Polydactyly Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
13051 AHI1 81407,81479 Order Options and Pricing
AKT3 81479,81479
ALX3 81479,81479
ALX4 81479,81479
ARHGAP31 81479,81479
ARL13B 81479,81479
ARL6 81479,81479
ARMC9 81479,81479
B9D1 81479,81479
B9D2 81479,81479
BBIP1 81479,81479
BBS1 81406,81479
BBS10 81404,81479
BBS12 81479,81479
BBS2 81406,81479
BBS4 81479,81479
BBS5 81479,81479
BBS7 81479,81479
BBS9 81479,81479
BHLHA9 81479,81479
BMP4 81479,81479
CANT1 81479,81479
CC2D2A 81479,81479
CCBE1 81479,81479
CCND2 81479,81479
CEP104 81479,81479
CEP120 81479,81479
CEP164 81479,81479
CEP290 81408,81479
CEP41 81479,81479
CHST11 81479,81479
CIBAR1 81479,81479
CILK1 81479,81479
CPLANE1 81479,81479
CSPP1 81479,81479
CTU2 81479,81479
DHCR7 81405,81479
DLL4 81479,81479
DLX5 81479,81479
DLX6 81479,81479
DOCK6 81479,81479
DYNC2H1 81479,81479
DYNC2I1 81479,81479
DYNC2I2 81479,81479
DYNC2LI1 81479,81479
DYNLT2B 81479,81479
EBP 81479,81479
EOGT 81479,81479
EVC 81479,81479
EVC2 81479,81479
FBLN1 81479,81479
FBN1 81408,81479
FBXW11 81479,81479
FGFR2 81479,81479
FLNA 81479,81479
FUZ 81479,81479
GDF5 81479,81479
GLI1 81479,81479
GLI2 81479,81479
GLI3 81479,81479
HOXD13 81479,81479
IFT122 81479,81479
IFT140 81479,81479
IFT172 81479,81479
IFT27 81479,81479
IFT43 81479,81479
IFT52 81479,81479
IFT74 81479,81479
IFT80 81479,81479
IFT81 81479,81479
IHH 81479,81479
INPP5E 81479,81479
INTU 81479,81479
IQCE 81479,81479
KATNIP 81479,81479
KIAA0586 81479,81479
KIAA0825 81479,81479
KIF14 81479,81479
KIF7 81479,81479
KMT2A 81479,81479
LMBR1 81479,81479
LZTFL1 81479,81479
MAP3K20 81479,81479
MIPOL1 81479,81479
MIR17HG 81479,81479
MKKS 81479,81479
MKS1 81479,81479
MSX1 81479,81479
MYCN 81479,81479
NEK1 81479,81479
NPHP1 81406,81405
NPHP3 81479,81479
OFD1 81479,81479
PAPSS2 81479,81479
PCNT 81479,81479
PDE6D 81479,81479
PDGFC 81479,81479
PIK3CA 81479,81479
PIK3R2 81479,81479
PITX1 81479,81479
PITX2 81479,81479
ROR2 81479,81479
RPGRIP1L 81479,81479
SALL1 81479,81479
SALL4 81479,81479
SCN1A 81407,81479
SDCCAG8 81479,81479
SETD5 81479,81479
SHH 81479,81479
SLC25A21 81479,81479
SLC26A2 81479,81479
SMO 81479,81479
SOX9 81479,81479
STAG2 81479,81479
STKLD1 81479,81479
TBX3 81479,81479
TCTN1 81479,81479
TCTN2 81479,81479
TCTN3 81479,81479
TMEM107 81479,81479
TMEM138 81479,81479
TMEM216 81479,81479
TMEM231 81479,81479
TMEM237 81479,81479
TMEM67 81407,81479
TNNT3 81479,81479
TRAF3IP1 81479,81479
TRAPPC6A 81479,81479
TRIM32 81479,81479
TTC21B 81479,81479
TTC26 81479,81479
TTC30B 81479,81479
TTC8 81479,81479
TWIST1 81404,81403
WDPCP 81479,81479
WDR19 81479,81479
WDR35 81479,81479
WNT10B 81479,81479
ZNF141 81479,81479
ZSWIM6 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
13051Genes x (140)81479 81403, 81404, 81405, 81406, 81407, 81408, 81479 $1630 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 polydactyly (also known as hyperdactyly or hexadactyly) is defined as extra fingers or toes. It is one of the most common limb birth defects with an estimated incidence of  1.6–10.7/1,000 or 0.3–3.6/1000 (one in 700–1,000 live births) (Umair et al. 2018. PubMed ID: 30459804; Malik. 2014. PubMed ID: 24020795; Ahmed et al. 2017. PubMed ID: 29263957). It is mainly a failure in the control of digit number at cellular and developmental levels (Malik. 2014. PubMed ID: 24020795). It may manifest isolated (non-syndromic) or as part of many syndromic conditions. Polydactyly can be further divided as preaxial (radial), central polydactyly (axial), and postaxial (ulnar) polydactyly (Umair et al. 2018. PubMed ID: 30459804; Malik. 2014. PubMed ID: 24020795).

Molecular genetic testing is advantageous to establish an accurate diagnosis for individuals with a variety of polydactyly conditions.

Genetics

This panel includes genes associated with polydactyly that have been identified through literature, OMIM, and HGMD searches. The patterns of inheritance can be autosomal dominant (AD), autosomal recessive (AR) or X-linked (XL) (Umair et al. 2018. PubMed ID: 30459804; Malik. 2014. PubMed ID: 24020795).

This panel tests for many congenital non-syndromic and syndromic related polydactyly conditions such as GLI3-related conditions, GLI1-related polydactyly,  HOXD13-related polydactyly, Joubert syndrome, Orofaciodigital syndrome, DHCR7-related Smith-Lemli-Opitz syndrome, Short-rib thoracic dysplasia 3 with or without polydactyly, LADD syndrome, and Acrocallosal 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 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 98.9% 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 polydactyly should be considered.

Genes

Official Gene Symbol OMIM ID
AHI1 608894
AKT3 611223
ALX3 606014
ALX4 605420
ARHGAP31 610911
ARL13B 608922
ARL6 608845
ARMC9 617612
B9D1 614144
B9D2 611951
BBIP1 613605
BBS1 209901
BBS10 610148
BBS12 610683
BBS2 606151
BBS4 600374
BBS5 603650
BBS7 607590
BBS9 607968
BHLHA9 615416
BMP4 112262
CANT1 613165
CC2D2A 612013
CCBE1 612753
CCND2 123833
CEP104 616690
CEP120 613446
CEP164 614848
CEP290 610142
CEP41 610523
CHST11 610128
CIBAR1 617273
CILK1 612325
CPLANE1 614571
CSPP1 611654
CTU2 617057
DHCR7 602858
DLL4 605185
DLX5 600028
DLX6 600030
DOCK6 614194
DYNC2H1 603297
DYNC2I1 615462
DYNC2I2 613363
DYNC2LI1 617083
DYNLT2B 617353
EBP 300205
EOGT 614789
EVC 604831
EVC2 607261
FBLN1 135820
FBN1 134797
FBXW11 605651
FGFR2 176943
FLNA 300017
FUZ 610622
GDF5 601146
GLI1 165220
GLI2 165230
GLI3 165240
HOXD13 142989
IFT122 606045
IFT140 614620
IFT172 607386
IFT27 615870
IFT43 614068
IFT52 617094
IFT74 608040
IFT80 611177
IFT81 605489
IHH 600726
INPP5E 613037
INTU 610621
IQCE 617631
KATNIP 616650
KIAA0586 610178
KIAA0825 617266
KIF14 611279
KIF7 611254
KMT2A 159555
LMBR1 605522
LZTFL1 606568
MAP3K20 609479
MIPOL1 606850
MIR17HG 609415
MKKS 604896
MKS1 609883
MSX1 142983
MYCN 164840
NEK1 604588
NPHP1 607100
NPHP3 608002
OFD1 300170
PAPSS2 603005
PCNT 605925
PDE6D 602676
PDGFC 608452
PIK3CA 171834
PIK3R2 603157
PITX1 602149
PITX2 601542
ROR2 602337
RPGRIP1L 610937
SALL1 602218
SALL4 607343
SCN1A 182389
SDCCAG8 613524
SETD5 615743
SHH 600725
SLC25A21 607571
SLC26A2 606718
SMO 601500
SOX9 608160
STAG2 300826
STKLD1 618530
TBX3 601621
TCTN1 609863
TCTN2 613846
TCTN3 613847
TMEM107 616183
TMEM138 614459
TMEM216 613277
TMEM231 614949
TMEM237 614423
TMEM67 609884
TNNT3 600692
TRAF3IP1 607380
TRAPPC6A 610396
TRIM32 602290
TTC21B 612014
TTC26 617453
TTC30B 0
TTC8 608132
TWIST1 601622
WDPCP 613580
WDR19 608151
WDR35 613602
WNT10B 601906
ZNF141 194648
ZSWIM6 615951
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Acheiropody AR 200500
Achondrogenesis, Type Ib AR 600972
Acrocallosal Syndrome, Schinzel Type AR 200990
Acrocapitofemoral Dysplasia AR 607778
Acromelic frontonasal dysostosis AD 603671
Acromesomelic Dysplasia Hunter Thompson Type AR 201250
Acromicric Dysplasia AD 102370
Adams-Oliver Syndrome 1 AD 100300
Adams-Oliver Syndrome 2 AR 614219
Adams-Oliver Syndrome 4 AR 615297
Adams-Oliver Syndrome 6 AD 616589
Al-Gazali-Bakalinova syndrome AR 607131
Amyotrophic lateral sclerosis, susceptibility to, 24 AD 617892
Antley-Bixler Syndrome AD 207410
Apert Syndrome AD 101200
Arthrogryposis, distal, type 2B2 AD 618435
Atelosteogenesis, Type II AR 256050
Bardet-Biedl Syndrome 1 AR 209900
Bardet-Biedl Syndrome 10 AR 615987
Bardet-Biedl Syndrome 11 AR 615988
Bardet-Biedl Syndrome 12 AR 615989
Bardet-Biedl Syndrome 13 AR 615990
Bardet-Biedl Syndrome 14 AR 615991
Bardet-Biedl Syndrome 15 AR 615992
Bardet-Biedl Syndrome 16 AR 615993
Bardet-Biedl Syndrome 17 AR 615994
Bardet-Biedl Syndrome 18 AR 615995
Bardet-Biedl Syndrome 19 AR 615996
Bardet-Biedl Syndrome 2 AR 615981
Bardet-Biedl Syndrome 20 AR 617119
Bardet-Biedl Syndrome 3 AR 600151
Bardet-Biedl Syndrome 4 AR 615982
Bardet-Biedl Syndrome 5 AR 615983
Bardet-Biedl Syndrome 6 AR 605231
Bardet-Biedl Syndrome 7 AR 615984
Bardet-Biedl Syndrome 8 AR 615985
Bardet-Biedl Syndrome 9 AR 615986
Basal Cell Carcinoma, Multiple 605462
Bent bone dysplasia syndrome AD 614592
Brachydactyly Type A1 AD 112500
Brachydactyly Type A2 AD 112600
Brachydactyly Type C AD 113100
Brachydactyly, type A1, C AR 615072
Brachydactyly, Type B1 AD 113000
Brachydactyly, Type D AD 113200
Brachydactyly, Type E1 AD 113300
Brachydactyly-Syndactyly Syndrome 610713
Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes AR 612847
Camptomelic Dysplasia AD 114290
Camptosynpolydactyly, Complex AR 607539
Cardiac Valvular Dysplasia, X-Linked XL 314400
Centronuclear myopathy 6 with fiber-type disproportion AR 617760
Chondrodysplasia Punctata 2 X-Linked Dominant XL 302960
CLAPO syndrome, somatic 613089
CLOVE syndrome, somatic 612918
COACH Syndrome AR 216360
Congenital heart defects, hamartomas of tongue, and polysyndactyly AR 217085
Cranioectodermal Dysplasia AR 218330
Cranioectodermal Dysplasia 2 AR 613610
Cranioectodermal Dysplasia 3 AR 614099
Cranioectodermal Dysplasia 4 AR 614378
Craniosynostosis 5, Susceptibility to AD 615529
Craniosynostosis, Type 1 AD 123100
Crouzon Syndrome AD 123500
Culler-Jones Syndrome AD 615849
Curry-Jones syndrome, somatic mosaic 601707
Cutis Gyrata Syndrome Of Beare And Stevenson AD 123790
Desbuquois Syndrome AR 251450
Diastrophic Dysplasia AR 222600
Duane-Radial Ray Syndrome AD 607323
Ectodermal Dysplasia 3, Witkop Type AD 189500
Ellis-van Creveld Syndrome AR 225500
Epiphyseal dysplasia, multiple, 7 AR 617719
Familial Hemiplegic Migraine Type 3 AD 609634
Feingold Syndrome 1 AD 164280
Feingold Syndrome 2 AD 614326
FG Syndrome 2 XL 300321
Fibular Hypoplasia And Complex Brachydactyly AR 228900
Frontometaphyseal Dysplasia XL 305620
Frontonasal Dysplasia AR 136760
Frontonasal Dysplasia 2 AR 613451
Geleophysic Dysplasia 2 AD 614185
Generalized Epilepsy With Febrile Seizures Plus, Type 2 AD 604403
Grebe Syndrome AR 200700
Greig Cephalopolysyndactyly Syndrome AD 175700
Hennekam Syndrome AR 235510
Holoprosencephaly 3 AD 142945
Holoprosencephaly 9 AD 610829
Hydrolethalus Syndrome 2 AR 614120
Hypoplastic or Aplastic Tibia with Polydactyly AD 188740
Hypothalamic Hamartomas 241800
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked XL 300048
Ivic Syndrome AD 147750
Jackson-Weiss Syndrome AD 123150
Joubert Syndrome AR 614615
Joubert Syndrome 1 AR 213300
Joubert Syndrome 10 XL 300804
Joubert Syndrome 13 AR 614173
Joubert syndrome 14 AR 614424
Joubert syndrome 15 AR 614464
Joubert syndrome 16 AR 614465
Joubert syndrome 18 AR 614815
Joubert Syndrome 2 AR 608091
Joubert syndrome 20 AR 614970
Joubert Syndrome 21 AR 615636
Joubert Syndrome 22 AR 615665
Joubert Syndrome 23 AR 616490
Joubert Syndrome 24 AR 616654
Joubert Syndrome 25 AR 616781
Joubert Syndrome 27 AR 617120
Joubert Syndrome 28 AR 617121
Joubert Syndrome 3 AR 608629
Joubert Syndrome 30 AR 617622
Joubert Syndrome 31 AR 617761
Joubert Syndrome 4 AR 609583
Joubert Syndrome 5 AR 610188
Joubert Syndrome 6 AR 610688
Joubert Syndrome 7 AR 611560
Joubert Syndrome 8 AR 612291
Joubert Syndrome 9 AR 612285
Lacrimoauriculodentodigital Syndrome AD 149730
Laurin-Sandrow Syndrome AD 135750
Liebenberg Syndrome AD 186550
Macrodactyly, somatic 155500
Marfan lipodystrophy syndrome AD 616914
Marfan Syndrome AD 154700
Mass Syndrome AD 604308
Mckusick Kaufman Syndrome AR 236700
Meckel Syndrome 1 AR 249000
Meckel Syndrome 10 AR 614175
Meckel syndrome 11 AR 615397
Meckel Syndrome 12 AR 616258
Meckel Syndrome 13 AR 617562
Meckel Syndrome 2 AR 603194
Meckel Syndrome 3 AR 607361
Meckel Syndrome 4 AR 611134
Meckel Syndrome 5 AR 611561
Meckel Syndrome 6 AR 612284
Meckel Syndrome 7 AR 267010
Meckel Syndrome 8 AR 613885
Meckel Syndrome 9 AR 614209
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome, Somatic 602501
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 AD 603387
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 AD 615937
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 AD 615938
Melnick-Needles Syndrome XL 309350
MEND Syndrome XL 300960
Mental Retardation, Autosomal Dominant 23 AD 615761
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 AR 210720
Microcephaly 20, primary, autosomal recessive AR 617914
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome AR 618142
Microphthalmia Syndromic 6 AD 607932
Microphthalmia, Isolated, With Coloboma 5 AD 611638
Mitochondrial DNA depletion syndrome 18 AR 618811
Multiple Epiphyseal Dysplasia 4 AR 226900
Multiple Synostoses Syndrome 2 AD 610017
Nephronophthisis 15 AR 614845
Neural Tube Defects AD 182940
Neurodevelopmental disorder, X-linked, with craniofacial abnormalities XL 301022
Neurodevelopmental, jaw, eye, and digital syndrome 618914
Oral-Facial-Digital Syndrome XL 311200
Orofacial Cleft 11 600625
Orofacial Cleft 5 608874
Orofaciodigital Syndrome IV AR 258860
Orofaciodigital syndrome VI AR 277170
Orofaciodigital Syndrome XVI AR 617563
Orofaciodigital syndrome XVII AR 617926
Osteoarthritis Of Hip 612400
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits AR 618167
Oto-Palato-Digital Syndrome Type 1 XL 311300
Oto-Palato-Digital Syndrome, Type II XL 304120
Pallister-Hall Syndrome AD 146510
Parietal Foramina 2 AD 609597
Pfeiffer Syndrome AD 101600
Polydactyly Preaxial Type 4 AD 174700
Polydactyly, Postaxial, Type A1 AD 174200
Polydactyly, postaxial, type A10 AR 618498
Polydactyly, postaxial, type A6 AR 615226
Polydactyly, postaxial, type A7 AR 617642
Polydactyly, postaxial, type A8 AR 618123
Polydactyly, postaxial, type A9 AR 618219
Polydactyly, preaxial I AR 174400
Polydactyly, Preaxial II AD 174500
RHYNS syndrome AR 602152
Robinow Syndrome, Autosomal Recessive AR 268310
Robinow-Sorauf Syndrome AD 180750
Saethre-Chotzen Syndrome AD 101400
Scaphocephaly, Maxillary Retrusion, And Mental Retardation 609579
Schizencephaly 269160
Senior-Loken Syndrome 6 AR 610189
Senior-Loken Syndrome 7 613615
Senior-Loken Syndrome 8 AR 616307
Senior-Loken syndrome 9 AR 616629
Severe Myoclonic Epilepsy In Infancy AD 607208
Short-Rib Thoracic Dysplasia 10 with or without Polydactyly AR 615630
Short-Rib Thoracic Dysplasia 13 with or without Polydactyly AR 616300
Short-rib thoracic dysplasia 14 with polydactyly AR 616546
Short-rib thoracic dysplasia 15 with polydactyly AR 617088
Short-rib thoracic dysplasia 16 with or without polydactyly AR 617102
Short-rib thoracic dysplasia 18 with polydactyly AR 617866
Short-rib thoracic dysplasia 19 with or without polydactyly AR 617895
Short-Rib Thoracic Dysplasia 2 with or without Polydactyly AR 611263
Short-rib thoracic dysplasia 20 with polydactyly AR 617925
Short-Rib Thoracic Dysplasia 3 with or without Polydactyly AR 613091
Short-Rib Thoracic Dysplasia 4 with or without Polydactyly AR 613819
Short-Rib Thoracic Dysplasia 5 with or without Polydactyly AR 614376
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly AR 263520
Short-Rib Thoracic Dysplasia 7 with or without Polydactyly AR 614091
Short-Rib Thoracic Dysplasia 8 with or without Polydactyly AR 615503
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly AR 266920
Simpson-Golabi-Behmel Syndrome, Type 2 XL 300209
Single Upper Central Incisor AD 147250
Smith-Lemli-Opitz Syndrome AR 270400
Split-foot malformation with mesoaxial polydactyly AR 616890
Split-hand/foot malformation 1 AD 183600
Split-hand/foot malformation 1 with sensorineural hearing loss AR 220600
Split-Hand/Foot Malformation 6 AR 225300
Stiff Skin Syndrome AD 184900
Sweeney-Cox syndrome AD 617746
Symphalangism, Proximal, 1B AD 615298
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
Talipes Equinovarus AD 119800
Terminal Osseous Dysplasia XL 300244
Tooth Agenesis, Selective, 1 AD 106600
Townes-Brocks Syndrome AD 107480
Ulnar-Mammary Syndrome AD 181450
Weill-Marchesani Syndrome 2 AD 608328
Weyers Acrofacial Dysostosis AD 193530
Wiedemann-Steiner Syndrome AD 605130
X-Linked Periventricular Heterotopia XL 300049

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Citations

Ordering/Specimens

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