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
Hypercoagulability

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
DLD7q31.1100%gene with protein product238331LAD, GCSLAtaxia; Autosomal recessive inheritance; Dystonia; Elevated hepatic transaminases; Elevated plasma branched chain amino acids; Encephalopathy; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hepatic encephalopathy; Hepatomegaly; Hypercoagulability; Hypertrophic cardiomyopathy; Hypoglycemia; Increased serum lactate; Increased urine alpha-ketoglutarate concentration; Lactic acidosis; Lethargy; Metabolic acidosis; Microcephaly; Neurodevelopmental delay; Seizures; Spasticity; Variable expressivity; Vomiting
F51q24.299.91%gene with protein product612309Abdominal pain; Adult onset; Ascites; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Cirrhosis; Deep venous thrombosis; Elevated hepatic transaminases; Epistaxis; Esophageal varix; Fever; Hepatomegaly; Hypercoagulability; Menorrhagia; Portal hypertension; Preeclampsia; Prolonged bleeding time; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prolonged whole-blood clotting time; Reduced factor V activity; Resistance to activated protein C; SplenomegalyHeterotaxy
F9Xq27.199.65%gene with protein product300746Abnormal bleeding; Abnormality of the intrinsic pathway; Deep venous thrombosis; Gastrointestinal hemorrhage; Hypercoagulability; Joint hemorrhage; Osteoarthritis; Persistent bleeding after trauma; Prolonged partial thromboplastin time; Prolonged whole-blood clotting time; Reduced factor IX activity; X-linked inheritance; X-linked recessive inheritance
GATA23q21.3100%gene with protein productThe published variants deep within intron 4 of GATA2 would not be detected by XomeDxSlice137295Abnormal natural killer cell morphology; Abnormal neutrophil count; Abnormality of the optic nerve; Acute leukemia; Autosomal dominant inheritance; Bone marrow hypocellularity; Bruising susceptibility; Cellulitis; Chronic otitis media; Fatigue; Fever; Hepatomegaly; Hypercoagulability; Immunodeficiency; Intracranial hemorrhage; Lymphedema; Migraine; Monocytopenia; Myelodysplasia; Nausea and vomiting; Neurological speech impairment; Neutropenia; Pallor; Pancytopenia; Phenotypic variability; Prolonged bleeding time; Recurrent fungal infections; Recurrent mycobacterium avium complex infections; Recurrent respiratory infections; Recurrent viral infections; Respiratory failure; Sensorineural hearing impairment; Splenomegaly; Thrombocytopenia; Vertigo; Visual loss; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes
HRG3q27.3100%gene with protein product142640Abnormal thrombosis; Autosomal dominant inheritance; Hypercoagulability; Recurrent thromboembolism
MYD883p22.2100%gene with protein product602170Abnormality of neutrophils; Autosomal dominant inheritance; Gingival bleeding; Hypercoagulability; Immunodeficiency; Impaired lymphocyte transformation with phytohemagglutinin; Leukemia; Lymphoma; Monoclonal immunoglobulin M proteinemia; Normocytic anemia; Pallor; Polyclonal elevation of IgM; Polyneuropathy; Recurrent bacterial skin infections; Respiratory insufficiency; Vertigo
PIGAXp22.299.91%gene with protein product311770Abnormality of skin morphology; Abnormality of the pons; Absent septum pellucidum; Absent speech; Anteverted nares; Atrial septal defect; Birth length greater than 97th percentile; Bone marrow hypocellularity; Central hypotonia; Cerebellar hypoplasia; Cerebral cortical atrophy; Coarse facial features; Cortical visual impairment; Death in infancy; Delayed myelination; Depressed nasal bridge; Developmental regression; Downturned corners of mouth; Epileptic encephalopathy; Fatigue; Flexion contracture; Generalized myoclonic seizures; Gingival overgrowth; Hearing impairment; Hemolytic anemia; High palate; Hypercoagulability; Hyperreflexia; Hypertelorism; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile spasms; Large fontanelles; Large for gestational age; Macrocephaly; Malar flattening; Microdontia; Micrognathia; Micropenis; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Neuronal loss in central nervous system; Olfactory lobe agenesis; Overfolded helix; Overgrowth; Paroxysmal nocturnal hemoglobinuria; Postnatal microcephaly; Prominent occiput; Short neck; Small nail; Somatic mutation; Thromboembolism; Triangular mouth; Upslanted palpebral fissure; Variable expressivity; Widely spaced teeth; X-linked recessive inheritance
PLAT8p11.21100%gene with protein product173370Autosomal dominant inheritance; Hypercoagulability; Recurrent deep vein thrombosis
PROC2q14.3100%gene with protein product612283Abnormality of the eye; Abnormality of the nervous system; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral venous thrombosis; Deep venous thrombosis; Global developmental delay; Hypercoagulability; Pulmonary embolism; Purpura; Reduced protein C activity; Seizures; Superficial thrombophlebitis; Thin skin; Variable expressivity; Venous thrombosis; Vitreous hemorrhage; Warfarin-induced skin necrosis
PROC2q14.3100%gene with protein product612283Abnormality of the eye; Abnormality of the nervous system; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral venous thrombosis; Deep venous thrombosis; Global developmental delay; Hypercoagulability; Pulmonary embolism; Purpura; Reduced protein C activity; Seizures; Superficial thrombophlebitis; Thin skin; Variable expressivity; Venous thrombosis; Vitreous hemorrhage; Warfarin-induced skin necrosis
PROS13q11.199.29%gene with protein product176880PROSArterial thrombosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cerebral hemorrhage; Cerebral venous thrombosis; Deep venous thrombosis; Disseminated intravascular coagulation; Hypercoagulability; Pulmonary embolism; Purpura; Reduced protein S activity; Retinopathy; Superficial thrombophlebitis; Thin skin; Thrombophlebitis; Warfarin-induced skin necrosis
PROS13q11.199.29%gene with protein product176880PROSArterial thrombosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cerebral hemorrhage; Cerebral venous thrombosis; Deep venous thrombosis; Disseminated intravascular coagulation; Hypercoagulability; Pulmonary embolism; Purpura; Reduced protein S activity; Retinopathy; Superficial thrombophlebitis; Thin skin; Thrombophlebitis; Warfarin-induced skin necrosis
THBD20p11.21100%gene with protein product188040Deep venous thrombosis; Hypercoagulability


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