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
Glutaric acidemia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ETFA15q24.2-q24.99.95%gene with protein product608053Abnormal facial shape; Abnormality of the genital system; Abnormality of the pinna; Autosomal recessive inheritance; Congenital cataract; Defective dehydrogenation of isovaleryl CoA and butyryl CoA; Depressed nasal bridge; Electron transfer flavoprotein-ubiquinone oxidoreductase defect; Ethylmalonic aciduria; Generalized aminoaciduria; Gliosis; Glutaric acidemia; Glutaric aciduria; Glycosuria; Hepatic periportal necrosis; Hepatic steatosis; Hepatomegaly; High forehead; Hypoglycemia; Hypoglycemic coma; Jaundice; Macrocephaly; Muscle weakness; Muscular hypotonia; Nausea; Neonatal death; Pachygyria; Polycystic kidney dysplasia; Proximal tubulopathy; Pulmonary hypoplasia; Renal cortical cysts; Respiratory distress; Telecanthus; Vomiting; Wide anterior fontanelRhabdomyolysis
ETFB19q13.41100%gene with protein product130410Abnormal facial shape; Abnormality of the genital system; Abnormality of the pinna; Autosomal recessive inheritance; Congenital cataract; Defective dehydrogenation of isovaleryl CoA and butyryl CoA; Depressed nasal bridge; Electron transfer flavoprotein-ubiquinone oxidoreductase defect; Ethylmalonic aciduria; Generalized aminoaciduria; Gliosis; Glutaric acidemia; Glutaric aciduria; Glycosuria; Hepatic periportal necrosis; Hepatic steatosis; Hepatomegaly; High forehead; Hypoglycemia; Hypoglycemic coma; Jaundice; Macrocephaly; Muscle weakness; Muscular hypotonia; Nausea; Neonatal death; Pachygyria; Polycystic kidney dysplasia; Proximal tubulopathy; Pulmonary hypoplasia; Renal cortical cysts; Respiratory distress; Telecanthus; Vomiting; Wide anterior fontanelRhabdomyolysis
ETFDH4q32.199.97%gene with protein product231675Abnormal facial shape; Abnormality of the genital system; Abnormality of the pinna; Autosomal recessive inheritance; Congenital cataract; Defective dehydrogenation of isovaleryl CoA and butyryl CoA; Depressed nasal bridge; Electron transfer flavoprotein-ubiquinone oxidoreductase defect; Ethylmalonic aciduria; Generalized aminoaciduria; Gliosis; Glutaric acidemia; Glutaric aciduria; Glycosuria; Hepatic periportal necrosis; Hepatic steatosis; Hepatomegaly; High forehead; Hypoglycemia; Hypoglycemic coma; Jaundice; Macrocephaly; Muscle weakness; Muscular hypotonia; Nausea; Neonatal death; Pachygyria; Polycystic kidney dysplasia; Proximal tubulopathy; Pulmonary hypoplasia; Renal cortical cysts; Respiratory distress; Telecanthus; Vomiting; Wide anterior fontanelRhabdomyolysis
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


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