Background

ClinHero – GastroIntestinal

More than 1 in 10 people suffer from IBS symptoms! In a recent study, the average time between symptoms starting and diagnosis was 6.6 years.

Our pre-curated panels are built to provide clinical management, help in differential diagnosis decisions, and explore treatment options for tough cases in areas of clinical focus.

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Genetics and genomics are beginning to strongly influence the care of patients with GI conditions. Exome testing identifies gene / variants associated with functional disturbance, pathways involved and targetable action to facilitate improved function and epigenetic outcomes. The value of this panel of genes is in the actionable clinical evaluation and treatment approach. The following functional disturbances of the GI tract are included in this panel.

IBD:  An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21. This includes Crohn’s Disease, Ulcerative Colitis and Autoimmune Related Colitis. [1][2][3] There are several key variants that are associated with inflammatory risk and actionable movement.

IBS: A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. [4] In addition, variants identified can outline risk of other possible disease implications that can often be missed in routine diagnosis.

GERD: The retrograde movement of stomach contents into the esophagus characterizes Gastroesophageal reflux Disease (GERD). In its most severe form, GERD results in extensive tissue damage caused by acid reflux. In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus, estimated as the fifth most prevalent neoplasia in the Western world. [5] Knowing gene variant patterns can be valuable in precise diagnosis and treatment of the disease. In addition, variants identified can outline risk of other possible disease implications that can often be missed in routine diagnosis.

Nutritional / Mineral Metabolism / Transport / Hydration: The GI tract is responsible of many complex functions including nutrition, hydration, mineral metabolism and transportation of metabolites. Key elements include calcium, potassium, magnesium, copper, zinc and other trace minerals, creatine, purines and pyrroles and citrate to name a few. [6]  Poor hydration in the gut is known to increase risk of GI cancers. [7] Ion transportation is impaired in intestinal inflammation and it is essential in identifying transporting gene variants that are implicated in impaired function. [8]

[1] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3040909/

[2] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935979/

[3] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427515/

[4] http://www.nejm.org/doi/full/10.1056/NEJM199903183401101

[5] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3348221/#!po=39.2857

[6] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3735034/

[7] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4649114/

[8] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752571/

Panel Indications

Conditions To Rule Out In IBD:

  • Crohn’s Disease
  • Ulcerative Colitis
  • Autoimmune Related Colitis

Conditions To Rule Out In IBS:

  • Lactose Intolerance / Enzyme Deficiency
  • Gut Inflammation / Infection (Bacteria, Parasite, Virus, Fungal)
  • Deficiency in carbohydrate metabolism / Enzyme Deficiency
  • Malabsorption Syndrome (Carbohydrate, Fat and Protein)
  • Cathartic use risk
  • Mineral Metabolism (Magnesium, Potassium, Calcium, Etc)
  • Thyroid Disorders (Hypothyroidism, Hyperthyroidism, Autoimmune Thyroid)
  • Pancreatic Inflammation and Insufficiency
  • Depression / Anxiety
  • SIBO
  • Cancer and Adenoma Risk
  • Endocrine Tumors
  • Diabetes Mellitus
  • Environmental Factors Damaging GI Tract Integrity (Radiation, EMF, Heavy Metals)
  • Somatization

Conditions To Rule Out In GERD:

  • Infectious Esophagitis
  • Esophageal Cancer (Barrett’s Esophagus Risk)
  • Angina
  • Achalasia
  • Scleroderma
  • Peptic Ulcer Disease

This panel includes 186 genes

NOD2,  ATG16L1,  IL12B,  IL23R,  TL1A,  TNFSF15,  HLADRB1,  CARD15,  TLR4,  TLR,  IBD5,  DLG5,  CARD9,  CUL2,  IL18RAP,  IL17A,  IRGM,  LRRK2,  ULK1,  JAK2,  STAT3,  STAT4,  NATCHμ,  PSMG1,  CD,  HNF4A,  GNA12,  DUSP5,  TBC1D1,  PRDM1,  NDP52,  DLG1,  MVK,  MEFV,  PLCG2,  NLRP12,  NLRC4,  XIAP,  STXBP2,  HPS1,  HPS4,  HPS6,  FOXP3,  AIRE,  IL10,  IL10RA,  IL10RB,  SLC37A4,  GSD-1b,  G6PC3,  ITGB2,  NCF1,  NCF2,  NCF4,  CYBA,  CYBB,  WAS,  DCLRE1C,  RAG1,  RAG2,  LIG4,  ADA,  IL2RG,  CD3G,  ZAP70,  LCK,  LRBA,  ICOS,  IL21,  CTLA-4,  TNFRSF13B,  COG6,  BTK,  PIK3R1,  CD40LG,  AICDA,  CASP8,  ITCH,  MASP2,  TTC7A,  TTC37,  SKIV2L,  NEMO,  IKBKG,  GUCY2C,  COL7A1,  ADAM17,  FERMT1,  KIND1,  EGFR,  TGFBR1,  TGFBR2,  G6PC,  HLADQB1,  HLADQA1,  ADH1B,  CYP1A2,  AHR,  APOA2,  ALDOB,  MTHFR,  AANAT,  ACAT1,  ACE,  ADM,  AHCY,  BDNF,  BHMT,  BTD,  C5,  CBS,  COMT,  COQ2,  COQ3,  COX5A,  COX6C,  CYP27A1,  ENPP1,  GSS,  GSTM1,  GSTP,  IGF1,  IL6,  IL6R,  KCNJ11,  MAOA,  MAOB,  MATI1A,  MAT2B,  MTR,  MTRR,  NOS,  NOS3,  PDHA1,  PDHB,  PNMT,  PTPN22,  PTS,  QDPR,  SHMT1,  SIRT1,  SLC22A5,  SLC25A15,  SLC25A32,  SLC2A1,  SOD2,  SOUX,  TGFB1,  TNF,  TRAF1,  TRAP1,  USF1,  VDR,  ABCC2,  ABCG5,  ABCG8,  ACTG2,  ALAD,  APOA5,  APOC2,  CPOX,  CTLA4,  F12,  FTH1,  G6PD,  GP1HBP1,  HAMP,  HFE,  HFE2,  HMBS,  LCT,  LPL,  MYO9B,  NLRP3,  POLG,  PPOX,  SERPING1,  SLC16A1,  SLC40A1,  SPINK1,  TFR2,  TNFRSF1A,  TYMP,  CINH,  HBB,  RYR2, ABCB1, MDR1

This test was designed to sequence the exons and canonical splice sites (+/1,2) of a panel of 186 genes associated with the clinical management and actionable treatment options of common GI symptoms. These genetic variants can be associated with functional disturbance, pathways involved and targetable action to facilitate improved function and epigenetic outcomes. GeneSavvy has developed highly advanced protocols to target and extract variants in exonic regions, intronic regions of interest, splice sites, and untranslated gene regions of interest with the following technical specifications:

  • Mean Depth of Coverage: 50x
  • Specificity: >98%
  • Sensitivity: >94%

ClinHero GI Test Requisition

Specimen Collection Instructions

ClinHero GI Info PDF

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