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
Chronic tubulointerstitial nephritis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
INVS9q31.199.97%gene with protein product243305NPHP2Abnormality of retinal pigmentation; Absence of renal corticomedullary differentiation; Autosomal recessive inheritance; Chronic tubulointerstitial nephritis; Elevated serum creatinine; Enlarged kidney; Global developmental delay; Hyperechogenic kidneys; Hyperkalemia; Hyperkalemic metabolic acidosis; Hypertension; Nephronophthisis; Oligohydramnios; Premature ovarian insufficiency; Progressive visual loss; Pulmonary hypoplasia; Pulmonary insufficiency; Renal cortical microcysts; Respiratory failure; Retinal dystrophy; Short stature; Stage 5 chronic kidney disease; Visual impairmentHeterotaxy
WDR194p1499.92%gene with protein product608151Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Broad distal phalanx of finger; Broad phalanx of the toes; Cataract; Chronic tubulointerstitial nephritis; Cone-shaped epiphysis; Craniosynostosis; Cutis laxa; Dolichocephaly; Ectodermal dysplasia; Elevated serum creatinine; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Frontal bossing; Full cheeks; Global developmental delay; Hepatic cysts; Hip dysplasia; Hypermetropia; Hypertension; Hypodontia; Hypotelorism; Inguinal hernia; Joint hyperflexibility; Joint hypermobility; Metaphyseal widening; Microdontia; Micromelia; Myopia; Narrow chest; Nephronophthisis; Nephropathy; Osteoporosis; Pancreatic cysts; Pectus excavatum; Pes valgus; Premature ovarian insufficiency; Progressive visual loss; Prominent occiput; Proteinuria; Reduced visual acuity; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Rhizomelia; Rod-cone dystrophy; Short distal phalanx of finger; Short foot; Short iliac bones; Short stature; Short thorax; Skeletal dysplasia; Sparse hair; Stage 5 chronic kidney disease; Thin upper lip vermilion; Thoracic dysplasia; Visual impairmentEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia


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