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
Hyperglycinuria

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACADM1p31.199.99%gene with protein product607008Autosomal recessive inheritance; Cerebral edema; Coma; Decreased plasma carnitine; Elevated hepatic transaminases; Generalized hypotonia; Global developmental delay; Hepatic steatosis; Hepatomegaly; Hyperglycinuria; Hypoglycemia; Lethargy; Medium chain dicarboxylic aciduria; Metabolic acidosis; Seizures; VomitingRhabdomyolysis
ALDH4A11p36.13100%gene with protein product606811ALDH4Autosomal recessive inheritance; Hydroxyprolinuria; Hyperglycinuria; Hyperprolinemia; Intellectual disability; Prolinuria; Seizures
AMT3p21.31100%gene with protein product238310Agenesis of corpus callosum; Aggressive behavior; Autosomal recessive inheritance; Death in infancy; Encephalopathy; Generalized hypotonia; Hyperactivity; Hyperglycinemia; Hyperglycinuria; Hyperreflexia; Impulsivity; Intellectual disability; Irritability; Lethargy; Myoclonus; Recurrent singultus; Restlessness; SeizuresAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
GCSH16q23.299.99%gene with protein product238330Agenesis of corpus callosum; Aggressive behavior; Autosomal recessive inheritance; Death in infancy; Encephalopathy; Generalized hypotonia; Hyperactivity; Hyperglycinemia; Hyperglycinuria; Hyperreflexia; Impulsivity; Intellectual disability; Irritability; Lethargy; Myoclonus; Recurrent singultus; Restlessness; Seizures
GLDC9p24.199.99%gene with protein product238300Agenesis of corpus callosum; Aggressive behavior; Autosomal recessive inheritance; Death in infancy; Encephalopathy; Generalized hypotonia; Hyperactivity; Hyperglycinemia; Hyperglycinuria; Hyperreflexia; Impulsivity; Intellectual disability; Irritability; Lethargy; Myoclonus; Recurrent singultus; Restlessness; Seizures
IVD15q15.1100%gene with protein product607036Autosomal recessive inheritance; Bone marrow hypocellularity; Coma; Dehydration; Global developmental delay; Hyperglycinuria; Ketoacidosis; Lethargy; Leukopenia; Metabolic acidosis; Pancytopenia; Seizures; Thrombocytopenia; Vomiting
MCCC25q13.2100%gene with protein product609014Abnormality of leucine metabolism; Abnormality of movement; Acute hyperammonemia; Alopecia; Autosomal recessive inheritance; Coma; Failure to thrive; Failure to thrive in infancy; Feeding difficulties; Generalized hypotonia; Global developmental delay; Heterogeneous; Hyperammonemia; Hyperglycinuria; Hyperreflexia; Hypoglycemia; Intellectual disability; Ketoacidosis; Lethargy; Metabolic acidosis; Muscular hypotonia; Opisthotonus; Organic aciduria; Phenotypic variability; Propionyl-CoA carboxylase deficiency; Seborrheic dermatitis; Seizures; Skeletal muscle atrophy; Vomiting
PCCA13q32.399.97%gene with protein product232000Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
PCCB3q22.3100%gene with protein product232050Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
PRODH22q11.2199.99%gene with protein product606810Aggressive behavior; Autosomal recessive inheritance; EEG abnormality; Generalized hypotonia; Global developmental delay; Hydroxyprolinuria; Hyperactivity; Hyperglycinuria; Hyperprolinemia; Intellectual disability; Nephropathy; Phenotypic variability; Prolinuria; Proteinuria; Status epilepticus; StereotypyPalmoplantar keratoderma plus congenital ichthyosis
SLC36A25q33.1100%gene with protein product608331Abnormality of the eye; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcium oxalate nephrolithiasis; Hydroxyprolinuria; Hyperglycinuria; Intellectual disability; Prolinuria
SLC36A25q33.1100%gene with protein product608331Abnormality of the eye; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcium oxalate nephrolithiasis; Hydroxyprolinuria; Hyperglycinuria; Intellectual disability; Prolinuria
SLC6A195p15.3399.97%gene with protein product608893Abnormal urinary color; Abnormality of the eye; Anxiety; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcium oxalate nephrolithiasis; Cutaneous photosensitivity; EEG abnormality; Emotional lability; Episodic ataxia; Global developmental delay; Hallucinations; Hydroxyprolinuria; Hyperglycinuria; Hyperreflexia; Hypertonia; Intellectual disability; Malabsorption; Migraine; Muscular hypotonia; Neutral hyperaminoaciduria; Nystagmus; Photophobia; Prolinuria; Psychosis; Seizures; Skin rash; Strabismus
SLC6A195p15.3399.97%gene with protein product608893Abnormal urinary color; Abnormality of the eye; Anxiety; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcium oxalate nephrolithiasis; Cutaneous photosensitivity; EEG abnormality; Emotional lability; Episodic ataxia; Global developmental delay; Hallucinations; Hydroxyprolinuria; Hyperglycinuria; Hyperreflexia; Hypertonia; Intellectual disability; Malabsorption; Migraine; Muscular hypotonia; Neutral hyperaminoaciduria; Nystagmus; Photophobia; Prolinuria; Psychosis; Seizures; Skin rash; Strabismus
SLC6A203p21.31100%gene with protein product605616Abnormality of the eye; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcium oxalate nephrolithiasis; Hydroxyprolinuria; Hyperglycinuria; Intellectual disability; Prolinuria
SLC6A203p21.31100%gene with protein product605616Abnormality of the eye; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcium oxalate nephrolithiasis; Hydroxyprolinuria; Hyperglycinuria; Intellectual disability; Prolinuria


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