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Congenital Diarrhea and Enteropathies Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
ACTG2 81479,81479
ADA 81479,81479
ADAM17 81479,81479
AICDA 81479,81479
AIRE 81406,81479
ALPI 81479,81479
ANGPTL3 81479,81479
AP3B1 81479,81479
AP3D1 81479,81479
APOB 81479,81479
ARPC1B 81479,81479
ARX 81404,81403
ATM 81408,81479
BCL10 81479,81479
BLOC1S3 81479,81479
BLOC1S6 81479,81479
BMPR1A 81479,81479
BTK 81406,81479
CARD11 81479,81479
CARD9 81479,81479
CASP10 81479,81479
CASP8 81479,81479
CCBE1 81479,81479
CD19 81479,81479
CD3G 81479,81479
CD40LG 81404,81479
CD55 81479,81479
CD79B 81479,81479
CD81 81479,81479
CFTR 81223,81222
COL7A1 81479,81479
CR2 81479,81479
CTLA4 81479,81479
CTRC 81405,81479
CYBA 81479,81479
CYBB 81479,81479
CYP27A1 81479,81479
DCLRE1C 81479,81479
DGAT1 81479,81479
DKC1 81479,81479
DNAJC21 81479,81479
DOCK8 81479,81479
DTNBP1 81479,81479
DUOX2 81479,81479
EGFR 81479,81479
ELANE 81479,81479
ELF4 81479,81479
EPCAM 81479,81403
FADD 81479,81479
FAS 81479,81479
FASLG 81479,81479
FLNA 81479,81479
FOXP3 81479,81479
G6PC3 81479,81479
GUCY2C 81479,81479
HPS1 81479,81479
HPS3 81479,81479
HPS4 81479,81479
HPS5 81479,81479
HPS6 81479,81479
ICOS 81479,81479
IKBKG 81479,81479
IL10 81479,81479
IL10RA 81479,81479
IL10RB 81479,81479
IL21 81479,81479
IL2RA 81479,81479
IL2RG 81405,81479
ITCH 81479,81479
ITGAV 81479,81479
ITGB2 81479,81479
ITK 81479,81479
KMT2D 81479,81479
KRAS 81405,81479
LCT 81479,81479
LIG4 81479,81479
LIPA 81479,81479
LMAN1 81479,81479
LRBA 81479,81479
MAGT1 81479,81479
MALT1 81479,81479
MASP2 81479,81479
MBL2 81479,81479
MEFV 81404,81479
MGAM 81479,81479
MS4A1 81479,81479
MTTP 81479,81479
MVK 81479,81479
MYO5B 81479,81479
NCF2 81479,81479
NCF4 81479,81479
NCKAP1L 81479,81479
NEUROG3 81479,81479
NFAT5 81479,81479
NFKB2 81479,81479
NLRC4 81479,81479
NOD2 81479,81479
NOX1 81479,81479
NRAS 81479,81479
PCSK1 81479,81479
PIK3CD 81479,81479
PIK3R1 81479,81479
PLCG2 81479,81479
PLVAP 81479,81479
PNLIP 81479,81479
PRSS1 81404,81479
RAG1 81479,81479
RAG2 81479,81479
RFX6 81479,81479
RIPK1 81479,81479
RTEL1 81479,81479
SAMD9 81479,81479
SAR1B 81479,81479
SBDS 81479,81479
SH2D1A 81404,81403
SI 81479,81479
SKIC2 81479,81479
SKIC3 81479,81479
SLC10A2 81479,81479
SLC26A3 81479,81479
SLC2A2 81479,81479
SLC37A4 81406,81479
SLC39A4 81479,81479
SLC51B 81479,81479
SLC5A1 81479,81479
SLC7A7 81479,81479
SLC9A3 81479,81479
SLCO2A1 81479,81479
SMAD2 81479,81479
SMAD3 81479,81479
SPINK1 81404,81479
SPINT2 81479,81479
STAT1 81479,81479
STAT3 81479,81479
STIM1 81479,81479
STX3 81479,81479
STXBP2 81479,81479
SYK 81479,81479
TERT 81479,81479
TGFB1 81479,81479
TGFB2 81479,81479
TGFBR1 81405,81479
TGFBR2 81405,81479
TMPRSS15 81479,81479
TNFAIP3 81479,81479
TNFRSF13C 81479,81479
TREH 81479,81479
TRIM22 81479,81479
TTC7A 81479,81479
UBR1 81479,81479
UBR5 81479,81479
WAS 81406,81479
WDR1 81479,81479
WNT2B 81479,81479
XIAP 81479,81479
ZAP70 81479,81479
ZFP57 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
12647Genes x (157)81479 81222(x1), 81223(x1), 81403(x3), 81404(x6), 81405(x5), 81406(x4), 81408(x1), 81479(x293) $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.


Genetic Counselors


  • Chansonette Badduke, PhD

Clinical Features and Genetics

Clinical Features

Congenital diarrheas and enteropathies are rare inherited disorders characterized by persistent and severe diarrhea that often presents within the first few months of life. They are life-threatening, and requires medical intervention in the form of parenteral (IV) nutrition or hydration (Thiagarajah et al. 2018. PubMed ID: 29654747). At the molecular level, congenital diarrheas and enteropathies result directly from disruption of the intestinal epithelial cell function or from immune system dysfunction that secondarily impairs intestinal epithelium function (Canani et al. 2015. PubMed ID: 25782092). While intractable diarrhea is the major clinical feature, congenital diarrheas and enteropathies can present with extraintestinal manifestations as well as systemic disease (Thiagarajah et al. 2018. PubMed ID: 29654747). The worldwide incidence of most congenital diarrheas and enteropathies remains unknown, with some occurring more frequently in ethnic groups where consanguineous marriage is prevalent or in some geographic regions due to founder effects (Canani et al. 2015. PubMed ID: 25782092).

Chronic diarrheas represent a group of clinically and genetically heterogeneous disorders that are usually acquired through environmental exposures to allergens or infections, but may also be inherited (Thiagarajah et al. 2018. PubMed ID: 29654747). Studies suggest approximately 7 in 1,000 newborns admitted to neonatal intensive care units are admitted for diarrhea, of these approximately 57% of neonatal diarrhea cases are acquired, 13% are inherited, and the remainder are of an unknown etiology (Passariello et al. 2010. PubMed ID: 20518089).

A molecular diagnosis may aid in implementation of a therapeutic strategy for patients with a congenital diarrhea or enteropathy. For example, bone marrow transplant is a possible therapy in the context of immune system dysfunction (Glocker et al. 2009. PubMed ID: 19890111; Uhlig and Muise. 2017. PubMed ID: 28755896, Zheng et al. 2018. PubMed ID: 29788367), while dietary intervention or enzyme replacement treatments may be therapeutic in the context of intestinal epithelial cell dysfunction (van Rijn et al. 2018. PubMed ID: 29604290, Ye et al. 2018. PubMed ID: 30308536; Ma et al. 2019. PubMed ID: 31415402). In a recent study, 59.9% of patients with chronic diarrhea that was not likely to be acquired in early infancy were diagnosed with medically actionable genetic disorders (Ye et al. 2019. PubMed ID: 30894704). Patients and their families may also benefit from a molecular diagnosis for prognostic information, symptom management, and reproductive planning.


This test includes genes identified through literature, OMIM, and HGMD searches that have been reported to be associated with chronic diarrhea. Mendelian forms of diarrhea are most often inherited in an autosomal recessive (AR) manner but may also be inherited in an autosomal dominant (AD) or X-linked (XL) manner or arise de novo.

Among congenital diarrheas and enteropathies resulting from defects in intestinal epithelial cell function, the most prevalent may be due to defects in nutrient metabolism. For example, biallelic pathogenic variants in the SI gene result in congenital sucrose-isomaltase deficiency, a carbohydrate intolerance disorder characterized by the malabsorption of certain sugar molecules, with an estimated incidence of 1 in 5,000 in Europe (Swallow et al. 2001. PubMed ID: 11259342). Defects in enterocyte structure may also be among the most prevalent of congenital diarrheas and enteropathies. Biallelic pathogenic variants in the EPCAM gene, for example, impair proper enterocyte development and differentiation, resulting in autosomal recessive congenital tufting enteropathy, which has been estimated at an incidence of 1 in 50,000-100,000 births in Western Europe (Goulet et al. 2007. PubMed ID: 17448233). The prevalence of congenital diarrheas and enteropathies resulting from immune system dysfunction has not been established. However, in a recent study of patients with chronic diarrhea not likely to be acquired, 70% of patients with a molecular diagnosis had chronic diarrhea due to defects in immune system dysfunction (Ye et al. 2019. PubMed ID: 30894704).

A wide variety of causative variants in these genes 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 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. This panel includes all of the genes identified through sequence analysis of the largest cohort of patients with a congenital diarrhea or enteropathy published to date. In this study, patients were included for an indication of chronic diarrhea in early infancy, while patients with acquired diarrheas (allergic disorders, neonatal necrotizing enterocolitis, and short bowel syndrome) were excluded. A genetic diagnostic rate of 75% among neonates, and 64% overall was achieved (Ye et al. 2019. PubMed ID: 30894704). 

Testing Strategy

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

This panel typically provides 96.8% 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. 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

This test is suitable for patients presenting with early-onset chronic diarrhea, failure to thrive, feeding intolerance, malabsorption, or multi-system involvement.


Official Gene Symbol OMIM ID
ACTG2 102545
ADA 608958
ADAM17 603639
AICDA 605257
AIRE 607358
ALPI 171740
ANGPTL3 604774
AP3B1 603401
AP3D1 607246
APOB 107730
ARPC1B 604223
ARX 300382
ATM 607585
BCL10 603517
BLOC1S3 609762
BLOC1S6 604310
BMPR1A 601299
BTK 300300
CARD11 607210
CARD9 607212
CASP10 601762
CASP8 601763
CCBE1 612753
CD19 107265
CD3G 186740
CD40LG 300386
CD55 125240
CD79B 147245
CD81 186845
CFTR 602421
COL7A1 120120
CR2 120650
CTLA4 123890
CTRC 601405
CYBA 608508
CYBB 300481
CYP27A1 606530
DCLRE1C 605988
DGAT1 604900
DKC1 300126
DNAJC21 617048
DOCK8 611432
DTNBP1 607145
DUOX2 606759
EGFR 131550
ELANE 130130
ELF4 300775
EPCAM 185535
FADD 602457
FAS 134637
FASLG 134638
FLNA 300017
FOXP3 300292
G6PC3 611045
GUCY2C 601330
HPS1 604982
HPS3 606118
HPS4 606682
HPS5 607521
HPS6 607522
ICOS 604558
IKBKG 300248
IL10 124092
IL10RA 146933
IL10RB 123889
IL21 605384
IL2RA 147730
IL2RG 308380
ITCH 606409
ITGAV 193210
ITGB2 600065
ITK 186973
KMT2D 602113
KRAS 190070
LCT 603202
LIG4 601837
LIPA 613497
LMAN1 601567
LRBA 606453
MAGT1 300715
MALT1 604860
MASP2 605102
MBL2 154545
MEFV 608107
MGAM 154360
MS4A1 112210
MTTP 157147
MVK 251170
MYO5B 606540
NCF2 608515
NCF4 601488
NCKAP1L 141180
NEUROG3 604882
NFAT5 604708
NFKB2 164012
NLRC4 606831
NOD2 605956
NOX1 300225
NRAS 164790
PCSK1 162150
PIK3CD 602839
PIK3R1 171833
PLCG2 600220
PLVAP 607647
PNLIP 246600
PRSS1 276000
RAG1 179615
RAG2 179616
RFX6 612659
RIPK1 603453
RTEL1 608833
SAMD9 610456
SAR1B 607690
SBDS 607444
SH2D1A 300490
SI 609845
SKIC2 600478
SKIC3 614589
SLC10A2 601295
SLC26A3 126650
SLC2A2 138160
SLC37A4 602671
SLC39A4 607059
SLC51B 612085
SLC5A1 182380
SLC7A7 603593
SLC9A3 182307
SLCO2A1 601460
SMAD2 601366
SMAD3 603109
SPINK1 167790
SPINT2 605124
STAT1 600555
STAT3 102582
STIM1 605921
STX3 600876
STXBP2 601717
SYK 600085
TERT 187270
TGFB1 190180
TGFB2 190220
TGFBR1 190181
TGFBR2 190182
TMPRSS15 606635
TNFAIP3 191163
TNFRSF13C 606269
TREH 275360
TRIM22 606559
TTC7A 609332
UBR1 605981
UBR5 608413
WAS 300392
WDR1 604734
WNT2B 601968
XIAP 300079
ZAP70 176947
ZFP57 612192
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Acrodermatitis Enteropathica AR 201100
Agammaglobulinemia 6, Autosomal Recessive AR 612692
Agammaglobulinemia 7, Autosomal Recessive AR 615214
Alpha, Alpha-Trehalase Deficiency AR 612119
Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity AR 609889
Aml - Acute Myeloid Leukemia 601626
Aplastic Anemia 609135
Arteriovenous Malformations Of The Brain 108010
Ataxia-Telangiectasia Syndrome AR 208900
Atypical Mycobacteriosis, Familial, X-Linked 2 XL 300645
Autoimmune Disease, Multisystem, Infantile-Onset, 1 AD 615952
Autoimmune disease, multisystem, infantile-onset, 2 AR 617006
Autoimmune Disease, Syndromic Multisystem AR 613385
Autoimmune Lymphoproliferative Syndrome AD 601859
Autoimmune Lymphoproliferative Syndrome, Type 2 AD 603909
Autoimmune Lymphoproliferative Syndrome, Type V AD 616100
Autoinflammation with episodic fever and lymphadenopathy AD 618852
Autoinflammation with Infantile Enterocolitis AD 616050
Autoinflammation, antibody deficiency, and immune dysregulation syndrome AD 614878
Autoinflammatory Syndrome, Familial, Behcet-like AD 616744
B-cell expansion with NFKB and T-cell anergy AD 616452
Bile Acid Malabsorption, Primary AR 613291
Bladder Cancer 109800
Blood Group, Cromer System AR 613793
Body Mass Index Quantitative Trait Locus 12 612362
Bone Marrow Failure Syndrome 3 AR 617052
Bronchiectasis AD 211400
Camurati-Engelmann Disease AD 131300
Candidiasis, Familial, 2 AR 212050
Candidiasis, Familial, 7 AD 614162
Cardiac Valvular Dysplasia, X-Linked XL 314400
Cardiofaciocutaneous syndrome 2 AD 615278
Caspase-8 Deficiency AR 607271
Celiac Disease 3 AD 609755
Cerebrotendinous Xanthomatosis AR 213700
Chylomicron Retention Disease AR 246700
Combined Cellular And Humoral Immune Defects With Granulomas AR 233650
Combined Immunodeficiency, X-Linked XL 312863
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy AR 226300
Congenital Bilateral Absence Of The Vas Deferens AR 277180
Congenital disorder of glycosylation, type Icc XL 301031
Congenital Glucose-Galactose Malabsorption AR 606824
Congenital Human Immunodeficiency Virus 609423
Congenital Lactase Deficiency AR 223000
Congenital Microvillous Atrophy AR 251850
Congenital Secretory Diarrhea, Chloride Type AR 214700
Congenital Secretory Diarrhea, Sodium Type AR 270420
Cyclical Neutropenia AD 162800
Cystic Fibrosis AR 219700
Diabetes Mellitus, Insulin-Dependent, 10 AR 601942
Diabetes Mellitus, Insulin-Dependent, 12 AD 601388
Diabetes Mellitus, Noninsulin-Dependent AD 125853
Diarrhea 10, protein-losing enteropathy type AR 618183
Diarrhea 4, Malabsorptive, Congenital AR 610370
Diarrhea 5, With Tufting Enteropathy, Congenital AR 613217
Diarrhea 6 AD 614616
Diarrhea 7, protein-losing enteropathy type AR 615863
Diarrhea 8, secretory sodium, congenital AR 616868
Diarrhea 9 AR 618168
Dominant Dystrophic Epidermolysis Bullosa With Absence Of Skin AD 132000
Dyskeratosis Congenita X-Linked XL 305000
Dyskeratosis Congenita, Autosomal Dominant 4 AD 615190
Dyskeratosis Congenita, Autosomal Dominant, 2 AD 613989
Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema XL 300301
Enterokinase Deficiency AR 226200
Epidermal Nevus 162900
Epidermolysis Bullosa Pruriginosa AD 604129
Epidermolysis Bullosa, Pretibial AD 131850
Epileptic encephalopathy, early infantile, 1 XL 308350
Esophageal Cancer 133239
Factor V And Factor VIII, Combined Deficiency Of, 1 AR 227300
Familial Cancer Of Breast 114480
Familial cold autoinflammatory syndrome 3 AD 614468
Familial cold autoinflammatory syndrome 4 AD 616115
Familial Colorectal Cancer 114500
Familial Hypobetalipoproteinemia AR 200100
Familial Mediterranean Fever AR 249100
Familial Mediterranean Fever, Autosomal Dominant AD 134610
Familial Non-Hodgkin Lymphoma 605027
Fanconi-Bickel Syndrome AR 227810
FG Syndrome 2 XL 300321
Frontometaphyseal Dysplasia XL 305620
Gastric Lymphoma AR 137245
Gastrointestinal defects and immunodeficiency syndrome AR 243150
Generalized Dominant Dystrophic Epidermolysis Bullosa AD 131750
Glycogen Storage Disease Type Ib AR 232220
Glycogen Storage Disease Type Ic AR 232240
Graft-Versus-Host Disease, Susceptibility To 614395
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Negative AR 233690
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type II AR 233710
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type III AR 613960
Granulomatous Disease, Chronic, X-Linked XL 306400
Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial AD 186580
Hashimoto Thyroiditis AD 140300
Hemophagocytic lymphohistiocytosis, Familial, 5 613101
Hennekam Syndrome AR 235510
Hepatitis B Virus, Susceptibility To 610424
Hereditary Diffuse Gastric Cancer 137215
Hereditary Mixed Polyposis Syndrome 2 610069
Hereditary Nonpolyposis Colorectal Cancer Type 6 614331
Hermansky-Pudlak Syndrome 1 AR 203300
Hermansky-Pudlak Syndrome 10 AR 617050
Hermansky-Pudlak Syndrome 2 AR 608233
Hermansky-Pudlak Syndrome 3 AR 614072
Hermansky-Pudlak Syndrome 4 AR 614073
Hermansky-Pudlak Syndrome 5 AR 614074
Hermansky-Pudlak Syndrome 6 AR 614075
Hermansky-Pudlak Syndrome 7 AR 614076
Hermansky-Pudlak Syndrome 8 AR 614077
Hermansky-Pudlak Syndrome 9 AR 614171
Hypercholesterolemia, Autosomal Dominant, Type B AD 144010
Hyperimmunoglobulin D With Periodic Fever AR 260920
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive AR 243700
Hyperimmunoglobulin E Syndrome AD 147060
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 AR 614441
Hypobetalipoproteinemia AR 615558
Hypobetalipoproteinemia, Familial, 2 AR 605019
Hypohidrotic Ectodermal Dysplasia With Immune Deficiency XL 300291
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 AR 612783
Immunodeficiency 11A AR 615206
Immunodeficiency 11B with atopic dermatitis AD 617638
Immunodeficiency 12 AR 615468
Immunodeficiency 14 AD 615513
Immunodeficiency 17, CD3 gamma deficient AR 615607
Immunodeficiency 31A, mycobacteriosis, autosomal dominant AD 614892
Immunodeficiency 36 AD 616005
Immunodeficiency 37 AR 616098
Immunodeficiency 48 AR 269840
Immunodeficiency 57 AR 618108
Immunodeficiency 72 with autoinflammation AR 618982
Immunodeficiency With Hyper Igm Type 1 XL 308230
Immunodeficiency With Hyper IgM Type 2 AR 605258
Immunodeficiency Without Anhidrotic Ectodermal Dysplasia XL 300584
Immunodeficiency, Common Variable, 1 AR 607594
Immunodeficiency, common variable, 10 AD 615577
Immunodeficiency, common variable, 11 AR 615767
Immunodeficiency, Common Variable, 3 AR 613493
Immunodeficiency, Common Variable, 4 AR 613494
Immunodeficiency, Common Variable, 5 AR 613495
Immunodeficiency, Common Variable, 6 AR 613496
Immunodeficiency, common variable, 7 AR 614699
Immunodeficiency, Common Variable, 8, with Autoimmunity AR 614700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia XL 300853
Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked XL 304790
Incontinentia Pigmenti XL 308300
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations AR 613759
Inflammatory Bowel Disease 1 MF 266600
Inflammatory Bowel Disease 25, Autosomal Recessive AR 612567
Inflammatory Bowel Disease 28, Autosomal Recessive AR 613148
Inflammatory bowel disease, immunodeficiency, and encephalopathy AR 618213
Inflammatory Skin And Bowel Disease, Neonatal AR 614328
Inflammatory skin and bowel disease, neonatal, 2 AR 616069
Interleukin 2 Receptor, Alpha, Deficiency Of AR 606367
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked XL 300048
Invasive Pneumococcal Disease, Recurrent Isolated, 2 XL 300640
Johanson-Blizzard Syndrome AR 243800
Juvenile Polyposis Syndrome AD 174900
Kabuki Syndrome 1 AD 147920
Leukocyte Adhesion Deficiency Type 1 AR 116920
Lig4 Syndrome AR 606593
Liver Cancer 114550
Loeys-Dietz Syndrome 1 AD 609192
Loeys-Dietz Syndrome 2 AD 610168
Loeys-Dietz Syndrome 3 AD 613795
Loeys-Dietz Syndrome 4 AD 614816
Lung Cancer 211980
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 AR 613011
Lymphoproliferative Syndrome, X-Linked, 1 XL 308240
Lymphoproliferative Syndrome, X-Linked, 2 XL 300635
Lysinuric Protein Intolerance AR 222700
Lysosomal Acid Lipase Deficiency AR 278000
Malignant Mesothelioma 156240
Mannose-Binding Protein Deficiency AD 614372
Masp2 Deficiency AR 613791
Meconium ileus AR 614665
Melanoma, Cutaneous Malignant, 9 615134
Melnick-Needles Syndrome XL 309350
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related XL 300419
Metabolic Syndrome X AD 605552
Mevalonic Aciduria AR 610377
MIRAGE syndrome AD 617053
Mitchell-Riley syndrome AR 615710
Multiple Myeloma 254500
Multiple Self Healing Squamous Epithelioma AD 132800
Mycobacterial And Viral Infections, Susceptibility To, Autosomal Recessive AR 613796
Myopathy, tubular aggregate AD 160565
Nail Disorder, Nonsyndromic Congenital, 8 AD 607523
Neoplasm Of Stomach 613659
Neurocutaneous melanosis, somatic 249400
Neutropenia, Severe Congenital, 4, Autosomal Recessive AR 612541
Noonan Syndrome 3 AD 609942
Noonan Syndrome 6 AD 613224
Oculoectodermal syndrome, somatic 600268
Omenn Syndrome AR 603554
Oto-Palato-Digital Syndrome Type 1 XL 311300
Oto-Palato-Digital Syndrome, Type II XL 304120
Pancreatic Cancer 260350
Pancreatic Lipase Deficiency AR 614338
Pancreatitis, Chronic AD 167800
Partington X-Linked Mental Retardation Syndrome XL 309510
Periodic fever, immunodeficiency, and thrombocytopenia syndrome AR 150550
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease AR 617718
Polyglandular Autoimmune Syndrome, Type 1 AD 240300
Porokeratosis, Disseminated Superficial Actinic 1 AD 175900
Proprotein Convertase 1/3 Deficiency AR 600955
Proud Levine Carpenter Syndrome XL 300004
Psoriatic Arthritis, Susceptibility To 607507
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1; PFBMFT1 AD 614742
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 AD 616373
RAS-Associated Autoimmune Leukoproliferative Disorder 614470
Recessive Dystrophic Epidermolysis Bullosa AR 226600
Rheumatoid Arthritis 180300
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200
Severe Combined Immunodeficiency Due To Ada Deficiency AR 102700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation AR 602450
Severe Congenital Neutropenia Autosomal Dominant AD 202700
Severe Congenital Neutropenia X-Linked XL 300299
Severe Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Negative, NK Cell-Positive AR 601457
SHORT syndrome AD 269880
Shwachman Syndrome AR 260400
Spitz nevus or nevus spilus, somatic 137550
Stormorken syndrome AD 185070
Sucrase-Isomaltase Deficiency AR 222900
Systemic Lupus Erythematosus AD 152700
Systemic Lupus Erythematosus 9 610927
Terminal Osseous Dysplasia XL 300244
Testicular Cancer 273300
Thrombocytopenia, X-Linked XL 313900
Thyroid Cancer, Follicular 188470
Thyroid Dyshormonogenesis 6 AR 607200
Transient Bullous Dermolysis Of The Newborn AD 131705
Transient Neonatal Diabetes Mellitus 1 AD 601410
Trichohepatoenteric syndrome 1 AR 222470
Trichohepatoenteric syndrome 2 AR 614602
Tropical Calcific Pancreatitis AD 608189
Trypsinogen Deficiency AR 614044
Tumoral Calcinosis, Normophosphatemic, Familial AR 610455
Visceral myopathy AD 155310
Wiskott-Aldrich Syndrome XL 301000
X-Linked Agammaglobulinemia XL 300755
X-Linked Agammaglobulinemia With Growth Hormone Deficiency XL 307200
X-Linked Familial Atypical Mycobacteriosis, Type 1 XL 300636
X-Linked Lissencephaly 2 XL 300215
X-Linked Periventricular Heterotopia XL 300049
X-Linked Severe Combined Immunodeficiency XL 300400
Yao syndrome MF 617321

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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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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

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