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
Pulmonary insufficiency

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADA20q13.12100%gene with protein product608958Abnormal lymphocyte morphology; Abnormality of pelvic girdle bone morphology; Absence of lymph node germinal center; Absent specific antibody response; Absent tonsils; Allergy; Alopecia; Anterior rib cupping; Anti-thyroid peroxidase antibody positivity; Aplasia of the thymus; Aplasia/Hypoplasia of the eyebrow; Asthma; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; B lymphocytopenia; B-cell lymphoma; Chronic diarrhea; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Diffuse mesangial sclerosis; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Fever; Hepatomegaly; IgA deficiency; IgM deficiency; Immunoglobulin IgG2 deficiency; Increased IgE level; Inflammatory abnormality of the skin; Lack of T cell function; Lymphadenopathy; Platyspondyly; Pneumonia; Pruritus; Pulmonary insufficiency; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent otitis media; Recurrent pneumonia; Recurrent upper respiratory tract infections; Recurrent viral infections; Reduced red cell adenosine deaminase activity; Severe B lymphocytopenia; Severe combined immunodeficiency; Sinusitis; Somatic mosaicism; Splenomegaly; Thickened skinAutoimmune Disorders ; Common Variable Immune Deficiency ; Hemolytic Anemia ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
COL1A117q21.33100%gene with protein product120150Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Behavioral abnormality; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowel diverticulosis; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calvarial hyperostosis; Cellulitis; Cigarette-paper scars; Congenital bilateral hip dislocation; Congenital diaphragmatic hernia; Congestive heart failure; Convex nasal ridge; Cortical irregularity; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Ectopia lentis; Epicanthus; Erythema; Femoral bowing; Femoral bowing present at birth, straightening with time; Femoral hernia; Fever; Fibrosarcoma; Fragile skin; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Growth abnormality; Hallux valgus; Hearing impairment; Hyperesthesia; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Increased susceptibility to fractures; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Kyphosis; Large fontanelles; Lop ear; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral valve prolapse; Molluscoid pseudotumors; Multiple prenatal fractures; Muscle weakness; Myopia; Narrow maxilla; Neonatal short-limb short stature; Neoplasm of the skin; Nonimmune hydrops fetalis; Osteoarthritis; Osteopenia; Otosclerosis; Pectus carinatum; Pectus excavatum; Periosteal thickening of long tubular bones; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Skin ulcer; Slender long bone; Small for gestational age; Soft skin; Subcutaneous nodule; Subcutaneous spheroids; Thickened skin; Thin skin; Tibial bowing; Triangular face; Umbilical hernia; Varicose veins; Wide anterior fontanel; Wormian bones
COL1A27q21.399.62%gene with protein product120160OI4Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic regurgitation; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calcaneovalgus deformity; Congenital bilateral hip dislocation; Congestive heart failure; Convex nasal ridge; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Excessive wrinkled skin; Femoral bowing present at birth, straightening with time; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Hearing impairment; Hernia; Hyperextensible skin; Increased susceptibility to fractures; Inguinal hernia; Joint hyperflexibility; Joint laxity; Kyphosis; Large fontanelles; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral regurgitation; Mitral valve prolapse; Multiple prenatal fractures; Muscle weakness; Neonatal short-limb short stature; Nonimmune hydrops fetalis; Osteopenia; Otosclerosis; Pectus excavatum; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Slender long bone; Small for gestational age; Soft skin; Subcutaneous hemorrhage; Thin skin; Tibial bowing; Triangular face; Wide anterior fontanel; Wormian bones
EFEMP211q13.1100%gene with protein product604633Abnormality of the pinna; Aortic aneurysm; Arachnodactyly; Arterial fibromuscular dysplasia; Arterial stenosis; Arterial tortuosity; Atelectasis; Autosomal recessive inheritance; Bladder diverticulum; Bulbous nose; Congenital diaphragmatic hernia; Cutis laxa; Delayed cranial suture closure; Downslanted palpebral fissures; Emphysema; Full cheeks; Generalized arterial tortuosity; Generalized hypotonia; High palate; Hypertelorism; Ileus; Inguinal hernia; Joint hyperflexibility; Joint hypermobility; Low-set ears; Microcephaly; Micrognathia; Narrow palpebral fissure; Pectus excavatum; Premature skin wrinkling; Prominence of the premaxilla; Prominent forehead; Proptosis; Ptosis; Pulmonary artery aneurysm; Pulmonary artery dilatation; Pulmonary insufficiency; Recurrent urinary tract infections; Redundant skin; Renal diverticulum; Soft skin
FOXF116q24.1100%gene with protein product601089FKHL5Abnormal lung lobation; Abnormality of the pulmonary veins; Annular pancreas; Autosomal dominant inheritance; Autosomal recessive inheritance; Duodenal atresia; Hydronephrosis; Hydroureter; Hypertension; Hypoplastic left heart; Intestinal malrotation; Meckel diverticulum; Neonatal death; Patent ductus arteriosus; Polyhydramnios; Pulmonary arterial hypertension; Pulmonary insufficiency; Respiratory distress; Right-to-left shuntHeterotaxy ; VACTERL Association
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


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