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Cleft Lip/Cleft Palate Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
ABCA12 81479,81479
ACACB 81479,81479
ACBD5 81479,81479
ACSS2 81479,81479
ACTC1 81405,81479
ADH7 81479,81479
AHDC1 81479,81479
ALX1 81479,81479
AMELX 81479,81479
AMER1 81479,81479
ANOS1 81406,81479
ARCN1 81479,81479
ARHGAP29 81479,81479
ARID5B 81479,81479
BMP2 81479,81479
BMP4 81479,81479
CADPS 81479,81479
CBFB 81479,81479
CDH1 81406,81479
CDH19 81479,81479
CDKN1C 81479,81479
CDON 81479,81479
CFAP57 81479,81479
CFDP1 81479,81479
CHD7 81407,81479
CHN2 81479,81479
CHRNA7 81479,81479
CLPTM1 81479,81479
CLPTM1L 81479,81479
COG5 81479,81479
COL11A1 81479,81479
COL11A2 81479,81479
COL2A1 81479,81479
COL9A1 81479,81479
COL9A2 81479,81479
COL9A3 81479,81479
COLEC10 81479,81479
COLEC11 81479,81479
CRISPLD2 81479,81479
CRYZ 81479,81479
CTNND1 81479,81479
DAB1 81479,81479
DEAF1 81479,81479
DENND4B 81479,81479
DHCR7 81405,81479
DHODH 81479,81479
DLG1 81479,81479
DLX4 81479,81479
DVL3 81479,81479
EFTUD2 81479,81479
ESCO2 81479,81479
ESRP2 81479,81479
EVC2 81479,81479
EYA1 81406,81405
FAM20C 81479,81479
FBLN1 81479,81479
FGD1 81479,81479
FGF10 81479,81479
FGF8 81479,81479
FGFR1 81405,81479
FGFR2 81479,81479
FGFR3 81479,81479
FLNA 81479,81479
FOXC2 81479,81479
FOXE1 81479,81479
FOXF2 81479,81479
FRAS1 81479,81479
FREM2 81479,81479
FZD6 81479,81479
GJA1 81479,81479
GLI2 81479,81479
GLI3 81479,81479
GNB1 81479,81479
GPC6 81479,81479
GREM1 81479,81479
GRHL3 81479,81479
HYAL2 81479,81479
IFT88 81479,81479
IGF1R 81479,81479
INPPL1 81479,81479
IRF6 81479,81479
ISM1 81479,81479
JAG2 81479,81479
KDM6A 81479,81479
KLF4 81479,81479
KMT2D 81479,81479
LHX8 81479,81479
MAFB 81479,81479
MASP1 81479,81479
MEIS2 81479,81479
MIB1 81479,81479
MID1 81479,81479
MN1 81479,81479
MSX1 81479,81479
MSX2 81479,81479
MYH3 81479,81479
NBAS 81479,81479
NECTIN1 81479,81479
NECTIN2 81479,81479
NEDD4L 81479,81479
NOTCH2 81479,81479
NTN1 81479,81479
NUDT6 81479,81479
PAX3 81479,81479
PAX7 81479,81479
PAX9 81479,81479
PDGFC 81479,81479
PDGFRA 81479,81479
PGM1 81479,81479
PHF8 81479,81479
PHYH 81479,81479
PIBF1 81479,81479
PIGA 81479,81479
PLEKHA5 81479,81479
PLEKHA7 81479,81479
POLR1C 81479,81479
POLR1D 81479,81479
PORCN 81479,81479
PPP1R21 81479,81479
PREPL 81479,81479
PRICKLE1 81479,81479
PTCH1 81479,81479
PTHLH 81479,81479
PTPRS 81479,81479
RIMS3 81479,81479
RIPK4 81479,81479
RPGRIP1L 81479,81479
RYK 81479,81479
SATB2 81479,81479
SEMA3E 81479,81479
SF3B4 81479,81479
SHH 81479,81479
SIX3 81479,81479
SKI 81479,81479
SMAD2 81479,81479
SMAD3 81479,81479
SMC1A 81479,81479
SNAP29 81479,81479
SNTG1 81479,81479
SOX9 81479,81479
SP8 81479,81479
SPECC1L 81479,81479
SPRY2 81479,81479
SPRY4 81479,81479
SUMO1 81479,81479
TBX1 81479,81479
TBX10 81479,81479
TBX22 81479,81479
TCOF1 81479,81479
TFAP2A 81479,81479
TGDS 81479,81479
TGFB1 81479,81479
TGFB3 81479,81479
TGFBR2 81405,81479
TGIF1 81479,81479
TP63 81479,81479
TXNRD2 81479,81479
UFD1 81479,81479
VAX1 81479,81479
WDR11 81479,81479
WDR35 81479,81479
WNT5A 81479,81479
WNT7A 81479,81479
YWHAE 81479,81479
ZBTB24 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10657Genes x (165)81479 81405(x5), 81406(x3), 81407(x1), 81479(x321) $1290 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 Custom Panel tool.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn 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

  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Orofacial clefts are the most common type of congenital craniofacial anomaly identified in newborns occurring at a rate of 1-2 per 1,000 live births (IPDTOC Working Group. 2011. PubMed ID: 20507242; Mai et al. 2014. PubMed ID: 25399767). Orofacial clefts result from the failure of the facial prominences to grow or fuse appropriately during the fourth through to the twelfth week of embryogenesis (Burg et al. 2016. PubMed ID: 26973535, Deshpande and Goudy. 2019. PubMed ID: 30828634). The exact timing of the disruption determines the type of cleft (unilateral, bilateral, submucosal, microform, complete, or incomplete) and the degree of upper lip, alveolus, hard palate, soft palate, and uvula involvement (Worley et al. 2018. PubMed ID: 30396411). The common subclinical forms of orofacial clefts include cleft lip only (CLO), cleft lip and palate (CLP) and cleft palate only (CPO). Subclinical forms may present as an isolated primary anomaly (non-syndromic) or be accompanied by additional congenital anomalies or genetic syndromes (syndromic). Approximately 70% of cases with CLO or CLP are non-syndromic, whereas 50% of cases with CPO are non-syndromic (Shi et al. 2008. PubMed ID: 18383123).

Pathogenic variants in the IRF6 gene are one of the most frequent underlying causes of orofacial clefting. IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end.

Genetics

This test includes genes identified through literature, OMIM, and HGMD searches that have a reported association with orofacial cleft phenotypes.

Orofacial clefts represent a group of clinically and genetically heterogeneous disorders that may result from a chromosomal anomaly, a single gene disorder, a complex disorder resulting from interactions involving multiple genes, or a gestational exposure to environmental risk factors (Raminov et al. 2012. PubMed ID: 21545302). Despite this heterogeneous nature, orofacial clefts display strong familial aggregation, suggesting that heredity plays a major role (Sivertsen et al. 2008. PubMed ID: 18250102, Grosen et al. 2010. PubMed ID: 19752161). Mendelian forms may be inherited in an autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL) manner, or arise de novo.

Van der Woude syndrome is the most common form of orofacial cleft and is frequently associated with missense and nonsense variants in the IRF6 gene (Brito et al. 2012. PubMed ID: 23213504). Pathogenic variants in the IRF6 gene have been reported in 69% (47/68) of patients with syndromic orofacial clefts and 3% (3/95) of patients with non-syndromic familial orofacial clefts (Desmyster et al. 2010. PubMed ID: 21045959). Beyond the IRF6 gene, pathogenic variants in the GRHL3, LRP6, TBX1, and TP63 genes have been detected via whole genome sequencing in 13% (6/46) of families with non-syndromic orofacial clefts (Basha et al. 2018. PubMed ID: 29500247).

Chromosomal abnormalities have been reported in a portion of individuals with orofacial clefts. A systematic review of published studies reported 0.5% to 13% of postnatal cases with syndromic orofacial cleft could be explained by an underlying chromosomal anomaly (Maarse et al. 2012. PubMed ID: 22889852). This rate was substantially reduced for non-syndromic cases, which ranged from 1.0% to 1.8% depending on the subclinical type of orofacial cleft.

See individual gene summaries for information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the genetic heterogeneity of the disorders tested in this panel, the clinical sensitivity of this specific grouping of genes is difficult to estimate. Clinical sensitivity varies depending on the subclinical type of cleft, the presentation (syndromic versus non-syndromic), and the degree of familial aggregation (Brito et al. 2012. PubMed ID: 23213504; Raminov et al. 2012. PubMed ID: 21545302; Desmyster et al. 2010. PubMed ID: 21045959). Up to 69% of familial cases of syndromic orofacial cleft and up to 3% of familial cases of non-syndromic orofacial cleft may be explained by the IRF6 gene (Desmyster et al. 2010. PubMed ID: 21045959). In addition, up to 12.5% of cases of syndromic orofacial cleft and 2% of cases of non-syndromic orofacial cleft may be explained by chromosomal abnormalities (Maarse et al. 2012. PubMed ID: 22889852).

Testing Strategy

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

This panel typically provides 98.1% 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. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for testing include individuals with a syndromic or non-syndromic form of orofacial cleft, or a family history consistent with a familial form of orofacial clefting.

Genes

Official Gene Symbol OMIM ID
ABCA12 607800
ACACB 601557
ACBD5 616618
ACSS2 605832
ACTC1 102540
ADH7 600086
AHDC1 615790
ALX1 601527
AMELX 300391
AMER1 300647
ANOS1 300836
ARCN1 600820
ARHGAP29 610496
ARID5B 608538
BMP2 112261
BMP4 112262
CADPS 604667
CBFB 121360
CDH1 192090
CDH19 603016
CDKN1C 600856
CDON 608707
CFAP57 614259
CFDP1 608108
CHD7 608892
CHN2 602857
CHRNA7 118511
CLPTM1 604783
CLPTM1L 612585
COG5 606821
COL11A1 120280
COL11A2 120290
COL2A1 120140
COL9A1 120210
COL9A2 120260
COL9A3 120270
COLEC10 607620
COLEC11 612502
CRISPLD2 612434
CRYZ 123691
CTNND1 601045
DAB1 603448
DEAF1 602635
DENND4B 0
DHCR7 602858
DHODH 126064
DLG1 601014
DLX4 601911
DVL3 601368
EFTUD2 603892
ESCO2 609353
ESRP2 612960
EVC2 607261
EYA1 601653
FAM20C 611061
FBLN1 135820
FGD1 300546
FGF10 602115
FGF8 600483
FGFR1 136350
FGFR2 176943
FGFR3 134934
FLNA 300017
FOXC2 602402
FOXE1 602617
FOXF2 603250
FRAS1 607830
FREM2 608945
FZD6 603409
GJA1 121014
GLI2 165230
GLI3 165240
GNB1 139380
GPC6 604404
GREM1 603054
GRHL3 608317
HYAL2 603551
IFT88 600595
IGF1R 147370
INPPL1 600829
IRF6 607199
ISM1 615793
JAG2 602570
KDM6A 300128
KLF4 602253
KMT2D 602113
LHX8 604425
MAFB 608968
MASP1 600521
MEIS2 601740
MIB1 608677
MID1 300552
MN1 156100
MSX1 142983
MSX2 123101
MYH3 160720
NBAS 608025
NECTIN1 600644
NECTIN2 600798
NEDD4L 606384
NOTCH2 600275
NTN1 601614
NUDT6 606261
PAX3 606597
PAX7 167410
PAX9 167416
PDGFC 608452
PDGFRA 173490
PGM1 171900
PHF8 300560
PHYH 602026
PIBF1 607532
PIGA 311770
PLEKHA5 607770
PLEKHA7 612686
POLR1C 610060
POLR1D 613715
PORCN 300651
PPP1R21 618159
PREPL 609557
PRICKLE1 608500
PTCH1 601309
PTHLH 168470
PTPRS 601576
RIMS3 611600
RIPK4 605706
RPGRIP1L 610937
RYK 600524
SATB2 608148
SEMA3E 608166
SF3B4 605593
SHH 600725
SIX3 603714
SKI 164780
SMAD2 601366
SMAD3 603109
SMC1A 300040
SNAP29 604202
SNTG1 608714
SOX9 608160
SP8 608306
SPECC1L 614140
SPRY2 602466
SPRY4 607984
SUMO1 601912
TBX1 602054
TBX10 604648
TBX22 300307
TCOF1 606847
TFAP2A 107580
TGDS 616146
TGFB1 190180
TGFB3 190230
TGFBR2 190182
TGIF1 602630
TP63 603273
TXNRD2 606448
UFD1 601754
VAX1 604294
WDR11 606417
WDR35 613602
WNT5A 164975
WNT7A 601570
YWHAE 605066
ZBTB24 614064
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
3MC syndrome 1 AR 257920
3MC syndrome 2 AR 265050
3MC syndrome 3 AR 248340
46XX sex reversal 2 AD 278850
46XY sex reversal 10 AD 616425
Aarskog Syndrome XL 305400
Abruzzo-Erickson syndrome XL 302905
Achondrogenesis Type 2 AD 200610
Achondroplasia AD 100800
Acrofacial Dysostosis 1, Nager Type AD 154400
Acute Lymphoblastic Leukemia 613065
ADULT Syndrome AD 103285
Alagille Syndrome 2 AD 610205
Amelogenesis Imperfecta, Type Ie XL 301200
Antley-Bixler Syndrome AD 207410
Apert Syndrome AD 101200
Aplasia Of Lacrimal And Salivary Glands AD 180920
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1 AD 107970
Arthrogryposis, Distal, Type 2B AD 601680
Arthrogryposis, distal, type 2B3 (Sheldon-Hall) AD 618436
Arthrogryposis, Distal, Type 8 AD 178110
Atrial Septal Defect 5 AD 612794
Avascular Necrosis Of Femoral Head, Primary AD 608805
Bamforth Syndrome AR 241850
Basal Cell Carcinoma, Multiple 605462
Beckwith-Wiedemann Syndrome AD 130650
Bent bone dysplasia syndrome AD 614592
Bethlem Myopathy AD 158810
Bethlem Myopathy AD 158810
Bladder Cancer 109800
Blepharocheilodontic syndrome 1 AD 119580
Blepharocheilodontic syndrome 2 AD 617681
Brachydactyly Type A2 AD 112600
Brachydactyly, Type E2 AD 613382
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome AD 620186
Branchiooculofacial Syndrome AD 113620
Branchiootic syndrome 1 AD 602588
Branchiootorenal Syndrome 1, with or without Cataracts AD 113650
Camptodactyly, Tall Stature, And Hearing Loss Syndrome AD 610474
Camptomelic Dysplasia AD 114290
Camurati-Engelmann Disease AD 131300
Cardiac Valvular Dysplasia, X-Linked XL 314400
Catel-Manzke Syndrome AR 616145
CEBALID syndrome AD 618774
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome AR 609528
Cervical Cancer 603956
CHAND syndrome AR 214350
CHARGE Association AD 214800
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome AR 225060
Cleft Palate X-Linked XL 303400
Cleft palate, cardiac defects, and mental retardation AD 600987
Cleidocranial dysplasia 2 AD 620099
COACH syndrome 3 AR 619113
Congenital Disorder Of Glycosylation Type 2I AR 613612
Congenital Disorder of Glycosylation Type It AR 614921
Congenital heart defects, multiple types, 8, with or without heterotaxy AD 619657
Congenital myopathy 19 AR 618578
Conotruncal Heart Malformations 217095
Contractures, pterygia, and variable skeletal fusions syndrome 1B AR 618469
Cornelia de Lange syndrome 2 XL 300590
Cranioectodermal Dysplasia 2 AR 613610
Craniofacial Deafness Hand Syndrome AD 122880
Craniometaphyseal dysplasia, autosomal recessive AR 218400
Craniosynostosis, Type 2 AD 604757
Crouzon Syndrome AD 123500
Crouzon Syndrome With Acanthosis Nigricans AD 612247
Cryptophthalmos, unilateral or bilateral, isolated AR 123570
Culler-Jones Syndrome AD 615849
Cutis Gyrata Syndrome Of Beare And Stevenson AD 123790
Cystic Fibrosis AR 219700
Czech Dysplasia Metatarsal Type AD 609162
Deafness, Autosomal Dominant 13 AD 601868
Deafness, autosomal dominant 37 AD 618533
Deafness, Autosomal Recessive 53 AR 609706
Digeorge Sequence AD 188400
Dilated Cardiomyopathy 1R AD 613424
Distichiasis-Lymphedema Syndrome AD 153400
Duane retraction syndrome 3 AD 617041
Dyskinesia, Seizures, and Intellectual Developmental Disorder AR 617171
Ectodermal Dysplasia 3, Witkop Type AD 189500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 AD 604292
Ellis-van Creveld Syndrome AR 225500
Encephalocraniocutaneous lipomatosis 613001
Endometrial Cancer 608089
Epidermal Nevus 162900
Epileptic encephalopathy, early infantile, 85, with or without midline brain defects XL 301044
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness AD 132450
Erythrokeratodermia variabilis et progressiva 3 AD 617525
Esophageal Cancer 133239
Fallot Tetralogy AD 187500
Familial Cancer Of Breast 114480
Familial Colorectal Cancer 114500
Familial Hypertrophic Cardiomyopathy 11 AD 612098
FG Syndrome 2 XL 300321
Fibrochondrogenesis AR 228520
Fibrochondrogenesis 2 AD 614524
Focal Dermal Hypoplasia XL 305600
Fraser Syndrome AR 219000
Fraser Syndrome 2 AR 617666
Freeman-Sheldon Syndrome AD 193700
Frontometaphyseal Dysplasia XL 305620
Frontonasal Dysplasia 3 AR 613456
Fuhrmann Syndrome AR 228930
Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial 175510
Glass Syndrome AD 612313
Glucocorticoid deficiency 5 AR 617825
Gorlin Syndrome AD 109400
Greig Cephalopolysyndactyly Syndrome AD 175700
Hajdu-Cheney Syndrome AD 102500
Harlequin Ichthyosis AR 242500
Hartsfield syndrome AD 615465
Hay-Wells Syndrome AD 106260
Hemochromatosis Type 1 AR 235200
Hereditary Diffuse Gastric Cancer AD 137215
Hereditary Nonpolyposis Colorectal Cancer Type 6 614331
Holoprosencephaly 11 AD 614226
Holoprosencephaly 2 AD 157170
Holoprosencephaly 3 AD 142945
Holoprosencephaly 4 AD 142946
Holoprosencephaly 7 AD 610828
Holoprosencephaly 9 AD 610829
Hypertelorism, Teebi type AD 145420
Hypochondroplasia AD 146000
Hypogonadotropic Hypogonadism 14 with or without Anosmia AD 614858
Hypogonadotropic Hypogonadism 17 with or without Anosmia AD 615266
Hypothalamic Hamartomas AD 241800
Ichthyosis, congenital, autosomal recessive 4A AR 601277
Idiopathic Hypereosinophilic Syndrome 607685
IgA nephropathy, susceptibility to, 3 AD 616818
IMAGE Syndrome AD 614732
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 AR 614069
Infantile Liver Failure Syndrome 2 AR 616483
Inflammatory bowel disease, immunodeficiency, and encephalopathy AR 618213
Insulin-Like Growth Factor 1 Resistance To AD 270450
Intellectual developmental disorder, autosomal recessive 78 AR 620237
Intervertebral Disc Disorder 603932
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked XL 300048
Jackson-Weiss Syndrome AD 123150
Joubert Syndrome 33 AR 617767
Joubert Syndrome 7 AR 611560
Juberg-Hayward syndrome AR 216100
Kabuki Syndrome 1 AD 147920
Kabuki Syndrome 2 XL 300867
Kallmann Syndrome 1 XL 308700
Kallmann Syndrome 2 AD 147950
Kallmann Syndrome 5 AD 612370
Kallmann Syndrome 6 AD 612702
Klein-Waardenberg's Syndrome AD 148820
Kniest Dysplasia AD 156550
Lacrimoauriculodentodigital Syndrome AD 149730
LADD syndrome 2 AD 620192
LADD syndrome 3 AD 620193
Left Ventricular Noncompaction 7 AD 615092
Legg-Calve-Perthes Disease AD 150600
Leukodystrophy, Hypomyelinating, 11 AR 616494
Limb-Mammary Syndrome AD 603543
Loeys-Dietz Syndrome 2 AD 610168
Loeys-Dietz Syndrome 3 AD 613795
Loeys-Dietz Syndrome 5 AD 615582
Loeys-Dietz syndrome 6 AD 619656
Mandibulofacial dysostosis, Guion-Almeida type AD 610536
Marshall Syndrome AD 154780
Meckel Syndrome 5 AR 611561
Melnick-Needles Syndrome XL 309350
Meningioma, Familial AD 607174
Mental Retardation, Autosomal Dominant 24 AD 615828
Mental Retardation, Autosomal Dominant 42 AD 616973
Microphthalmia Syndromic 6 AD 607932
Microphthalmia, Isolated, With Coloboma 5 AD 611638
Microphthalmia, syndromic 11 AR 614402
Miller Syndrome AR 263750
Minicore Myopathy With External Ophthalmoplegia AR 255320
Mirror movements 4 AD 618264
Muenke Syndrome AD 602849
Muggenthaler-Chowdhury-Chioza syndrome AR 621063
Multicentric carpotarsal osteolysis syndrome AD 166300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 XL 300868
Multiple Epiphyseal Dysplasia 2 AD 600204
Multiple Epiphyseal Dysplasia 3 AD 600969
Multiple Epiphyseal Dysplasia 6 AD 614135
Muscular dystrophy, limb-girdle, autosomal recessive 27 AR 619566
Myasthenic syndrome, congenital, 22 AR 616224
Myelodysplastic Syndrome 614286
Nail disorder, nonsyndromic congenital, 1 AR 161050
Neoplasm Of Ovary 167000
Neoplasm Of Stomach 613659
Neurodevelopmental disorder with epilepsy and hemochromatosis XL 301072
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities AR 619383
Oculodentodigital Dysplasia AD 164200
Oculodentodigital Dysplasia, Autosomal Recessive AR 257850
Oculomaxillofacial Dysostosis AD 600251
Omodysplasia 1 AR 258315
Opitz G/BBB Syndrome, Type I XL 300000
Opitz GBBB syndrome, type II AD 145410
Opsismodysplasia AR 258480
Orofacial Cleft 10 613705
Orofacial Cleft 11 AD 600625
Orofacial cleft 15 AD 616788
Orofacial Cleft 5 AD 608874
Orofacial Cleft 6, Susceptibility To AD 608864
Orofacial cleft 8 618149
Osteoarthritis With Mild Chondrodysplasia AD 604864
Osteoglophonic Dysplasia AD 166250
Osteopathia Striata With Cranial Sclerosis XL 300373
Oto-Palato-Digital Syndrome Type 1 XL 311300
Oto-Palato-Digital Syndrome, Type II XL 304120
Otofaciocervical Syndrome AD 166780
Otospondylomegaepiphyseal Dysplasia AR 215150
Pallister-Hall Syndrome AD 146510
Palmoplantar keratoderma with congenital alopecia AD 104100
Parietal Foramina AD 168500
Parietal Foramina With Cleidocranial Dysplasia AD 168550
Paroxysmal Nocturnal Hemoglobinuria 300818
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
Popliteal Pterygium Syndrome AD 119500
Popliteal pterygium syndrome 2, lethal type AR 263650
Premature ovarian failure 21 AD 620311
Progressive Myoclonus Epilepsy With Ataxia AR 612437
Raine Syndrome AR 259775
Rapp-Hodgkin Ectodermal Dysplasia Syndrome AD 129400
Refsum Disease, Classic AR 266500
Retinal dystrophy with leukodystrophy AR 618863
Rhabdomyosarcoma Alveolar 268220
Roberts Syndrome AR 268300
Roberts-SC Phocomelia Syndrome AR 269000
Robinow Syndrome AD 180700
Robinow syndrome, autosomal dominant 3 AD 616894
SADDAN AD 616482
Saethre-Chotzen Syndrome AD 101400
Santos syndrome AR 613005
Scaphocephaly, Maxillary Retrusion, And Mental Retardation 609579
Schizencephaly 269160
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies AD 617877
Short stature, Optic nerve atrophy, and Pelger-Huet anomaly AR 614800
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay AD 617164
Short-Rib Thoracic Dysplasia 7 with or without Polydactyly AR 614091
Shprintzen-Goldberg Syndrome AD 182212
Siderius X-Linked Mental Retardation Syndrome XL 300263
Single Upper Central Incisor AD 147250
Smith-Lemli-Opitz Syndrome AR 270400
Spermatogenic failure 95 AR 620917
Spinocerebellar ataxia 37 AD 615945
Split-Hand/Foot Malformation 4 AD 605289
Spondyloepimetaphyseal Dysplasia Strudwick Type AD 184250
Spondyloepiphyseal Dysplasia Congenita AD 183900
Spondyloepiphyseal Sysplasia, Stanescu Type AD 616583
Spondyloperipheral Dysplasia AD 271700
Stickler Syndrome Type 1 AD 108300
Stickler Syndrome, Type 2 AD 604841
Stickler Syndrome, Type 3 AD 184840
Stickler Syndrome, Type 4 AD 614134
Stickler Syndrome, Type 5 AR 614284
Stickler Syndrome, Type I, Nonsyndromic Ocular AD 609508
Stickler syndrome, type VI AR 620022
Syndactyly Type 3 AD 186100
Synpolydactyly 2 AD 608180
Terminal Osseous Dysplasia XL 300244
Testicular Cancer 273300
Thanatophoric Dysplasia Type 1 AD 187600
Thanatophoric Dysplasia Type 2 AD 187601
Thyroid Cancer, Nonmedullary, 4 AD 616534
Tooth Agenesis, Selective, 1 AD 106600
Tooth Agenesis, Selective, 3 AD 604625
Treacher Collins Syndrome AD 154500
Treacher Collins Syndrome 2 AD 613717
Treacher Collins syndrome 3 AR 248390
Trigonocephaly, Nonsyndromic AD 190440
Ulna And Fibula Absence Of With Severe Limb Deficiency AR 276820
Van Der Woude Syndrome AD 119300
Van Der Woude Syndrome 2 AD 606713
Velocardiofacial Syndrome AD 192430
Vitreoretinopathy with phalangeal epiphyseal dysplasia AD 619248
Waardenburg Syndrome Type 1 AD 193500
Weyers Acrofacial Dysostosis AD 193530
X-Linked Periventricular Heterotopia XL 300049
Xia-Gibbs syndrome AD 615829

Related Tests

Name
PGxome®
IRF6-Related Disorders via the IRF6 Gene
Van der Woude Syndrome (VWS) via the GRHL3 Gene
X-linked Cleft Palate via the TBX22 Gene

Citations

  • Basha et al. 2018. PubMed ID: 29500247
  • Brito et al. 2012. PubMed ID: 23213504
  • Burg et al. 2016. PubMed ID: 26973535
  • Deshpande and Goudy. 2019. PubMed ID: 30828634
  • Desmyter et al. 2010. PubMed ID: 21045959
  • Grosen et al. 2010. PubMed ID: 19752161
  • IPDTOC Working Group. 2011. PubMed ID: 20507242
  • Maarse et al. 2012. PubMed ID: 22889852
  • Mai et al. 2014. PubMed ID: 25399767
  • Rahimov et al. 2012. PubMed ID: 21545302
  • Shi et al. 2008. PubMed ID: 18383123
  • Sivertsen et al. 2008. PubMed ID: 18250102
  • Worley et al. 2018. PubMed ID: 30396411

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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