Congenital Anomalies of the Gastrointestinal Tract Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
13377 ABCB11 81479,81479 Order Options and Pricing
ABCB4 81479,81479
ABCC2 81479,81479
ACTG1 81479,81479
ACVR2B 81479,81479
AMER1 81479,81479
ARFGEF2 81479,81479
ARL15 81479,81479
ASXL3 81479,81479
ATP8B1 81479,81479
BHMT 81479,81479
BRCA2 81479,81167
CDH18 81479,81479
CDK9 81479,81479
CDKN1C 81479,81479
CDX1 81479,81479
CENPF 81479,81479
CFAP53 81479,81479
CFTR 81223,81222
CHD7 81407,81479
CLCN4 81479,81479
CLMP 81479,81479
CRB2 81479,81479
CTNND2 81479,81479
DDX3X 81479,81479
DHCR7 81405,81479
DHODH 81479,81479
DISP1 81479,81479
DLST 81479,81479
DPF2 81479,81479
DST 81479,81479
DYNC2H1 81479,81479
ECE1 81479,81479
EDN3 81479,81479
EDNRB 81479,81479
EFNB1 81479,81479
EFNB2 81479,81479
EFTUD2 81479,81479
ERCC4 81479,81479
EYA1 81406,81405
FANCA 81479,81479
FANCB 81479,81479
FANCC 81479,81479
FANCD2 81479,81479
FANCG 81479,81479
FBN1 81408,81479
FHOD3 81479,81479
FLNA 81479,81479
FOXA2 81479,81479
FOXF1 81479,81479
FRAS1 81479,81479
FREM1 81479,81479
FREM2 81479,81479
GABRB3 81479,81479
GATA4 81479,81479
GATA5 81479,81479
GATA6 81479,81479
GDNF 81479,81479
GLI2 81479,81479
GLI3 81479,81479
GRB10 81479,81479
GSC 81479,81479
GUCY2C 81479,81479
HIRA 81479,81479
HNF1B 81405,81404
HOXD13 81479,81479
HSPD1 81479,81479
HSPG2 81479,81479
IFT140 81479,81479
IFT27 81479,81479
INTU 81479,81479
IRF2BPL 81479,81479
ITGA6 81479,81479
ITGB2 81479,81479
ITGB4 81479,81479
JAG1 81407,81406
KCNH1 81479,81479
KDM6A 81479,81479
KMT2D 81479,81479
LBR 81479,81479
LEFTY2 81479,81479
LHFPL5 81479,81479
LONP1 81479,81479
LRP2 81479,81479
MAP1B 81479,81479
MAP3K15 81479,81479
MAPRE2 81479,81479
MECP2 81302,81304
MID1 81479,81479
MIR17HG 81479,81479
MKKS 81479,81479
MMP14 81479,81479
MNX1 81479,81479
MPDZ 81479,81479
MTHFR 81479,81479
MYCN 81479,81479
MYH14 81479,81479
MYO5B 81479,81479
MYOD1 81479,81479
MYRF 81479,81479
NAA15 81479,81479
NEB 81408,81479
NHS 81479,81479
NIPBL 81479,81479
NKX2-5 81479,81479
NLGN1 81479,81479
NODAL 81479,81479
NOG 81479,81479
NOS1 81479,81479
NOTCH1 81407,81479
NOTCH2 81479,81479
NR0B1 81404,81479
NR2F2 81479,81479
NRTN 81479,81479
NRXN1 81479,81479
NRXN3 81479,81479
NSD1 81406,81405
NUP188 81479,81479
OGT 81479,81479
PBX1 81479,81479
PCSK5 81479,81479
PDGFRA 81479,81479
PDX1 81404,81479
PFKL 81479,81479
PIGN 81479,81479
PITX2 81479,81479
PKD1L1 81479,81479
PLAT 81479,81479
PLEC 81479,81479
PLPP6 81479,81479
PODXL 81479,81479
POGZ 81479,81479
POLE 81479,81479
PPARGC1A 81479,81479
PPP1R12A 81479,81479
PRF1 81479,81479
PTEN 81321,81323
PTF1A 81479,81479
PTPN12 81479,81479
PTPN14 81479,81479
RARB 81479,81479
RET 81406,81479
RFX6 81479,81479
ROBO4 81479,81479
SETD5 81479,81479
SF3B4 81479,81479
SGCD 81405,81479
SHH 81479,81479
SHROOM4 81479,81479
SIN3A 81479,81479
SLC26A3 81479,81479
SLC29A4 81479,81479
SLC5A9 81479,81479
SON 81479,81479
SOX2 81479,81479
SPINK5 81479,81479
SPINT2 81479,81479
STAG2 81479,81479
STIM1 81479,81479
TBC1D4 81479,81479
TBX1 81479,81479
TBX4 81479,81479
TBX5 81405,81479
TCF7L2 81479,81479
TCN2 81479,81479
TLN1 81479,81479
TMEM70 81479,81479
TP63 81479,81479
TRPC6 81406,81479
TTC28 81479,81479
TTC7A 81479,81479
TUBGCP6 81479,81479
TXNL4A 81479,81479
TXNRD2 81479,81479
UGT1A1 81479,81479
WT1 81405,81479
ZEB2 81405,81404
ZFPM2 81479,81479
ZIC2 81479,81479
ZIC3 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
13377Genes x (180)81479 81167, 81222, 81223, 81302, 81304, 81321, 81323, 81404, 81405, 81406, 81407, 81408, 81479 $1350 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 anomalies (sometimes described as congenital malformations, congenital abnormalities, or birth defects) are the fifth leading cause of death globally in children less than five years of age (Wright. 2019. PubMed ID: 31481373). The most common life-threatening congenital anomalies involve the gastrointestinal tract and may include malformations, dysplasias, disruptions, or deformations of one or more organs such as the esophagus, stomach, small and large intestines, anus and rectum, pancreas, and hepato-billiary system. Collectively, congenital anomalies of the gastrointestinal tract affect 10 in 10,000 births (or 0.1%). Up to 40% of emergency neonatal surgeries aim to correct these gastrointestinal anomalies (Stanescu et al. 2017. PubMed ID: 28601177; Wright. 2019. PubMed ID: 31481373).

Intestinal atresia and stenosis result in complete or partial blockage of the digestive tract, respectively. Clinical manifestations of intestinal atresia and stenosis vary depending on the type of defect and location within the digestive tract, but may include polyhydramnios in the prenatal period, distended abdomen, constipation, vomiting, jaundice, and feeding intolerance. Malrotation, most often occurring in the small intestine, happens when an organ fails to rotate properly into its final position during fetal development and is often asymptomatic. Symptomatic malrotation often occurs with volvulus, a severe life-threatening complication where blood flow becomes restricted or the digestive tract is completely blocked, and may present with abdominal pain, constipation, diarrhea, failure to thrive, distended abdomen, and vomiting. Hirschsprung disease, characterized by the complete absence of neuronal ganglion cells from a portion of the intestinal tract, may present with constipation, diarrhea, fatigue, distended abdomen, and vomiting. Other congenital anomalies of the gastrointestinal tract include duplication cysts, congenital diaphragmatic hernia, pancreatic agenesis, heterotaxy involving the gastrointestinal tract, and abdominal wall defects including omphalocele and gastroschisis (Wilson et al. 2020. PubMed ID: 31424831; https://www.niddk.nih.gov/).

While the majority of congenital anomalies of the gastrointestinal tract may be isolated occurrences, they could be a component of a monogenic disease or a chromosomal syndrome. A molecular diagnosis is not likely to aid in surgical treatment of the gastrointestinal defect, but patients and their families may benefit from a molecular diagnosis for prognostic information, symptom management, and reproductive planning.

Genetics

This test includes genes known to be monogenic causes of disorders in which an association with a congenital anomaly of the gastrointestinal tract is well-established, genes for which there is suggestive evidence for an association with gastrointestinal defects, and genes associated with disorders that may be difficult to distinguish phenotypically. These genes were identified through literature, OMIM, and HGMD searches.

Congenital anomalies of the gastrointestinal tract represent a group of phenotypically and etiologically diverse developmental defects  that may result from a single gene disorder, a chromosomal abnormality, a complex polygenic disorder, or gestational exposure to environmental risk factors (Zwink et al. 2011. PubMed ID: 21586115; Neves et al. 2018. PubMed ID: 29174094; Heuckeroth. 2018. PubMed ID: 29300049; Sigmon et al. 2020. PubMed ID: 29261981). Mendelian forms may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, or may arise de novo.

Chromosomal abnormalities, including trisomies and other abnormalities such as large deletions and unbalanced translocations, may be the most common genetic risk factor associated with congenital malformations of the gastrointestinal tract (Nicolaides et al. 1992. PubMed ID: 1386985; Bishop et al. 2020. PubMed ID: 31167209). For example, up to 40% of infants with duodenal atresia have trisomy 21, and 2-3% of all patients with trisomy 21 have duodenal atresia (Sigmon et al. 2020. PubMed ID: 29261981). However, some monogenic disorders are also associated with congenital anomalies of the gastrointestinal tract. For example, pathogenic variants in ZIC3 cause X-linked heterotaxy syndrome, which may feature duodenal atresia due to defects in left-right axis formation during development (Bellchambers and Ware. 2018. PubMed ID: 29442328; Bishop et al. 2020. PubMed ID: 31167209). Biallelic pathogenic variants in TTC7A cause autosomal recessive gastrointestinal defects and immunodeficiency syndrome, which may feature multiple intestinal atresia and combined immunodeficiency due to defects in intestinal epithelial cell structure and function, though the molecular mechanism remains incompletely understood (Neves et al. 2018. PubMed ID: 29174094; Jardine et al. 2018 PubMed ID: 30553809). 

A wide variety of causative variants in genes associated with congenital anomalies of the gastrointestinal tract have been reported including missense, nonsense, splicing, small insertions and deletions, large deletions and duplications, and complex rearrangements (Human Gene Mutation Database). See individual gene summaries for information about the 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, and the etiological diversity of gastrointestinal defects, the clinical sensitivity of this specific grouping of genes is difficult to estimate. Clinical sensitivity may vary depending on the type of gastrointestinal defect, the presentation (isolated vs syndromic), and family history. For example, up to 40% of infants with duodenal atresia have a chromosomal abnormality, primarily trisomy 21 (Sigmon et al. 2020. PubMed ID: 29261981). Approximately 8% of infants with a congenital anomaly of the gastrointestinal tract have Hirschsprung disease (Asindi et al. 2002. PubMed ID: 12370716), and 10-50% of patients with Hirschsprung disease have causative variants in the RET, EDNRB, or EDN3 genes (Kusafuka et al. 1996. PubMed ID: 8852658; Svensson et al. 1999. PubMed ID: 10231870; Sancandi et al. 2000. PubMed ID: 10646792).

Testing Strategy

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

This panel typically provides 98.8% 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

Candidates for this test include patients with congenital anomalies involving the gastrointestinal tract, which may include malformations, dysplasias, disruptions, or deformations of one or more organs such as the esophagus, stomach, small and large intestines, anus and rectum, pancreas, and hepato-billiary system.

Genes

Official Gene Symbol OMIM ID
ABCB11 603201
ABCB4 171060
ABCC2 601107
ACTG1 102560
ACVR2B 602730
AMER1 300647
ARFGEF2 605371
ARL15 0
ASXL3 615115
ATP8B1 602397
BHMT 602888
BRCA2 600185
CDH18 603019
CDK9 603251
CDKN1C 600856
CDX1 600746
CENPF 600236
CFAP53 614759
CFTR 602421
CHD7 608892
CLCN4 302910
CLMP 611693
CRB2 609720
CTNND2 604275
DDX3X 300160
DHCR7 602858
DHODH 126064
DISP1 607502
DLST 126063
DPF2 601671
DST 113810
DYNC2H1 603297
ECE1 600423
EDN3 131242
EDNRB 131244
EFNB1 300035
EFNB2 600527
EFTUD2 603892
ERCC4 133520
EYA1 601653
FANCA 607139
FANCB 300515
FANCC 613899
FANCD2 613984
FANCG 602956
FBN1 134797
FHOD3 609691
FLNA 300017
FOXA2 600288
FOXF1 601089
FRAS1 607830
FREM1 608944
FREM2 608945
GABRB3 137192
GATA4 600576
GATA5 611496
GATA6 601656
GDNF 600837
GLI2 165230
GLI3 165240
GRB10 601523
GSC 138890
GUCY2C 601330
HIRA 600237
HNF1B 189907
HOXD13 142989
HSPD1 118190
HSPG2 142461
IFT140 614620
IFT27 615870
INTU 610621
IRF2BPL 611720
ITGA6 147556
ITGB2 600065
ITGB4 147557
JAG1 601920
KCNH1 603305
KDM6A 300128
KMT2D 602113
LBR 600024
LEFTY2 601877
LHFPL5 609427
LONP1 605490
LRP2 600073
MAP1B 157129
MAP3K15 300820
MAPRE2 605789
MECP2 300005
MID1 300552
MIR17HG 609415
MKKS 604896
MMP14 600754
MNX1 142994
MPDZ 603785
MTHFR 607093
MYCN 164840
MYH14 608568
MYO5B 606540
MYOD1 159970
MYRF 608329
NAA15 608000
NEB 161650
NHS 300457
NIPBL 608667
NKX2-5 600584
NLGN1 600568
NODAL 601265
NOG 602991
NOS1 163731
NOTCH1 190198
NOTCH2 600275
NR0B1 300473
NR2F2 107773
NRTN 602018
NRXN1 600565
NRXN3 600567
NSD1 606681
NUP188 615587
OGT 300255
PBX1 176310
PCSK5 600488
PDGFRA 173490
PDX1 600733
PFKL 171860
PIGN 606097
PITX2 601542
PKD1L1 609721
PLAT 173370
PLEC 601282
PLPP6 611666
PODXL 602632
POGZ 614787
POLE 174762
PPARGC1A 604517
PPP1R12A 602021
PRF1 170280
PTEN 601728
PTF1A 607194
PTPN12 600079
PTPN14 603155
RARB 180220
RET 164761
RFX6 612659
ROBO4 607528
SETD5 615743
SF3B4 605593
SGCD 601411
SHH 600725
SHROOM4 300579
SIN3A 607776
SLC26A3 126650
SLC29A4 609149
SLC5A9 0
SON 182465
SOX2 184429
SPINK5 605010
SPINT2 605124
STAG2 300826
STIM1 605921
TBC1D4 612465
TBX1 602054
TBX4 601719
TBX5 601620
TCF7L2 602228
TCN2 613441
TLN1 186745
TMEM70 612418
TP63 603273
TRPC6 603652
TTC28 615098
TTC7A 609332
TUBGCP6 610053
TXNL4A 611595
TXNRD2 606448
UGT1A1 191740
WT1 607102
ZEB2 605802
ZFPM2 603693
ZIC2 603073
ZIC3 300265
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
46,XX sex reversal 5 AD 618901
46,XY Sex Reversal, Type 2 XL 300018
46XY Sex Reversal 9 AD 616067
ABCD Syndrome AR 600501
Acrofacial Dysostosis 1, Nager Type AD 154400
Acromicric Dysplasia AD 102370
Adams-Oliver Syndrome 5 AD 616028
ADULT Syndrome AD 103285
Alagille Syndrome 1 AD 118450
Alagille Syndrome 2 AD 610205
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins AD 265380
Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome AR 601360
Aortic valve disease 8 AD 618496
Aortic Valve Disorder AD 109730
Aplastic Anemia 609135
Atrial Septal Defect 2 AD 607941
Atrial septal defect 9 AD 614475
Atrial Septal Defect With Atrioventricular Conduction Defects AD 108900
Atrioventricular Septal Defect 4 AD 614430
Atrioventricular septal defect 5 AD 614474
Autism, Susceptibility To, X-Linked 3 XL 300496
Axenfeld-Rieger syndrome, type 1 AD 180500
Bainbridge-Ropers Syndrome AD 615485
Baraitser-Winter Syndrome 2 AD 614583
Bardet-Biedl Syndrome 19 AR 615996
Bardet-Biedl Syndrome 6 AR 605231
Beckwith-Wiedemann Syndrome AD 130650
Benign Recurrent Intrahepatic Cholestasis 1 AR 243300
Benign Recurrent Intrahepatic Cholestasis 2 AR 605479
Bifid Nose With Or Without Anorectal And Renal Anomalies 608980
Bilirubin, Serum Level Of, Quantitative Trait Locus 1 601816
Brachydactyly, Type B2 AD 611377
Brachydactyly, Type D AD 113200
Brachydactyly, Type E1 AD 113300
Brachydactyly-Syndactyly Syndrome 610713
Branchiootic syndrome 1 AD 602588
Branchiootorenal Syndrome 1, with or without Cataracts AD 113650
Breast-Ovarian Cancer, Familial 2 AD 612555
Bronchiectasis AD 211400
Burn-McKeown Syndrome AR 608572
Cardiac Valvular Dysplasia, X-Linked XL 314400
Cardiac-urogenital syndrome AD 618280
Cataract, Congenital, X-Linked XL 302200
CHARGE Association AD 214800
Choanal Atresia And Lymphedema AR 613611
Cholecystitis AD 600803
Cholestasis Of Pregnancy AD 147480
Cholestasis, intrahepatic, of pregnancy, 3 AD 614972
Cholestasis, Progressive Familial Intrahepatic 2 AR 601847
Cholestasis, Progressive Familial Intrahepatic 3 AR 602347
CODAS syndrome AR 600373
Coffin-Siris syndrome 7 AD 618027
Colorectal cancer, susceptibility to, 12 AD 615083
Congenital Anomalies of Kidney and Urinary Tract Syndrome with or without Hearing Loss, Abnormal Ears, or Developmental Delay AD 617641
Congenital Bilateral Absence Of The Vas Deferens AR 277180
Congenital Central Hypoventilation syndrome AD 209880
Congenital heart defects, multiple types, 4 AD 615779
Congenital heart defects, multiple types, 5 AD 617912
Congenital Microvillous Atrophy AR 251850
Congenital Secretory Diarrhea, Chloride Type AR 214700
Congenital Secretory Diarrhea, Sodium Type AR 270420
Congenital short bowel syndrome AR 615237
Conotruncal Heart Malformations 217095
Cornelia de Lange syndrome 1 AD 122470
Cowden Disease AD 158350
Craniofrontonasal Dysplasia XL 304110
Crigler-Najjar Syndrome, Type I AR 218800
Crigler-Najjar Syndrome, Type II AR 606785
Cryptophthalmos, unilateral or bilateral, isolated AR 123570
Culler-Jones Syndrome AD 615849
Currarino Syndrome AD 176450
Cushing's Symphalangism AD 185800
Cystic Fibrosis AR 219700
Deafness, Autosomal Dominant 20 AD 604717
Deafness, Autosomal Dominant 4 AD 600652
Deafness, Autosomal Recessive 67 AR 610265
Deafness, congenital heart defects, and posterior embryotoxon 617992
Diabetes Mellitus, Noninsulin-Dependent AD 125853
Diabetes Mellitus, Permanent Neonatal, With Cerebellar Agenesis AR 609069
Diaphragmatic Hernia 3 610187
Diarrhea 6 AD 614616
Digeorge Sequence AD 188400
Dilated Cardiomyopathy 1L 606685
Donnai Barrow Syndrome AR 222448
Drash Syndrome AD 194080
Dubin-Johnson Syndrome AR 237500
Dyssegmental Dysplasia Silverman-Handmaker Type AR 224410
Ectopia Lentis, Isolated, Autosomal Dominant AD 129600
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 AD 604292
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization AD 618113
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations XL 300673
Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy AR 226670
Epidermolysis bullosa simplex with nail dystrophy AR 616487
Epidermolysis Bullosa Simplex With Pyloric Atresia AR 612138
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 AR 615425
Epidermolysis Bullosa Simplex, Cockayne-Touraine Type AD 131800
Epidermolysis Bullosa Simplex, Ogna Type AD 131950
Epidermolysis Bullosa With Pyloric Atresia AR 226730
Epilepsy, Childhood Absence 5 612269
Epileptic Encephalopathy, Early Infantile, 43 AD 617113
Essential Hypertension MF 145500
Fallot Tetralogy AD 187500
Familial Cancer Of Breast 114480
Familial Colorectal Cancer 114500
Familial Medullary Thyroid Carcinoma AD 155240
Familial Non-Hodgkin Lymphoma 605027
Fanconi Anemia, Complementation Group A AR 227650
Fanconi Anemia, Complementation Group B XL 300514
Fanconi Anemia, Complementation Group C AR 227645
Fanconi Anemia, Complementation Group D1 AR 605724
Fanconi Anemia, Complementation Group D2 AR 227646
Fanconi Anemia, Complementation Group G 614082
Fanconi anemia, Complementation Group Q AR 615272
Feingold Syndrome 1 AD 164280
Feingold Syndrome 2 AD 614326
FG Syndrome 2 XL 300321
FILS syndrome AR 615139
Focal Segmental Glomerulosclerosis 2 AD 603965
Focal Segmental Glomerulosclerosis 9 AR 616220
Fraser Syndrome AR 219000
Fraser Syndrome 2 AR 617666
Frasier Syndrome AD 136680
Frontometaphyseal Dysplasia XL 305620
Gastrointestinal defects and immunodeficiency syndrome AR 243150
Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial 175510
Geleophysic Dysplasia 2 AD 614185
Genitourinary and/or/brain malformation syndrome AD 618820
Gilbert Syndrome AR 143500
Glioma Susceptibility 2 613028
Glioma Susceptibility 3 AR 613029
Glucocorticoid deficiency 5 AR 617825
Greenberg Dysplasia AR 215140
Greig Cephalopolysyndactyly Syndrome AD 175700
Hajdu-Cheney Syndrome AD 102500
Hay-Wells Syndrome AD 106260
Hemophagocytic Lymphohistiocytosis, Familial, 2 AR 603553
Heterotaxy, Visceral, 4, Autosomal 613751
Heterotaxy, Visceral, 5 AD 270100
Heterotaxy, visceral, 6, autosomal recessive AR 614779
Heterotaxy, visceral, 8, autosomal AR 617205
Heterotaxy, Visceral, X-Linked XL 306955
Heterotopia, Periventricular, Autosomal Recessive AR 608097
Hirschsprung Disease 1 AD 142623
Hirschsprung Disease 2 AD 600155
Hirschsprung Disease 3 AD 613711
Hirschsprung Disease 4 AD 613712
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction AD 613870
Holoprosencephaly 13, X-linked XL 301043
Holoprosencephaly 3 AD 142945
Holoprosencephaly 5 AD 609637
Holoprosencephaly 9 AD 610829
Holt-Oram Syndrome AD 142900
Homocystinuria due to MTHFR Deficiency AR 236250
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 AR 615219
Hypoplastic Left Heart Syndrome 2 AD 614435
Hypothyroidism, Congenital, Nongoitrous, 5 AD 225250
Idiopathic Hypereosinophilic Syndrome 607685
IMAGE Syndrome AD 614732
IMAGE-I syndrome AR 618336
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 AR 612783
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked XL 300048
Iridogoniodysgenesis, Dominant Type AD 137600
Isolated X-Linked Adrenal Hypoplasia Congenita XL 300200
Kabuki Syndrome 1 AD 147920
Kabuki Syndrome 2 XL 300867
Kallmann Syndrome 5 AD 612370
Leukocyte Adhesion Deficiency Type 1 AR 116920
Leukodystrophy, Hypomyelinating, 4 AR 612233
Limb-Girdle Muscular Dystrophy, Type 2F AR 601287
Limb-Mammary Syndrome AD 603543
Lucey-Driscoll Syndrome AR 237900
Macrocephaly/Autism Syndrome AD 605309
Malignant Mesothelioma 156240
Mandibulofacial dysostosis, Guion-Almeida type AD 610536
Manitoba Oculotrichoanal Syndrome AR 248450
Marfan lipodystrophy syndrome AD 616914
Marfan Syndrome AD 154700
Mass Syndrome AD 604308
Maturity-Onset Diabetes Of The Young, Type 4 606392
Maturity-Onset Diabetes Of The Young, Type 5 AD 137920
Mckusick Kaufman Syndrome AR 236700
Meacham Syndrome 608978
Meconium ileus AR 614665
MECP2 Duplication Syndrome XL 300260
Medulloblastoma 155255
Melnick-Needles Syndrome XL 309350
Meningioma, Familial 607174
Mental Retardation, Autosomal Dominant 23 AD 615761
Mental Retardation, Autosomal Dominant 50 AD 617787
Mental Retardation, X-Linked 102 XL 300958
Mental retardation, X-linked 106 XL 300997
Mental Retardation, X-linked 49 XL 300114
Mental Retardation, X-Linked, Syndromic 13 XL 300055
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 AR 251270
Microphthalmia Syndromic 3 AD 206900
Microphthalmia, Isolated, With Coloboma 5 AD 611638
Microphthalmia, syndromic 12 AD 615524
Miller Syndrome AR 263750
Mitchell-Riley syndrome AR 615710
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2 AR 614052
Mowat-Wilson Syndrome AD 235730
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome AR 614080
Multiple Endocrine Neoplasia, Type 2A AD 171400
Multiple Endocrine Neoplasia, Type 2B AD 162300
Multiple Synostoses Syndrome 1 AD 186500
Muscular Dystrophy, Limb-Girdle, Type 2Q AR 613723
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies AR 618975
Myopathy, tubular aggregate AD 160565
Nance-Horan Syndrome XL 302350
Nemaline Myopathy 2 AR 256030
Nephrotic syndrome, type 4 AD 256370
Netherton Syndrome AR 256500
Neural Tube Defects, Folate-Sensitive AR 601634
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures AD 618088
Neurodevelopmental disorder, X-linked, with craniofacial abnormalities XL 301022
Neuropathy, Hereditary Sensory and Autonomic, Type VI AR 614653
Non-Herlitz Junctional Epidermolysis Bullosa AR 226650
Opitz G/BBB Syndrome, Type I XL 300000
Orofacial cleft 8 618149
Orofaciodigital syndrome XVII AR 617926
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
Pallister-Hall Syndrome AD 146510
Pancreatic agenesis 2 AR 615935
Pancreatic agenesis and congenital heart defects AD 600001
Pancreatic Agenesis, Congenital AR 260370
Pancreatic Cancer 2 613347
Pancreatitis, Chronic AD 167800
Paragangliomas 7 AD 618475
Pelger-Huet Anomaly AD 169400
Pelger-Huet anomaly with mild skeletal anomalies 618019
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss AD 614369
Periventricular nodular heterotopia 9 AD 618918
Pheochromocytoma AD 171300
Pitt-Hopkins-like syndrome 2 AR 614325
Polydactyly Preaxial Type 4 AD 174700
Polydactyly, Postaxial, Type A1 AD 174200
Progressive Intrahepatic Cholestasis AR 211600
Prostate Cancer 176807
Rapp-Hodgkin Ectodermal Dysplasia Syndrome AD 129400
Renal Cell Carcinoma, Nonpapillary 144700
Retinitis pigmentosa 80 AR 617781
Rett Syndrome XL 312750
Reynolds Syndrome AD 613471
Ring Dermoid Of Cornea AD 180550
Sandestig-Stefanova syndrome AR 618804
Schizencephaly 269160
Schizophrenia AD 181500
Schizophrenia 17 614332
Schwartz Jampel Syndrome Type 1 AR 255800
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities AR 602471
Short-rib thoracic dysplasia 20 with polydactyly AR 617925
Short-Rib Thoracic Dysplasia 3 with or without Polydactyly AR 613091
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly AR 266920
Single Upper Central Incisor AD 147250
Small patella syndrome AD 147891
Smith-Lemli-Opitz Syndrome AR 270400
Sotos' Syndrome AD 117550
Spastic Paraplegia 13 AD 605280
Split-Hand/Foot Malformation 4 AD 605289
Stapes Ankylosis With Broad Thumb And Toes AD 184460
Stiff Skin Syndrome AD 184900
Stocco Dos Santos Syndrome XL 300434
Stormorken syndrome AD 185070
Stromme syndrome AR 243605
Symmetric circumferential skin creases, congenital, 2 AD 616734
Syndactyly Type 5 AD 186300
Synpolydactyly 1 AD 186000
Tarsal Carpal Coalition Syndrome AD 186570
Temple-Baraitser Syndrome AD 611816
Terminal Osseous Dysplasia XL 300244
Testicular Anomalies with or without Congenital Heart Disease AD 615542
Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator 612348
Thrombosis, Susceptibility To AD 188050
Transcobalamin II Deficiency AR 275350
Trigonocephaly 2 AD 614485
VACTERL Association With Hydrocephaly, X-Linked XL 314390
Velocardiofacial Syndrome AD 192430
Ventricular Septal Defect 1 AD 614429
Ventricular Septal Defect 3 AD 614432
Ventriculomegaly with Cystic Kidney Disease AR 219730
Waardenburg Syndrome, Type 4A AD 277580
Waardenburg Syndrome, Type 4B AD 613265
Weill-Marchesani Syndrome 2 AD 608328
White-Sutton Syndrome AD 616364
Wilms' Tumor 194070
Winchester syndrome 277950
Witteveen-Kolk Syndrome AD 613406
X-Linked Periventricular Heterotopia XL 300049
Xeroderma Pigmentosum, Complementation Group F AR 278760
XFE Progeroid Syndrome AR 610965
Zimmermann-Laband Syndrome 1 AD 135500
ZTTK Syndrome AD 617140
{Autism, susceptibility to, 20} AD 618830
{Diabetes mellitus, noninsulin-dependent, 5} 616087

Related Test

Name
PGxome®

Citations

  • Asindi et al. 2002. PubMed ID: 12370716
  • Bellchambers and Ware. 2018. PubMed ID: 29442328
  • Bishop et al. 2020. PubMed ID: 31167209
  • Heuckeroth. 2018. PubMed ID: 29300049
  • Human Gene Mutation Database (Biobase).
  • Jardine et al. 2018 PubMed ID: 30553809
  • Kusafuka et al. 1996. PubMed ID: 8852658
  • Neves et al. 2018. PubMed ID: 29174094
  • Nicolaides et al. 1992. PubMed ID: 1386985
  • Sancandi et al. 2000. PubMed ID: 10646792
  • Sigmon et al. 2020. PubMed ID: 29261981
  • Stanescu et al. 2017. PubMed ID: 28601177
  • Svensson et al. 1999. PubMed ID: 10231870
  • Wilson et al. 2020. PubMed ID: 31424831
  • Wright. 2019. PubMed ID: 31481373
  • Zwink et al. 2011. PubMed ID: 21586115

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