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
Erythroid hypoplasia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
G6PC317q21.31100%gene with protein product611045Anemia; Atrial septal defect; Autosomal recessive inheritance; Broad thumb; Cleft palate; Clinodactyly; Cryptorchidism; Erythroid hypoplasia; Failure to thrive; Growth delay; Hearing impairment; Hepatomegaly; High palate; Hypoplasia of the thymus; Lymphopenia; Microcephaly; Mitral regurgitation; Monocytosis; Neutropenia; Patent ductus arteriosus; Pectus carinatum; Phenotypic variability; Pulmonary arterial hypertension; Pulmonic stenosis; Recurrent bacterial infections; Recurrent respiratory infections; Respiratory insufficiency; Sepsis; Single transverse palmar crease; Splenomegaly; Thrombocytopenia; Varicose veins; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
RPL35A3q29100%gene with protein product180468Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Erythroid hypoplasia; Fatigue; Global developmental delay; Hypertelorism; Hypospadias; Infantile onset; Leukopenia; Low-set ears; Macrocytic anemia; Migraine; Pallor; Reticulocytopenia; Short stature; Ventricular septal defectAplastic Anemia ; Bone Marrow Failure Syndromes
RPS145q33.1100%gene with protein product130620Abnormal megakaryocyte morphology; Autosomal dominant contiguous gene syndrome; Erythroid hypoplasia; Myelodysplasia; Refractory macrocytic anemia; Somatic mutation; Sporadic
RPS1715q25.293.47%gene with protein product180472RPS17LAbnormal facial shape; Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Erythroid hypoplasia; Fatigue; Macrocytic anemia; Migraine; Neutropenia; Pallor; Reticulocytopenia; Short statureAplastic 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