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
Abnormality of amino acid metabolism

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AGA4q34.399.92%gene with protein product613228Abnormal cortical bone morphology; Abnormality of amino acid metabolism; Abnormality of metabolism/homeostasis; Abnormality of the ulna; Acne; Angiokeratoma corporis diffusum; Anterior beaking of lumbar vertebrae; Anteverted nares; Aspartylglucosaminuria; Autosomal recessive inheritance; Beaking of vertebral bodies; Brachycephaly; Broad face; Carious teeth; Cataract; Cerebral atrophy; Coarse facial features; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Diarrhea; Dyskinesia; Dysostosis multiplex; Generalized hypotonia; Gingival overgrowth; Hepatomegaly; Hernia; Hoarse voice; Hypertelorism; Hypoplastic frontal sinuses; Intellectual disability; Joint laxity; Kyphosis; Large face; Macroglossia; Macroorchidism; Mandibular prognathia; Microcephaly; Microtia; Mitral regurgitation; Neurological speech impairment; Neutropenia; Pathologic fracture; Pectus carinatum; Platyspondyly; Recurrent respiratory infections; Scoliosis; Seizures; Short nose; Short stature; Spasticity; Spondylolisthesis; Spondylolysis; Thick lower lip vermilion; Thick vermilion border; Thickened calvaria; Umbilical hernia; Vacuolated lymphocytes; Wide mouth; Wide nasal bridgePalmoplantar keratoderma plus congenital ichthyosis
CBS21q22.399.94%gene with protein product613381Abnormality of amino acid metabolism; Amblyopia; Arachnodactyly; Arterial thrombosis; Arteriovenous malformation; Autosomal recessive inheritance; Biconcave vertebral bodies; Brittle hair; Cerebral ischemia; Cutis marmorata; Dental crowding; Depressivity; Disproportionate tall stature; Ectopia lentis; Generalized osteoporosis; Genu valgum; Glaucoma; Hepatic steatosis; High palate; Homocystinuria; Hypertension; Hypopigmentation of the skin; Inguinal hernia; Intellectual disability; Joint stiffness; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Mitral valve prolapse; Myocardial infarction; Myopia; Osteoporosis; Pancreatitis; Pectus carinatum; Pectus excavatum; Personality disorder; Pulmonary embolism; Recurrent fractures; Scoliosis; Seizures; Sparse scalp hair; Stroke; Tall stature; Thromboembolism; Venous thrombosis
ERCC219q13.32100%gene with protein product126340XPDAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Abnormality of the thorax; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Asthma; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Brittle hair; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Chronic diarrhea; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed speech and language development; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Ectropion; EEG abnormality; Entropion; Erythema; Erythroderma; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Fine hair; Flexion contracture; Fragile nails; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; IgG deficiency; Intellectual disability; Intellectual disability, progressive; Intestinal obstruction; Intrauterine growth retardation; Joint stiffness; Keratitis; Kyphoscoliosis; Lack of subcutaneous fatty tissue; Large beaked nose; Malabsorption; Melanoma; Mental deterioration; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Nail dystrophy; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Recurrent infections; Reduced tendon reflexes; Retinopathy; Retrognathia; Rocker bottom foot; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Small for gestational age; Small nail; Sparse hair; Spasticity; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin; Trichorrhexis nodosa; Urticaria; Visual impairment; Wide nasal bridgeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC32q14.3100%gene with protein product133510Abnormal CNS myelination; Abnormality of amino acid metabolism; Abnormality of the dentition; Arteriosclerosis; Arthralgia; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Basal ganglia calcification; Brittle hair; Cachexia; Cataract; Cerebellar atrophy; Coarse hair; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous melanoma; Cutaneous photosensitivity; Decreased fertility; Decreased nerve conduction velocity; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hyperreflexia; Hypogonadism; Hypopigmented skin patches; Increased cellular sensitivity to UV light; Intellectual disability; Intellectual disability, progressive; Keratitis; Melanoma; Microcephaly; Microphthalmia; Neoplasm; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Pigmentary retinopathy; Poikiloderma; Prematurely aged appearance; Progeroid facial appearance; Retinopathy; Sensorineural hearing impairment; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Tiger tail banding; Urticaria; VentriculomegalyEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC416p13.12100%gene with protein product133520XPF, FANCQAbnormality of amino acid metabolism; Abnormality of chromosome stability; Abnormality of the dentition; Absent thumb; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Arteriosclerosis; Arthralgia; Ascites; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Biliary atresia; Bone marrow hypocellularity; Cachexia; Cataract; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Elevated hepatic transaminases; Erythema; Esophageal atresia; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; High pitched voice; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertension; Hypogonadism; Hypopigmented skin patches; Hypoplasia of dental enamel; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, progressive; Irregular hyperpigmentation; Keratitis; Lack of subcutaneous fatty tissue; Leukopenia; Low-set ears; Melanoma; Microcephaly; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Papule; Phenotypic variability; Poikiloderma; Poor coordination; Prematurely aged appearance; Pyridoxine-responsive sideroblastic anemia; Retinopathy; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short palpebral fissure; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Urticaria; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
ERCC513q33.1100%gene with protein product133530ERCM2, XPGCAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in infancy; Decreased fetal movement; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Edema; EEG abnormality; Erythema; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Intellectual disability; Intellectual disability, progressive; Intrauterine growth retardation; Joint stiffness; Keratitis; Low-set ears; Melanoma; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Reduced tendon reflexes; Retinopathy; Rocker bottom foot; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Talipes equinovarus; Telangiectasia of the skin; Thin skin; Urticaria; Variable expressivity; Visual impairment; Wide nasal bridge
TAT16q22.2100%gene with protein product6130184-Hydroxyphenylpyruvic aciduria; Abnormality of amino acid metabolism; Abnormality of the skin; Autosomal recessive inheritance; Corneal opacity; Growth delay; Herpetiform corneal ulceration; Hyperhidrosis; Hypertyrosinemia; Intellectual disability; Nystagmus; Palmoplantar keratoderma; PhotophobiaAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency


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