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
Ketosis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
BCKDHA19q13.2100%gene with protein product608348OVD1AAtaxia; Autosomal recessive inheritance; Cerebral edema; Coma; Elevated plasma branched chain amino acids; Feeding difficulties in infancy; Generalized hypotonia; Growth abnormality; Hallucinations; Hypertonia; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Ketosis; Lactic acidosis; Lethargy; Pancreatitis; Seizures; Vomiting
BCKDHB6q14.199.91%gene with protein product248611Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Elevated plasma branched chain amino acids; Feeding difficulties in infancy; Generalized hypotonia; Growth abnormality; Hallucinations; Hypertonia; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Ketosis; Lactic acidosis; Lethargy; Pancreatitis; Seizures; Vomiting
DBT1p21.299.89%gene with protein product248610Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Elevated plasma branched chain amino acids; Feeding difficulties in infancy; Generalized hypotonia; Growth abnormality; Hallucinations; Hypertonia; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Ketosis; Lactic acidosis; Lethargy; Pancreatitis; Seizures; Vomiting
FBP19q22.32100%gene with protein product611570FBPApnea; Autosomal recessive inheritance; Coma; Dyspnea; Fever; Generalized hypotonia; Hepatomegaly; Hyperventilation; Hypoglycemia; Increased urinary glycerol; Irritability; Ketosis; Lethargy; Metabolic acidosis; Seizures; Tachycardia
GCDH19p13.13100%gene with protein product608801Abnormal facial shape; Abnormality of extrapyramidal motor function; Autosomal recessive inheritance; Choreoathetosis; Delayed myelination; Dilation of lateral ventricles; Dyskinesia; Dystonia; Encephalopathy; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Glutaric acidemia; Glutaric aciduria; Hepatomegaly; Hypoglycemia; Infantile encephalopathy; Irritability; Joint dislocation; Ketonuria; Ketosis; Large fontanelles; Macrocephaly; Metabolic acidosis; Muscular hypotonia; Opisthotonus; Prominent forehead; Rigidity; Spastic diplegia; Spasticity; Symmetrical progressive peripheral demyelination; Vomiting
GHSR3q26.31100%gene with protein product601898Abdominal pain; Decreased body weight; Decreased serum insulin-like growth factor 1; Delayed skeletal maturation; Hypoglycemia; Ketosis; Short stature; Vomiting
GYS212p12.199.96%gene with protein product138571Autosomal recessive inheritance; Fasting hypoglycemia; Glycosuria; Increased serum lactate; Irritability; Ketonuria; Ketosis; Ketotic hypoglycemia; Neonatal hypoglycemia; Postprandial hyperglycemia; Seizures
GYS212p12.199.96%gene with protein product138571Autosomal recessive inheritance; Fasting hypoglycemia; Glycosuria; Increased serum lactate; Irritability; Ketonuria; Ketosis; Ketotic hypoglycemia; Neonatal hypoglycemia; Postprandial hyperglycemia; Seizures
MLYCD16q23.3100%gene with protein product606761Abdominal pain; Autosomal recessive inheritance; Chronic constipation; Diarrhea; Generalized hypotonia; Global developmental delay; Hypertrophic cardiomyopathy; Hypoglycemia; Ketosis; Lactic acidosis; Metabolic acidosis; Seizures; Short stature; Vomiting
MMAA4q31.21100%gene with protein product607481Anemia; Autosomal recessive inheritance; Coma; Decreased adenosylcobalamin; Decreased methylmalonyl-CoA mutase activity; Dehydration; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Infantile onset; Ketonuria; Ketosis; Lethargy; Metabolic acidosis; Methylmalonic acidemia; Methylmalonic aciduria; Neutropenia; Pancytopenia; Respiratory distress; Seizures; Thrombocytopenia; Tremor; Vomiting
MMAB12q24.1199.93%gene with protein product607568Anemia; Autosomal recessive inheritance; Coma; Decreased adenosylcobalamin; Decreased methylmalonyl-CoA mutase activity; Dehydration; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Ketonuria; Ketosis; Lethargy; Metabolic acidosis; Methylmalonic acidemia; Methylmalonic aciduria; Neonatal onset; Neutropenia; Pancytopenia; Respiratory distress; Thrombocytopenia; Vomiting
PHKA2Xp22.1399.71%gene with protein product300798PHK, PYKElevated hepatic transaminases; Growth delay; Hepatomegaly; Hypercholesterolemia; Hypertriglyceridemia; Hypoglycemia; Ketosis; Motor delay; X-linked recessive inheritance
PHKG216p11.2100%gene with protein product172471Autosomal recessive inheritance; Bile duct proliferation; Cirrhosis; Elevated hepatic transaminases; Fasting hypoglycemia; Generalized hypotonia; Growth delay; Hepatomegaly; Hypertriglyceridemia; Infantile onset; Ketosis; Lactic acidosis; Motor delay; Splenomegaly
SLC37A411q23.3100%gene with protein product602671G6PT1, G6PT2, G6PT3Autosomal recessive inheritance; Chronic pancreatitis; Decreased glomerular filtration rate; Delayed puberty; Doll-like facies; Elevated hepatic transaminases; Enlarged kidney; Focal segmental glomerulosclerosis; Gout; Hematuria; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Hyperlipidemia; Hypertension; Hypoglycemia; Ketosis; Lactic acidosis; Lipemia retinalis; Metabolic acidosis; Nephrolithiasis; Neutropenia; Oral ulcer; Osteoporosis; Pancreatitis; Proteinuria; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent bacterial infections; Renal insufficiency; Short stature; Spider hemangioma; XanthelasmaAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease


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