Syndactyly Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
12683 AKT3 81479,81479 Order Options and Pricing
ALDH1A3 81479,81479
ANKRD11 81479,81479
ARHGAP31 81479,81479
ASTN2 81479,81479
BBS4 81479,81479
BCO1 81479,81479
BCOR 81479,81479
BHLHA9 81479,81479
BMP4 81479,81479
BMPR1B 81479,81479
CACNA1C 81479,81479
CCNQ 81479,81479
CDH1 81406,81479
CDH11 81479,81479
CDH3 81479,81479
CEP55 81479,81479
CHST11 81479,81479
CHSY1 81479,81479
CHUK 81479,81479
CILK1 81479,81479
CKAP2L 81479,81479
CNOT2 81479,81479
COL2A1 81479,81479
CREBBP 81407,81406
CRIPT 81479,81479
DHCR7 81405,81479
DLX5 81479,81479
DLX6 81479,81479
DYNC2I1 81479,81479
EBP 81479,81479
EFNB1 81479,81479
EFTUD2 81479,81479
EP300 81479,81479
ESCO2 81479,81479
FAT1 81479,81479
FBLN1 81479,81479
FDFT1 81479,81479
FGF16 81479,81479
FGF8 81479,81479
FGFR1 81405,81479
FGFR2 81479,81479
FGFR3 81479,81479
FRAS1 81479,81479
FREM1 81479,81479
FREM2 81479,81479
GDF5 81479,81479
GJA1 81479,81479
GLI3 81479,81479
GNAS 81479,81479
GPC3 81479,81479
GREM1 81479,81479
GRHL2 81479,81479
GRIN2B 81479,81479
HOXA1 81479,81479
HOXA13 81479,81479
HOXD12 81479,81479
HOXD13 81479,81479
IHH 81479,81479
IRF6 81479,81479
KAT6A 81479,81479
KATNB1 81479,81479
KCTD1 81479,81479
KDM6A 81479,81479
KDM6B 81479,81479
KIAA1109 81479,81479
KIF7 81479,81479
KMT2D 81479,81479
LMBR1 81479,81479
LRP4 81479,81479
LRP5 81406,81479
MAB21L2 81479,81479
MAP3K20 81479,81479
MBL2 81479,81479
MED12 81479,81479
MEGF8 81479,81479
MEIS2 81479,81479
MIR17HG 81479,81479
MYCN 81479,81479
MYH8 81479,81479
NAA10 81479,81479
NECTIN4 81479,81479
NEDD4L 81479,81479
NIPBL 81479,81479
NOG 81479,81479
OFD1 81479,81479
PAX3 81479,81479
PDE3A 81479,81479
PDE4D 81479,81479
PHF6 81479,81479
PHGDH 81479,81479
PIK3CA 81479,81479
PIK3R2 81479,81479
PORCN 81479,81479
PPP1R12A 81479,81479
PTDSS1 81479,81479
RAB23 81479,81479
RAD21 81479,81479
RALGAPA1 81479,81479
RECQL4 81479,81479
RIPK4 81479,81479
ROR2 81479,81479
SALL1 81479,81479
SALL4 81479,81479
SBF1 81479,81479
SEM1 81479,81479
SF3B4 81479,81479
SHH 81479,81479
SLC25A24 81479,81479
SMARCAD1 81479,81479
SMC1A 81479,81479
SMC3 81479,81479
SMO 81479,81479
SMOC1 81479,81479
SOX9 81479,81479
SRCAP 81479,81479
TBX1 81479,81479
TCF12 81479,81479
TFAP2B 81479,81479
TNNT3 81479,81479
TP63 81479,81479
TWIST1 81404,81403
WASHC5 81407,81479
WDPCP 81479,81479
WDR37 81479,81479
WNT10B 81479,81479
WNT5A 81479,81479
YY1AP1 81479,81479
ZBTB18 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
12683Genes x (129)81479 81403, 81404, 81405, 81406, 81407, 81479 $1690 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Congenital syndactyly is defined as joined fingers or toes by soft tissue or by bone. It is one of the most common limb birth defects with an estimated incidence of 1 in 2,000 to 3,000 live births. This condition is caused by failed separation during embryonic development (Ahmed et al. 2017. PubMed ID: 29263957; Tonkin. 2009. PubMed ID: 19380059). It may manifest as an isolated (non-syndromic) case or as part of more than 300 syndromic conditions. Syndactyly can present unilateral/bilateral, finger/toe; complete or partial (Malik. 2012. PubMed ID: 22333904; Deng and Tan. 2015. PubMed ID: 26069458; Tonkin. 2009. PubMed ID: 19380059).

Molecular genetic testing is advantageous to establish an accurate diagnosis for individuals with a variety of syndactyly conditions. Co-features of many of these conditions may require medical attention.

Genetics

This panel includes genes associated with a variety of genetic syndactyly disorders that have been identified through literature, OMIM, and HGMD searches. The patterns of inheritance of the condition can be autosomal dominant (AD), autosomal recessive (AR) or X-linked (XL) (Al-Qattan. 2019. PubMed ID: 31637260). Examples include Split-hand/foot malformation (also known as ectrodactyly), FGFR2-related conditions (Apert syndrome, LADD syndrome, and Saethre-Chotzen syndrome), HOXD13-related Syndactyly, Robinow syndrome, TP63-related conditions, Lenz-Majewski hyperostotic dwarfism, Temtamy preaxial brachydactyly syndrome, Squalene synthase deficiency, Filippi syndrome, Roberts syndrome, Metacarpal 4-5 fusion, Bartsocas-Pappas syndrome, and Cenani-Lenz syndactyly syndrome.

See individual gene test descriptions for information on molecular biology of gene products, and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

In one study, pathogenic variants were found in 18% (36/199) of patients with a genetic etiology of congenital upper limb defects. Among them, 13/199 cases had a copy number variation at the chromosomal level, and 23/199 cases were found to have a pathogenic variant involving a single nucleotide substitution, or small deletion/insertion (Carli et al. 2013. PubMed ID: 24343878).

This test is able to detect both large copy number variation (large deletions and insertions) (CNV) as well as smaller sequence variants (SNVs) with high analytical sensitivity.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.2% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Patients with syndactyly should be considered.

Genes

Official Gene Symbol OMIM ID
AKT3 611223
ALDH1A3 600463
ANKRD11 611192
ARHGAP31 610911
ASTN2 612856
BBS4 600374
BCO1 605748
BCOR 300485
BHLHA9 615416
BMP4 112262
BMPR1B 603248
CACNA1C 114205
CCNQ 300708
CDH1 192090
CDH11 600023
CDH3 114021
CEP55 610000
CHST11 610128
CHSY1 608183
CHUK 600664
CILK1 612325
CKAP2L 616174
CNOT2 604909
COL2A1 120140
CREBBP 600140
CRIPT 604594
DHCR7 602858
DLX5 600028
DLX6 600030
DYNC2I1 615462
EBP 300205
EFNB1 300035
EFTUD2 603892
EP300 602700
ESCO2 609353
FAT1 600976
FBLN1 135820
FDFT1 184420
FGF16 300827
FGF8 600483
FGFR1 136350
FGFR2 176943
FGFR3 134934
FRAS1 607830
FREM1 608944
FREM2 608945
GDF5 601146
GJA1 121014
GLI3 165240
GNAS 139320
GPC3 300037
GREM1 603054
GRHL2 608576
GRIN2B 138252
HOXA1 142955
HOXA13 142959
HOXD12 142988
HOXD13 142989
IHH 600726
IRF6 607199
KAT6A 601408
KATNB1 602703
KCTD1 613420
KDM6A 300128
KDM6B 611577
KIAA1109 611565
KIF7 611254
KMT2D 602113
LMBR1 605522
LRP4 604270
LRP5 603506
MAB21L2 604357
MAP3K20 609479
MBL2 154545
MED12 300188
MEGF8 604267
MEIS2 601740
MIR17HG 609415
MYCN 164840
MYH8 160741
NAA10 300013
NECTIN4 609607
NEDD4L 606384
NIPBL 608667
NOG 602991
OFD1 300170
PAX3 606597
PDE3A 123805
PDE4D 600129
PHF6 300414
PHGDH 606879
PIK3CA 171834
PIK3R2 603157
PORCN 300651
PPP1R12A 602021
PTDSS1 612792
RAB23 606144
RAD21 606462
RALGAPA1 608884
RECQL4 603780
RIPK4 605706
ROR2 602337
SALL1 602218
SALL4 607343
SBF1 603560
SEM1 183600
SF3B4 605593
SHH 600725
SLC25A24 608744
SMARCAD1 612761
SMC1A 300040
SMC3 606062
SMO 601500
SMOC1 608488
SOX9 608160
SRCAP 611421
TBX1 602054
TCF12 600480
TFAP2B 601601
TNNT3 600692
TP63 603273
TWIST1 601622
WASHC5 610657
WDPCP 613580
WDR37 618586
WNT10B 601906
WNT5A 164975
YY1AP1 607860
ZBTB18 608433
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Acheiropody AR 200500
Achondrogenesis Type 2 AD 200610
Achondroplasia AD 100800
Acrocallosal Syndrome, Schinzel Type AR 200990
Acrocapitofemoral Dysplasia AR 607778
Acrodysostosis 2, with or without Hormone Resistance AD 614613
Acrofacial Dysostosis 1, Nager Type AD 154400
Acromesomelic Dysplasia Hunter Thompson Type AR 201250
Adams-Oliver Syndrome 1 AD 100300
ADULT Syndrome AD 103285
Al-Gazali-Bakalinova syndrome AR 607131
Alkuraya-Kucinskas syndrome AR 617822
Antley-Bixler Syndrome AD 207410
Apert Syndrome AD 101200
Arthrogryposis, distal, type 2B2 AD 618435
Arthrogryposis, Distal, Type 7 AD 158300
Atrioventricular Septal Defect AD 600309
Avascular Necrosis Of Femoral Head, Primary AD 608805
Baller-Gerold Syndrome AR 218600
Bardet-Biedl Syndrome 15 AR 615992
Bardet-Biedl Syndrome 4 AR 615982
Basan syndrome AD 129200
Bent bone dysplasia syndrome AD 614592
Bifid Nose With Or Without Anorectal And Renal Anomalies 608980
Blepharocheilodontic syndrome 1 AD 119580
Bone Mineral Density Quantitative Trait Locus 1 AD 601884
Borjeson-Forssman-Lehmann Syndrome XL 301900
Brachydactyly Type A1 AD 112500
Brachydactyly Type A2 AD 112600
Brachydactyly Type C AD 113100
Brachydactyly, type A1, C AR 615072
Brachydactyly, Type A1, D AD 616849
Brachydactyly, Type B1 AD 113000
Brachydactyly, Type B2 AD 611377
Brachydactyly, Type D AD 113200
Brachydactyly, Type E1 AD 113300
Brachydactyly-Syndactyly Syndrome 610713
Camptodactyly, Tall Stature, And Hearing Loss Syndrome AR 610474
Camptomelic Dysplasia AD 114290
Camptosynpolydactyly, Complex AR 607539
Carpenter Syndrome AR 201000
Carpenter Syndrome 2 AR 614976
Cervical Cancer 603956
CHAND syndrome AR 214350
Char Syndrome AD 169100
Charcot-Marie-Tooth Disease, Type 4B3 AR 615284
Chondrodysplasia Acromesomelic With Genital Anomalies AR 609441
Chondrodysplasia Punctata 2 X-Linked Dominant XL 302960
CLAPO syndrome, somatic 613089
Cleft palate, cardiac defects, and mental retardation AD 600987
CLOVE syndrome, somatic 612918
Cocoon Syndrome AR 613630
Congenital heart defects, hamartomas of tongue, and polysyndactyly AR 217085
Cornelia de Lange syndrome 1 AD 122470
Cornelia de Lange syndrome 2 XL 300590
Cornelia de Lange syndrome 3 AD 610759
Cornelia de Lange syndrome 4 AD 614701
Cowden syndrome 5 615108
Craniofacial Deafness Hand Syndrome AD 122880
Craniofrontonasal Dysplasia XL 304110
Craniometaphyseal dysplasia, autosomal recessive AR 218400
Craniosynostosis 3 AD 615314
Craniosynostosis, Type 1 AD 123100
Crouzon Syndrome AD 123500
Crouzon Syndrome With Acanthosis Nigricans AD 612247
Cryptophthalmos, unilateral or bilateral, isolated AR 123570
Curry-Jones syndrome, somatic mosaic 601707
Cushing's Symphalangism AD 185800
Cutis Gyrata Syndrome Of Beare And Stevenson AD 123790
Czech Dysplasia Metatarsal Type AD 609162
Duane-Radial Ray Syndrome AD 607323
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy AR 225280
Ectodermal Dysplasia-Syndactyly Syndrome 1 AR 613573
Ectodermal Dysplasia/Short Stature Syndrome AR 616029
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 AD 604292
Elsahy-Waters syndrome AR 211380
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness AD 132450
Erythrokeratodermia variabilis et progressiva 3 AD 617525
Feingold Syndrome 1 AD 164280
Feingold Syndrome 2 AD 614326
Fg Syndrome XL 305450
Fibular Hypoplasia And Complex Brachydactyly AR 228900
Filippi syndrome AR 272440
Floating-Harbor Syndrome AD 136140
Focal Dermal Hypoplasia XL 305600
Fontaine progeroid syndrome AD 612289
Fraser Syndrome AR 219000
Fraser Syndrome 2 AR 617666
Genitourinary and/or/brain malformation syndrome AD 618820
Grange syndrome AR 602531
Grebe Syndrome AR 200700
Greig Cephalopolysyndactyly Syndrome AD 175700
Hand Foot Uterus Syndrome AD 140000
Hartsfield syndrome AD 615465
Hay-Wells Syndrome AD 106260
Hydrolethalus Syndrome 2 AR 614120
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant AD 115300
Hypertension and Brachydactyly Syndrome AD 112410
Hypochondroplasia AD 146000
Hypoplastic Left Heart Syndrome AR 241550
Hypoplastic or Aplastic Tibia with Polydactyly AD 188740
Hypothalamic Hamartomas 241800
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies AD 618608
Ivic Syndrome AD 147750
Jackson-Weiss Syndrome AD 123150
Kabuki Syndrome 1 AD 147920
Kabuki Syndrome 2 XL 300867
Kallmann Syndrome 2 AD 147950
KBG Syndrome AD 148050
Klein-Waardenberg's Syndrome AR 148820
Kniest Dysplasia AD 156550
Lacrimoauriculodentodigital Syndrome AD 149730
Laurin-Sandrow Syndrome AD 135750
Legg-Calve-Perthes Disease AD 150600
Lenz Microphthalmia Syndrome XL 309800
Lenz-Majewski Hyperostotic Dwarfism AD 151050
Limb-Mammary Syndrome AD 603543
Lujan-Fryns Syndrome XL 309520
Mandibulofacial dysostosis, Guion-Almeida type AD 610536
Manitoba Oculotrichoanal Syndrome AR 248450
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome, Somatic 602501
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 AD 603387
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 AD 615937
MEND Syndrome XL 300960
Menke-Hennekam syndrome 1 618332
Menke-Hennekam syndrome 2 618333
Mental retardation, autosomal dominant 22 AD 612337
Mental retardation, autosomal dominant 32 AD 616268
Metacarpal 4-5 fusion XL 309630
Microphthalmia Syndromic 6 AD 607932
Microphthalmia With Limb Anomalies AR 206920
Microphthalmia/Coloboma and Skeletal Dysplasia Syndrome AR 615877
Muenke Syndrome AD 602849
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly AR 236500
Multiple Synostoses Syndrome 1 AD 186500
Multiple Synostoses Syndrome 2 AD 610017
Mungan syndrome AR 611376
Neu-Laxova syndrome 1 AR 256520
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities AD 618505
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation AR 618797
Neurooculocardiogenitourinary syndrome AD 618652
Oculodentodigital Dysplasia AD 164200
Oculodentodigital Dysplasia, Autosomal Recessive AR 257850
Oculofaciocardiodental Syndrome XL 300166
Ogden Syndrome XL 300855
OHDO Syndrome, X-linked; OHDOX XL 300895
Oral-Facial-Digital Syndrome XL 311200
Orofacial cleft 8 618149
Osteoarthritis Of Hip 612400
Osteoarthritis With Mild Chondrodysplasia AD 604864
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits AR 618167
Osteoglophonic Dysplasia AD 166250
Osteopetrosis Autosomal Dominant Type 1 AD 607634
Osteoporosis AD 166710
Osteoporosis With Pseudoglioma AR 259770
Pallister-Hall Syndrome AD 146510
Palmoplantar keratoderma with congenital alopecia AD 104100
Patent ductus arteriosus 2 AD 617035
Periventricular Nodular Heterotopia 7 AD 617201
Pfeiffer Syndrome AD 101600
Platyspondylic Lethal Skeletal Dysplasia Torrance Type AD 151210
Polydactyly Preaxial Type 4 AD 174700
Polydactyly, Postaxial, Type A1 AD 174200
Polydactyly, Preaxial II AD 174500
Popliteal pterygium syndrome 2, lethal type AR 263650
Preaxial Deficiency, Postaxial Polydactyly And Hypospadias AD 176305
Progressive Osseous Heteroplasia AD 166350
Rapadilino Syndrome AR 266280
Rapp-Hodgkin Ectodermal Dysplasia Syndrome AD 129400
Ritscher-Schinzel syndrome 1 AR 220210
Roberts Syndrome AR 268300
Roberts-SC Phocomelia Syndrome AR 269000
Robinow Syndrome AD 180700
Robinow Syndrome, Autosomal Recessive AR 268310
Robinow-Sorauf Syndrome AD 180750
Rothmund-Thomson Syndrome AR 268400
Rubinstein-Taybi Syndrome AD 180849
Rubinstein-Taybi Syndrome 2 AD 613684
SADDAN AD 616482
Saethre-Chotzen Syndrome AD 101400
Scalp-ear-nipple syndrome AD 181270
Scaphocephaly, Maxillary Retrusion, And Mental Retardation 609579
Sclerosteosis 2 AR 614305
Short stature with microcephaly and distinctive facies AR 615789
Short-Rib Thoracic Dysplasia 8 with or without Polydactyly AR 615503
Simpson-Golabi-Behmel Syndrome XL 312870
Simpson-Golabi-Behmel Syndrome, Type 2 XL 300209
Smith-Lemli-Opitz Syndrome AR 270400
Split-foot malformation with mesoaxial polydactyly AR 616890
Split-hand/foot malformation 1 with sensorineural hearing loss AR 220600
Split-Hand/Foot Malformation 4 AD 605289
Split-Hand/Foot Malformation 6 AR 225300
Spondyloepimetaphyseal Dysplasia Strudwick Type AD 184250
Spondyloepiphyseal Dysplasia Congenita AD 183900
Spondyloepiphyseal Sysplasia, Stanescu Type AD 616583
Spondyloperipheral Dysplasia AD 271700
Squalene synthase deficiency AR 618156
Stapes Ankylosis With Broad Thumb And Toes AD 184460
STAR Syndrome XL 300707
Stickler Syndrome Type 1 AD 108300
Stickler Syndrome, Type I, Nonsyndromic Ocular AD 609508
Sweeney-Cox syndrome AD 617746
Symphalangism, Proximal, 1B 615298
Syndactyly Cenani Lenz Type AR 212780
Syndactyly Type 3 AD 186100
Syndactyly Type 5 AD 186300
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction AR 609432
Syndactyly, Type IV AD 186200
Synpolydactyly 1 AD 186000
Synpolydactyly 2 AD 608180
Tarsal Carpal Coalition Syndrome AD 186570
Temtamy Preaxial Brachydactyly Syndrome AR 605282
Testicular Cancer 273300
Thanatophoric Dysplasia Type 1 AD 187600
Thanatophoric Dysplasia Type 2 AD 187601
Timothy Syndrome AD 601005
Tooth agenesis, selective, 8 AD 617073
Townes-Brocks Syndrome AD 107480
Trigonocephaly 2 AD 614485
Van Buchem Disease Type 2 AD 607636
Van Der Woude Syndrome AD 119300
Velocardiofacial Syndrome AD 192430
Waardenburg Syndrome Type 1 AD 193500
Worth Disease AD 144750

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