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
Exercise-induced myalgia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACADVL17p13.1100%gene with protein product609575Autosomal recessive inheritance; Decreased plasma carnitine; Dicarboxylic aciduria; Elevated serum creatine phosphokinase; Exercise-induced myalgia; Exercise-induced myoglobinuria; Exercise-induced rhabdomyolysis; Generalized hypotonia; Hepatic steatosis; Hepatocellular necrosis; Hepatomegaly; Hypertrophic cardiomyopathy; Lethargy; Muscle stiffness; Muscle weakness; Nonketotic hypoglycemia; Sudden cardiac death; Tachypnea; VomitingRhabdomyolysis
AMPD11p13.2100%gene with protein product102770Autosomal recessive inheritance; Exercise-induced muscle fatigue; Exercise-induced myalgia; Increased muscle fatiguability; Limb muscle weakness; Muscle cramps; Muscle weakness; Phenotypic variability
AMPD311p15.4100%gene with protein product102772Exercise-induced muscle fatigue; Exercise-induced myalgia; Limb muscle weakness; Muscle cramps
CAV33p25.3100%gene with protein product601253Abnormality of metabolism/homeostasis; Adult onset; Arrhythmia; Asymmetric septal hypertrophy; Autosomal dominant inheritance; Autosomal recessive inheritance; Calf muscle hypertrophy; Childhood onset; Congestive heart failure; Elevated serum creatine phosphokinase; EMG abnormality; Exercise-induced muscle cramps; Exercise-induced muscle stiffness; Exercise-induced myalgia; Gowers sign; Heterogeneous; Muscle cramps; Muscle hyperirritability; Muscle mounding; Muscular dystrophy; Myalgia; Percussion-induced rapid rolling muscle contractions; Pes cavus; Prolonged QT interval; Skeletal muscle hypertrophy; Subvalvular aortic stenosis; Sudden death; Ventricular arrhythmia
CAVIN117q21.31100%gene with protein productformer name = PTRF603198PTRFAbnormal levels of creatine kinase in blood; Acanthosis nigricans; Atherosclerosis; Atrial fibrillation; Autosomal recessive inheritance; Bradycardia; Constipation; Delayed skeletal maturation; Diabetes mellitus; Dysphagia; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced myalgia; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized muscle hypertrophy; Generalized muscle weakness; Hepatic steatosis; Hepatomegaly; Hyperinsulinemia; Hyperlordosis; Hypertriglyceridemia; IgA deficiency; Ileus; Infantile onset; Insulin resistance; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Muscle mounding; Muscle stiffness; Muscular dystrophy; Myalgia; Myopathy; Osteopenia; Osteoporosis; Palpitations; Progressive proximal muscle weakness; Prolonged QT interval; Prolonged QTc interval; Prominent umbilicus; Proximal muscle weakness; Pyloric stenosis; Recurrent infections; Scoliosis; Secondary amenorrhea; Skeletal muscle hypertrophy; Spinal rigidity; Splenomegaly; Tachycardia; Thin skin
PGAM27p13100%gene with protein product612931Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced muscle cramps; Exercise-induced myalgia; Myoglobinuria; Myopathy; Renal insufficiency; RhabdomyolysisRhabdomyolysis
PHKA1Xq13.199.86%gene with protein product311870PHKAElevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced muscle stiffness; Exercise-induced myalgia; Exercise-induced myoglobinuria; Muscle weakness; Skeletal muscle atrophy; X-linked recessive inheritanceRhabdomyolysis
PYGM11q13.199.97%gene with protein product608455Adult onset; Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise-induced muscle cramps; Exercise-induced myalgia; Muscle weakness; Myoglobinuria; Myopathy; RhabdomyolysisRhabdomyolysis
RYR119q13.299.99%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 180901MHS, MHS1, CCOAbnormality of the coagulation cascade; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Centrally nucleated skeletal muscle fibers; Congenital hip dislocation; Congenital onset; Decreased fetal movement; Difficulty running; Dilated cardiomyopathy; Dysphagia; Elevated serum creatine phosphokinase; Exercise-induced myalgia; External ophthalmoplegia; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fever; Flexion contracture; Generalized muscle weakness; Heterogeneous; High palate; Hydrops fetalis; Hyperkalemia; Hyperphosphatemia; Hypotension; Increased connective tissue; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Kyphoscoliosis; Long face; Lumbar hyperlordosis; Malignant hyperthermia; Mixed respiratory and metabolic acidosis; Motor delay; Muscular dystrophy; Muscular hypotonia; Myoglobinuria; Myopathic facies; Myopathy; Narrow face; Nemaline bodies; Neonatal hypotonia; Neonatal onset; Nonprogressive; Pes planus; Phenotypic variability; Polyhydramnios; Proximal muscle weakness; Ptosis; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rhabdomyolysis; Rigidity; Scoliosis; Skeletal muscle atrophy; Slow progression; Tachycardia; Type 1 and type 2 muscle fiber minicore regions; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Weak cryRhabdomyolysis
STIM111p15.4100%gene with protein product605921Abnormal thrombocyte morphology; Abnormality of coagulation; Abnormality of the musculature; Adult onset; Anemia; Areflexia of lower limbs; Asplenia; Autoimmune hemolytic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Centrally nucleated skeletal muscle fibers; Deeply set eye; Difficulty running; Easy fatigability; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Episodic fever; Exercise-induced myalgia; Fatiguable weakness of proximal limb muscles; Frequent falls; High forehead; Hypohidrosis; Hypoplasia of the iris; Hyporeflexia of lower limbs; Ichthyosis; Immunodeficiency; Increased variability in muscle fiber diameter; Lymphadenopathy; Miosis; Muscle cramps; Muscle fiber tubular inclusions; Muscle stiffness; Muscular hypotonia; Myalgia; Myopathy; Nail dysplasia; Neurological speech impairment; Proximal amyotrophy; Proximal muscle weakness; Purpura; Recurrent bacterial infections; Short stature; Slow progression; Thrombocytopenia; Type 2 muscle fiber atrophy; Variable expressivity; Weakness of the intrinsic hand musclesAutoimmune Disorders ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis
TRIM329q33.1100%gene with protein product602290LGMD2HAbnormal electroretinogram; Abnormality of the kidney; Areflexia; Autosomal recessive inheritance; Calf muscle pseudohypertrophy; Centrally nucleated skeletal muscle fibers; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Exercise-induced myalgia; Facial palsy; Gowers sign; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hyporeflexia; Increased variability in muscle fiber diameter; Intellectual disability; Mask-like facies; Multicystic kidney dysplasia; Muscular dystrophy; Myopathy; Neck flexor weakness; Nystagmus; Obesity; Pelvic girdle muscle atrophy; Pelvic girdle muscle weakness; Phenotypic variability; Pigmentary retinopathy; Polydactyly; Postaxial hand polydactyly; Proximal muscle weakness in lower limbs; Quadriceps muscle weakness; Retinopathy; Short stature; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Slow progression; Tall stature; Waddling gaitBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity; Rhabdomyolysis


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