panel.

By Centogene AG - the Rare Disease Company in Germany.

SHH, PTCH1, FGF8, SIX3, TGIF1, ZIC2, CDON, GLI2, GLI3
Specificity
12 %
Genes
100 %
Greig cephalopolysyndactyly syndrome.

By Centogene AG - the Rare Disease Company in Germany.

GLI3
Specificity
100 %
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 %
Single gene testing GLI3.

By CeGaT GmbH in Germany.

GLI3
Specificity
100 %
Genes
100 %
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
100 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH in Germany.

TRPV4, GLI3, TP63, BMPR1B, GJA1, HOXA11, ROR2, WNT7A, LRP4, HOXD13, PTHLH, GDF5, WNT10B, BMP2, BHLHA9, IHH, FBLN1, NOG, LMBR1, FGF16
Specificity
5 %
Genes
100 %
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
1 %
Genes
100 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Invitae GLI3-Related Disorders Test.

By Invitae in United States.

GLI3
Specificity
100 %
Genes
100 %
Invitae Craniosynostosis Panel.

By Invitae in United States.

FGFR3, FGFR2, FGFR1, RAB23, MSX2, TWIST1, GLI3, MEGF8, ERF
Specificity
12 %
Genes
100 %
Invitae Overgrowth and Macrocephaly Syndromes Panel.

By Invitae in United States.

PTEN, NSD1, CDKN1C, GPC3, NF1, SETD2, PHF6, CUL4B, MED12, SPRED1, DNMT3A, NFIX, EZH2, GLI3, AKT2, PIK3R2, AKT3, KPTN, DIS3L2, NPR2
Specificity
5 %
Genes
100 %
Pallister-Hall syndrome: GLI3 gene screening (exons 10-14).

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

GLI3
Specificity
100 %
Genes
100 %
Greig cephalopolysyndactyly syndrome: GLI3 gene sequence analysis.

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

GLI3
Specificity
100 %
Genes
100 %
Pallister-Hall syndrome: GLI3 gene sequence analysis.

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

GLI3
Specificity
100 %
Genes
100 %
Craniosysostosis.

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

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1
Specificity
6 %
Genes
100 %
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
100 %
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
100 %
Macrocephaly: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, NSD1, PTCH1, GPC3, PHF6, CUL4B, MED12, UPF3B, NFIX, EZH2, GLI3
Specificity
10 %
Genes
100 %
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
100 %
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
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
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
100 %
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
100 %
GLI3.

By Fulgent Genetics Fulgent Genetics in United States.

GLI3
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Holoprosencephaly Panel.

By Blueprint Genetics in Finland.

SHH, PTCH1, FGFR1, FGF8, SIX3, TGIF1, ZIC2, NODAL, FOXH1, CDON, GLI2, GLI3
Specificity
9 %
Genes
100 %
Macrocephaly / Overgrowth Syndrome Panel.

By Blueprint Genetics in Finland.

PTEN, ASPA, TSC2, TSC1, NSD1, PTCH1, CDKN1C, GPC3, MLC1, EIF2B5, L1CAM, WASHC5, SETD2, PIGA, OFD1, GRIA3, SYN1, CUL4B, RAB39B, GFAP , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Gastrointestinal Atresia Panel.

By Blueprint Genetics in Finland.

SOX2, FANCC, CHD7, DHCR7, MID1, FANCB, GLI3, EFTUD2, MYCN, RFX6, PTF1A, TTC7A, CLMP
Specificity
8 %
Genes
100 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, PAX3, EDNRB, SOX10, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, ALX4 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
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
100 %
Ciliopathy Panel.

By Blueprint Genetics in Finland.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, C8orf37, IQCB1, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
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
100 %
Pallister-Hall syndrome.

By Bioarray in Spain.

GLI3
Specificity
100 %
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
1 %
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
1 %
Genes
100 %
PALLISTER-HALL SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

GLI3
Specificity
100 %
Genes
100 %
POSTAXIAL POLYDACTYLY TYPES A/B.

By Laboratorio de Genetica Clinica SL in Spain.

GLI3
Specificity
100 %
Genes
100 %
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

GLI3
Specificity
100 %
Genes
100 %
Pallister-Hall Syndrome , Sequencing GLI3 Gene.

By Reference Laboratory Genetics in Spain.

GLI3
Specificity
100 %
Genes
100 %
Postaxial Polidactilia Type A1 and B , Sequencing GLI3 Gene.

By Reference Laboratory Genetics in Spain.

GLI3
Specificity
100 %
Genes
100 %
Greig Syndrome , Sequencing GLI3 Gene.

By Reference Laboratory Genetics in Spain.

GLI3
Specificity
100 %
Genes
100 %
Pallister-Hall Syndrome , Sequencing Exons (10-14) GLI3 Gene.

By Reference Laboratory Genetics in Spain.

GLI3
Specificity
100 %
Genes
100 %
Pallister-Hall Syndrome , Deletions-Duplications (MLPA) GLI3 Gene.

By Reference Laboratory Genetics in Spain.

GLI3
Specificity
100 %
Genes
100 %
Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

FGFR3, FGFR2, FGFR1, RAB23, POR, MSX2, TWIST1, GLI3, EFNB1
Specificity
12 %
Genes
100 %
Greig cephalopolysyndactyly syndrome.

By Labor Dr. Wisplinghoff in Germany.

GLI3
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 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %
Pallister-Hall Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GLI3
Specificity
100 %
Genes
100 %

Alternate names

Polydactyly, Preaxial Iv Is also known as polysyndactyly, uncomplicated;ppd4; preaxial polydactyly type 4.


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