XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

If cutting and pasting from another document, please be sure to list EITHER one gene symbol per line OR enter a comma-separated list.


OR

SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

You may also use this search to review average exome sequencing coverage by entering the gene symbol below.

SELECTED GENES FOR YOUR SLICE

What do you want to do?

Place an e-order of this Slice on a specific patient through the GeneDx Portal  
Obtain a Slice ID to order testing with a printed requisition form  
Only email the gene list to myself and/or others at this time  


 
Phenotypes
Hypouricemia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
HNF4A20q13.12100%gene with protein product600281TCF14, MODY, MODY1Abnormality of fatty-acid metabolism; Agitation; Aminoaciduria; Autosomal dominant inheritance; Coma; Diabetes mellitus; Diarrhea; Drowsiness; Elevated alkaline phosphatase; Elevated hepatic transaminases; Fasting hypoglycemia; Fatigue; Glycosuria; Hepatomegaly; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperphosphaturia; Hypoglycemia; Hypoketotic hypoglycemia; Hypophosphatemic rickets; Hypouricemia; Increased hepatic glycogen content; Intellectual disability; Large for gestational age; Lethargy; Maturity-onset diabetes of the young; Metabolic ketoacidosis; Multicystic kidney dysplasia; Neonatal hypoglycemia; Neonatal hypotonia; Nephrocalcinosis; Pallor; Pancreatic islet-cell hyperplasia; Progressive neurologic deterioration; Proteinuria; Renal Fanconi syndrome; Rickets; Seizures; Short stature; Tachycardia; Tremor; Vomiting
MOCOS18q12.2100%gene with protein product613274Autosomal recessive inheritance; Hypouricemia
MOCS16p21.2100%gene with protein product603707Absent urinary urothione; Aldehyde oxidase deficiency; Autosomal recessive inheritance; Axonal loss; Cerebral atrophy; Decreased urinary sulfate; Decreased urinary urate; Ectopia lentis; Feeding difficulties in infancy; Frontal bossing; Full cheeks; Gliosis; Growth delay; Hypertelorism; Hypoplasia of the corpus callosum; Hypouricemia; Increased urinary hypoxanthine; Increased urinary sulfite; Increased urinary taurine; Increased urinary thiosulfate; Intellectual disability; Long face; Long philtrum; Macrocephaly; Microcephaly; Molybdenum cofactor deficiency; Myoclonic spasms; Nystagmus; Opisthotonus; Peripheral demyelination; Progressive; Reduced xanthine dehydrogenase activity; Seizures; Short nose; Spastic tetraparesis; Spastic tetraplegia; Sulfite oxidase deficiency; Thick vermilion border; Ventriculomegaly; Xanthine nephrolithiasis; Xanthinuria
MOCS25q11.2100%gene with protein product603708Autosomal recessive inheritance; Axonal loss; Cerebral atrophy; Ectopia lentis; Feeding difficulties; Frontal bossing; Full cheeks; Gliosis; Growth delay; Hypertelorism; Hypoplasia of the corpus callosum; Hypouricemia; Increased urinary hypoxanthine; Increased urinary taurine; Long face; Long philtrum; Macrocephaly; Microcephaly; Molybdenum cofactor deficiency; Myoclonic spasms; Nystagmus; Opisthotonus; Peripheral demyelination; Progressive; Short nose; Spastic tetraplegia; Thick vermilion border; Ventriculomegaly; Xanthine nephrolithiasis; Xanthinuria
PNP14q11.2100%gene with protein product164050NPAbnormality of B cell physiology; Ataxia; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; Behavioral abnormality; Cerebral vasculitis; Failure to thrive; Generalized hypotonia; Hypouricemia; Impaired T cell function; Intellectual disability; Lymph node hypoplasia; Lymphoma; Lymphopenia; Motor delay; Otitis media; Pneumonia; Recurrent bacterial infections; Recurrent lower respiratory tract infections; Recurrent opportunistic infections; Recurrent upper respiratory tract infections; Recurrent urinary tract infections; Recurrent viral infections; Sinusitis; Spastic diplegia; Splenomegaly; Tetraparesis; TremorAutoimmune Disorders ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency; Rhabdomyolysis
SLC22A1211q13.199.99%gene with protein product607096Acute kidney injury; Autosomal recessive inheritance; Hypouricemia; Increased urinary urate; Uric acid nephrolithiasis
SLC2A23q26.2100%gene with protein product138160GLUT2Abdominal distention; Autosomal recessive inheritance; Chronic acidosis; Elevated alkaline phosphatase; Failure to thrive; Generalized aminoaciduria; Global developmental delay; Glycosuria; Hyperphosphaturia; Hypokalemia; Hypophosphatemia; Hypouricemia; Impairment of galactose metabolism; Malabsorption; Osteomalacia; Poor appetite; Reduced subcutaneous adipose tissue; Renal tubular dysfunctionInflammatory Bowel Disease
SLC2A94p16.1100%gene with protein product606142Autosomal dominant inheritance; Autosomal recessive inheritance; Hypouricemia


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome