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
Distichiasis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CDH116q22.1100%gene with protein product192090UVOAbnormality of metabolism/homeostasis; Abnormality of vision; Autosomal dominant inheritance; Bilateral cleft lip and palate; Breast carcinoma; Carious teeth; Chronic atrophic gastritis; Cleft upper lip; Clinodactyly; Conductive hearing impairment; Conical tooth; Distichiasis; Dysgerminoma; Ectropion of lower eyelids; Endometrial carcinoma; Euryblepharon; Finger syndactyly; Hypertelorism; Hypodontia; Ovarian papillary adenocarcinoma; Small nail; Stomach cancerEctodermal Dysplasia
CDH116q22.1100%gene with protein product192090UVOAbnormality of metabolism/homeostasis; Abnormality of vision; Autosomal dominant inheritance; Bilateral cleft lip and palate; Breast carcinoma; Carious teeth; Chronic atrophic gastritis; Cleft upper lip; Clinodactyly; Conductive hearing impairment; Conical tooth; Distichiasis; Dysgerminoma; Ectropion of lower eyelids; Endometrial carcinoma; Euryblepharon; Finger syndactyly; Hypertelorism; Hypodontia; Ovarian papillary adenocarcinoma; Small nail; Stomach cancerEctodermal Dysplasia
CTNND111q12.1100%gene with protein product601045CTNNDAbnormality of vision; Bilateral cleft lip and palate; Carious teeth; Conductive hearing impairment; Conical tooth; Distichiasis; Ectropion of lower eyelids; Euryblepharon; Finger syndactyly; HypertelorismEctodermal Dysplasia
FOXC216q24.1100%gene with protein product602402FKHL14Abnormality of the musculature; Arrhythmia; Autosomal dominant inheritance; Cataract; Conjunctivitis; Corneal erosion; Corneal ulceration; Distichiasis; Ectropion; Lymphedema; Muscle weakness; Patent ductus arteriosus; Photophobia; Predominantly lower limb lymphedema; Ptosis; Recurrent corneal erosions; Tetralogy of Fallot; Varicose veins; Ventricular septal defect
FOXC216q24.1100%gene with protein product602402FKHL14Abnormality of the musculature; Arrhythmia; Autosomal dominant inheritance; Cataract; Conjunctivitis; Corneal erosion; Corneal ulceration; Distichiasis; Ectropion; Lymphedema; Muscle weakness; Patent ductus arteriosus; Photophobia; Predominantly lower limb lymphedema; Ptosis; Recurrent corneal erosions; Tetralogy of Fallot; Varicose veins; Ventricular septal defect
PUS112q24.3399.99%gene with protein product608109Anemia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Delayed puberty; Distichiasis; EMG abnormality; Erythroid hyperplasia; Exercise intolerance; Failure to thrive; Generalized limb muscle atrophy; Glaucoma; High palate; Hypochromic anemia; Increased serum ferritin; Increased serum lactate; Intellectual disability; Kyphosis; Lactic acidosis; Long philtrum; Microcephaly; Microcytic anemia; Micrognathia; Mitochondrial myopathy; Muscular hypotonia; Myopathy; Pallor; Progressive muscle weakness; Scoliosis; Short nose; Sideroblastic anemiaAplastic Anemia ; Bone Marrow Failure Syndromes
TWIST22q37.3100%gene with protein product607556Ablepharon; Abnormal hair pattern; Abnormal nasal morphology; Abnormality of female external genitalia; Abnormality of male external genitalia; Abnormality of the pinna; Abnormality of the sacroiliac joint; Abnormality of the upper urinary tract; Absent eyebrow; Absent eyelashes; Aged leonine appearance; Ambiguous genitalia; Anal atresia; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the nipples; Aplasia/Hypoplasia of the skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast aplasia; Breast hypoplasia; Bulbous nose; Camptodactyly of finger; Corneal opacity; Cryptophthalmos; Delayed eruption of teeth; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Dermal atrophy; Dimple chin; Distichiasis; Downturned corners of mouth; Dry skin; Ectodermal dysplasia; Ectropion; Epicanthus; Excessive wrinkled skin; Failure to thrive; Fine hair; Generalized hirsutism; Global developmental delay; Hearing impairment; Highly arched eyebrow; Hyperextensible skin; Hypertelorism; Hypertrichosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Hypoplastic nipples; Low-set ears; Mandibular prognathia; Microdontia; Microtia; Microtia, third degree; Multiple rows of eyelashes; Myopia; Periorbital fullness; Prematurely aged appearance; Redundant skin; Short philtrum; Sparse and thin eyebrow; Sparse hair; Sparse lateral eyebrow; Sparse lower eyelashes; Sparse or absent eyelashes; Telecanthus; Thin skin; Thin vermilion border; Umbilical hernia; Underdeveloped nasal alae; Ventral hernia; Visual impairment; Wide mouth; Wide nasal bridgeEctodermal Dysplasia
YARS212p11.21100%gene with protein product610957Anemia; Autosomal recessive inheritance; Delayed puberty; Distichiasis; Dysphagia; EMG abnormality; Exercise intolerance; Failure to thrive; Generalized amyotrophy; Generalized limb muscle atrophy; Glaucoma; Growth delay; High palate; Increased serum lactate; Intellectual disability; Kyphosis; Lactic acidosis; Long philtrum; Microcephaly; Micrognathia; Mitochondrial myopathy; Muscular hypotonia; Myopathy; Nystagmus; Phenotypic variability; Progressive; Progressive muscle weakness; Ptosis; Respiratory insufficiency due to muscle weakness; Scoliosis; Short nose; Sideroblastic anemia; StrabismusAplastic Anemia ; Bone Marrow Failure Syndromes


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