Polydactyly / Polysyndactyly [170 genes]

Polydactyly is a congenital malformation with the presence of additional fingers or toes, while polysyndactyly is a combination of polydactyly (extra fingers/toes) and syndactyly (fused fingers/toes). Polysyndactyly may present as an extra finger/toe with a fusion either between two regular fingers or between a regular and an extra finger.

This panel allows determining whether this malformation has a genetic origin, as well as differentiating between syndromic and non-syndromic forms. It also allows estimating the risk of recurrence in the family and guiding genetic counseling, as well as defining potential associated comorbidities.

This panel is indicated upon suspicion of genetic etiology of a congenital malformation of limbs, with or without other associated anomalies.

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Polydactyly / Polysyndactyly

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Consentimiento*
Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202211912

Updated (dd/mm/yy): 01/10/2025

Polydactyly / Polysyndactyly: View panel
  • AKT3
  • ALX3
  • ARL6
  • ARMC9
  • B9D1
  • B9D2
  • BBIP1
  • BBS1
  • BBS10
  • BBS12
  • BBS2
  • BBS4
  • BBS5
  • BBS7
  • BBS9
  • BHLHA9
  • BLM
  • BMP2
  • BMP4
  • BMPR1B
  • C2CD3
  • CC2D2A
  • CCDC28B
  • CCND2
  • CCNQ
  • CD96
  • CDKN1C
  • CENPF
  • CEP120
  • CEP164
  • CEP290
  • CEP41
  • CFAP418
  • CIBAR1
  • CILK1
  • CKAP2L
  • COG6
  • COL2A1
  • CPLANE1
  • CPLANE2
  • CREBBP
  • CSPP1
  • DDX59
  • DHCR7
  • DYNC2H1
  • DYNC2I1
  • DYNC2I2
  • DYNC2LI1
  • DYNLT2B
  • EBP
  • EFNB1
  • EFTUD2
  • EVC
  • EVC2
  • FAM149B1
  • FBLN1
  • FGF10
  • FGF16
  • FGF4
  • FGFR1
  • FGFR2
  • FGFR3
  • FMN1
  • FRAS1
  • FREM2
  • GDF5
  • GDF6
  • GJA1
  • GLI1
  • GLI2
  • GLI3
  • GPC3
  • GRIP1
  • HMGB1
  • HNRNPK
  • HOXA13
  • HOXD13
  • HYLS1
  • IFT122
  • IFT140
  • IFT172
  • IFT27
  • IFT43
  • IFT52
  • IFT57
  • IFT80
  • IFT81
  • IHH
  • INPP5E
  • INTU
  • IQCE
  • KIAA0586
  • KIAA0753
  • KIAA0825
  • KIF7
  • LBR
  • LEF1
  • LMBR1
  • LRP4
  • LZTFL1
  • MAP3K20
  • MAPKAPK5
  • MAX
  • MBTPS2
  • MEGF8
  • MIPOL1
  • MKKS
  • MKS1
  • MYCN
  • NEK1
  • NOG
  • NPHP3
  • OFD1
  • PAX1
  • PDE3A
  • PDE6D
  • PIK3CA
  • PIK3R2
  • PITX1
  • PORCN
  • PRKACA
  • PRKACB
  • PUF60
  • RAB23
  • RAB34
  • RBBP8
  • RBM10
  • ROR2
  • RPGRIP1L
  • SALL1
  • SALL4
  • SC5D
  • SCNM1
  • SETBP1
  • SHH
  • SMO
  • SMOC1
  • STKLD1
  • SUFU
  • TBX3
  • TBX5
  • TCTN2
  • TCTN3
  • TFAP2A
  • TFAP2B
  • TMEM107
  • TMEM138
  • TMEM216
  • TMEM231
  • TMEM237
  • TMEM67
  • TP63
  • TRAF3IP1
  • TRIM32
  • TTC21B
  • TTC8
  • TWIST1
  • UBA2
  • UBE3B
  • UQCC2
  • WDPCP
  • WDR19
  • WDR35
  • WNT10B
  • WNT6
  • WNT7A
  • ZNF141
  • ZNF33A
  • ZRSR2
  • ZSWIM6

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

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