GTR Home
Fulgent Genetics
Full Comprehensive Cancer Panel
Full Comprehensive Cancer Panel
At a Glance
Diagnosis;
Mutation Confirmation
Somatotroph adenoma;
11 pairs of ribs;
11p partial monosomy syndrome
more...
⨉
Somatotroph adenoma
11 pairs of ribs
11p partial monosomy syndrome
2-3 toe syndactyly
Abdominal obesity
Abdominal pain
Abnormal abdomen morphology
Abnormal aortic morphology
Abnormal aortic valve morphology
Abnormal bleeding
Abnormal blistering of the skin
Abnormal bone marrow cell morphology
Abnormal calvaria morphology
Abnormal circulating immunoglobulin concentration
Abnormal clavicle morphology
Abnormal cranial suture/fontanelle morphology
Abnormal dental enamel morphology
Abnormal dental morphology
Abnormal dermatoglyphics
Abnormal epiphysis morphology
Abnormal eyebrow morphology
Abnormal eyelash morphology
Abnormal facial shape
Abnormal female external genitalia morphology
Abnormal femur morphology
Abnormal finger morphology
Abnormal fingernail morphology
Abnormal foot morphology
Abnormal form of the vertebral bodies
Abnormal gastric mucosa morphology
Abnormal hair quantity
Abnormal hair whorl
Abnormal helix morphology
Abnormal hip bone morphology
Abnormal intervertebral disk morphology
Abnormal leukocyte morphology
Abnormal localization of kidney
Abnormal lung lobation
Abnormal macular morphology
Abnormal metacarpal morphology
Abnormal metaphysis morphology
Abnormal mitral valve morphology
Abnormal morphology of female internal genitalia
Abnormal morphology of ulna
Abnormal nail morphology
Abnormal nasal morphology
Abnormal nipple morphology
Abnormal oral cavity morphology
Abnormal palate morphology
Abnormal pattern of respiration
Abnormal pelvic girdle bone morphology
Abnormal pericardium morphology
Abnormal peritoneum morphology
Abnormal pinna morphology
Abnormal pleura morphology
Abnormal pulmonary valve morphology
Abnormal pyramidal sign
Abnormal retinal vascular morphology
Abnormal rib morphology
Abnormal sacrum morphology
Abnormal speech pattern
Abnormal sternum morphology
Abnormal testis morphology
Abnormal thorax morphology
Abnormal tibia morphology
Abnormal toe morphology
Abnormality of bone mineral density
Abnormality of coagulation
Abnormality of dental color
Abnormality of extrapyramidal motor function
Abnormality of immune system physiology
Abnormality of metabolism/homeostasis
Abnormality of mitochondrial metabolism
Abnormality of neutrophils
Abnormality of retinal pigmentation
Abnormality of skin pigmentation
Abnormality of temperature regulation
Abnormality of the bronchi
Abnormality of the dentition
Abnormality of the eye
Abnormality of the genital system
Abnormality of the hypothalamus-pituitary axis
Abnormality of the kidney
Abnormality of the liver
Abnormality of the lymphatic system
Abnormality of the menstrual cycle
Abnormality of the musculature
Abnormality of the nose
Abnormality of the outer ear
Abnormality of the pharynx
Abnormality of the pulmonary artery
Abnormality of the respiratory system
Abnormality of the sense of smell
Abnormality of the skin
Abnormality of the spleen
Abnormality of the thyroid gland
Abnormality of the tongue
Abnormality of the upper urinary tract
Abnormality of the ureter
Abnormality of the urinary system
Abnormality of the voice
Abnormality of thrombocytes
Abnormality of visual evoked potentials
Abnormally high-pitched voice
Abnormally large globe
Absence of subcutaneous fat
Absent radius
Absent thumb
Achilles tendon contracture
Acne
Acrodysostosis
Acute leukemia
Acute lymphoid leukemia
Acute monocytic leukemia
Acute myeloid leukemia
Adenoma sebaceum
Adenomatous colonic polyposis
Adrenal cortex carcinoma
Adrenocortical carcinoma, hereditary
Agenesis of permanent teeth
Aggressive behavior
Agitation
Alopecia
Amaurosis fugax
Ambiguous genitalia
Amblyopia
Amelogenesis imperfecta type 1G
Aminoaciduria
Anemia
Angioid streaks
Aniridia 1
Annular pancreas
Anonychia
Anterior creases of earlobe
Anterior hypopituitarism
Anteverted nares
Anxiety
Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia involving the nose
Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the thumb
Aplasia/Hypoplasia of the thymus
Aplastic anemia
Aplastic/hypoplastic toenail
Apnea
Arachnodactyly
Areflexia
Arterial thrombosis
Arteriovenous malformation
Arthralgia
Arthritis
Arthrogryposis multiplex congenita
Ascites
Asthma
Astigmatism
Asymmetric growth
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia-like disorder 1
Atelectasis
Ateleiotic dwarfism
Atrial septal defect
Attention deficit hyperactivity disorder
Attenuated familial adenomatous polyposis
Atypical behavior
Autism spectrum disorder
Autoimmune hemolytic anemia
Autosomal dominant hypocalcemia 1
Autosomal dominant inheritance
Avascular necrosis
B-cell non-Hodgkin lymphoma
BAP1-related tumor predisposition syndrome
Babinski sign
Baller-Gerold syndrome
Bannayan-Riley-Ruvalcaba syndrome
Barrel-shaped chest
Basal cell carcinoma
Basal cell carcinoma, susceptibility to, 1
Basal ganglia calcification
Beckwith-Wiedemann syndrome
Benign neoplasm of the central nervous system
Bicornuate uterus
Bifid scrotum
Bifid uvula
Bilateral sensorineural hearing impairment
Bilateral tonic-clonic seizure
Biliary tract abnormality
Biliary tract neoplasm
Birt-Hogg-Dube syndrome
Blepharophimosis
Bloom syndrome
Bone cyst
Bone marrow hypocellularity
Bone osteosarcoma
Bone pain
Bowing of the long bones
Brachycephaly
Brachydactyly
Brain atrophy
Breast adenocarcinoma
Breast and/or ovarian cancer
Breast cancer, early-onset
Breast carcinoma
Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 4
Brittle hair
Broad face
Broad forehead
Broad nasal tip
Broad thumb
Bronchiectasis with or without elevated sweat chloride 1
Brooke-Spiegler syndrome
Bruising susceptibility
Bulbous nose
CNS demyelination
CNS hypomyelination
Cafe-au-lait spot
Café-au-lait macules with pulmonary stenosis
Calcaneovalgus deformity
Calcinosis
Camptodactyly
Camptodactyly of finger
Carcinoid tumor of intestine
Carcinoma of colon
Carcinoma of male breast
Carcinoma of pancreas
Cardiac arrhythmia
Cardiomyopathy
Carious teeth
Carney complex, type 1
Carney-Stratakis syndrome
Cataract
Cavernous hemangioma
Cellular immunodeficiency
Cerebellar atrophy
Cerebellar vermis hypoplasia
Cerebral arteriovenous malformation
Cerebral atrophy
Cerebral calcification
Cerebral cortical atrophy
Cerebral ischemia
Cerebrooculofacioskeletal syndrome 1
Cerebrooculofacioskeletal syndrome 2
Cerebrooculofacioskeletal syndrome 4
Cerebroretinal microangiopathy with calcifications and cysts 1
Cervical cancer
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2A1
Chest pain
Choanal atresia
Chondrocalcinosis
Chondrosarcoma
Chorea
Choreoathetosis
Choroid plexus carcinoma
Choroid plexus papilloma
Chronic lung disease
Chuvash polycythemia
Cirrhosis of liver
Classic Hodgkin lymphoma
Cleft palate
Cleft upper lip
Clinodactyly
Clinodactyly of the 5th finger
Clubbing
Clubbing of fingers
Clubfoot
Coarctation of aorta
Coarse facial features
Coarse hair
Coarse metaphyseal trabecularization
Coffin-Siris syndrome 1
Cognitive impairment
Coloboma of optic nerve
Colon cancer
Colonic neoplasm
Colorectal cancer
Colorectal cancer, hereditary nonpolyposis, type 7
Colorectal cancer, susceptibility to, 1
Colorectal cancer, susceptibility to, 10
Colorectal cancer, susceptibility to, 2
Combined immunodeficiency
Communicating hydrocephalus
Conductive hearing impairment
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphysis
Congenital amegakaryocytic thrombocytopenia
Congenital central hypoventilation
Congenital cerebellar hypoplasia
Congenital diaphragmatic hernia
Congenital diarrhea 5 with tufting enteropathy
Congenital heart disease
Congenital hip dislocation
Congenital laryngomalacia
Congenital nonbullous ichthyosiform erythroderma
Congenital ocular coloboma
Congenital omphalocele
Congenital vertical talus
Congestive heart failure
Conjunctival telangiectasia
Conjunctivitis
Constipation
Convex nasal ridge
Corneal opacity
Coronal craniosynostosis
Coronary artery disorder
Corpus callosum, agenesis of
Cortical dysplasia
Costello syndrome
Cowden syndrome
Cowden syndrome 3
Coxa vara
Cranial asymmetry
Cranial nerve paralysis
Craniosynostosis 4
Cryptorchidism
Cubitus valgus
Curly hair
Cutaneous mastocytosis
Cutis laxa
Cutis marmorata
Cystic hygroma
Dandy-Walker syndrome
Deafness-lymphedema-leukemia syndrome
Death in childhood
Decreased body weight
Decreased circulating IgG concentration
Decreased circulating antibody concentration
Decreased circulating total IgM
Decreased corneal thickness
Decreased fertility
Decreased fetal movement
Decreased motor nerve conduction velocity
Decreased number of peripheral myelinated nerve fibers
Decreased response to growth hormone stimulation test
Decreased skull ossification
Deep philtrum
Deeply set eye
Delayed eruption of teeth
Delayed gross motor development
Delayed puberty
Delayed skeletal maturation
Delayed speech and language development
Dementia
Dental crowding
Dental enamel pits
Dental malocclusion
Depressed nasal bridge
Depressed nasal ridge
Depression
Developmental cataract
Developmental regression
Diabetes mellitus
Diabetes mellitus type 1
Diarrhea
Dilated cardiomyopathy 1GG
Dislocated radial head
Displacement of the urethral meatus
Disproportionate short-limb short stature
Distal amyotrophy
Distal muscle weakness
Distal sensory impairment
Dolichocephaly
Downslanted palpebral fissures
Drash syndrome
Dry skin
Dysarthria
Dysdiadochokinesis
Dyskeratosis congenita
Dyskeratosis congenita, X-linked
Dyskeratosis congenita, autosomal dominant 1
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 3
Dyskeratosis congenita, autosomal recessive 1
Dyskeratosis congenita, autosomal recessive 2
Dyskeratosis congenita, autosomal recessive 3
Dysphagia
Dyspnea
Dyssynergia
Dystonic disorder
EEG abnormality
EMG abnormality
Ectopic anus
Ectopic kidney
Ectrodactyly
Eczematoid dermatitis
Elbow dislocation
Elbow flexion contracture
Elevated circulating creatinine concentration
Elevated circulating hepatic transaminase concentration
Elevated circulating thyroid-stimulating hormone concentration
Embryonal rhabdomyosarcoma
Emotional lability
Emphysema
Enamel hypoplasia
Endometrial carcinoma
Enlarged thorax
Eosinophilia
Epicanthus
Epidermal nevus
Epilepsy, idiopathic generalized, susceptibility to, 8
Epistaxis
Erectile dysfunction
Erythrocytosis, familial, 3
Erythroderma
Esophageal varix
Euthyroid goiter
Everted lower lip vermilion
Ewing sarcoma
Exercise intolerance
Exostoses, multiple, type 2
External genital hypoplasia
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Facial palsy
Factor XII deficiency disease
Failure to thrive
Familial adenomatous polyposis 1
Familial adenomatous polyposis 2
Familial atrial myxoma
Familial cancer of breast
Familial colorectal cancer
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Familial cylindromatosis
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Familial hypocalciuric hypercalcemia
Familial hypoparathyroidism
Familial medullary thyroid carcinoma
Familial melanoma
Familial meningioma
Familial multiple polyposis syndrome
Familial multiple trichoepitheliomata
Familial spontaneous pneumothorax
Fanconi anemia
Fanconi anemia complementation group A
Fanconi anemia complementation group B
Fanconi anemia complementation group C
Fanconi anemia complementation group D1
Fanconi anemia complementation group D2
Fanconi anemia complementation group E
Fanconi anemia complementation group F
Fanconi anemia complementation group G
Fanconi anemia complementation group I
Fanconi anemia complementation group J
Fanconi anemia complementation group L
Fanconi anemia complementation group N
Fanconi anemia complementation group O
Fanconi anemia complementation group P
Fanconi anemia complementation group Q
Fanconi anemia, complementation group M
Fatigue
Feeding difficulties
Feeding difficulties in infancy
Female pseudohermaphroditism
Fetal growth restriction
Fever
Fine hair
Finger syndactyly
Flat occiput
Flexion contracture
Focal impaired awareness seizure
Focal segmental glomerulosclerosis
Foot dorsiflexor weakness
Foot polydactyly
Forearm reduction defects
Frasier syndrome
Freckling
Frequent falls
Frontal bossing
Full cheeks
Fumarase deficiency
Furrowed tongue
Gait ataxia
Gait disturbance
Gardner syndrome
Gastric cancer
Gastrointestinal hemorrhage
Gastrointestinal stromal tumor
Gaze-evoked nystagmus
Generalized hyperpigmentation
Generalized hypotonia
Generalized juvenile polyposis/juvenile polyposis coli
Generalized myoclonic seizure
Genu recurvatum
Genu valgum
Gingival overgrowth
Glaucoma
Glioblastoma
Glioma
Glioma susceptibility 2
Glioma susceptibility 3
Gliosis
Global developmental delay
Glucose intolerance
Glycosuria
Gonadal dysgenesis
Gorlin syndrome
Growth delay
Gynecomastia
Hallucinations
Hammertoe
Hand polydactyly
Hashimoto thyroiditis
Hearing abnormality
Hearing impairment
Heart septal defect
Hemangioma
Hematochezia
Hematologic neoplasm
Hematuria
Hemimegalencephaly
Hemiplegia/hemiparesis
Hemivertebrae
Hemolytic anemia
Hemoptysis
Hepatic steatosis
Hepatoblastoma
Hepatocellular carcinoma
Hepatocellular necrosis
Hepatomegaly
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Hereditary disease
Hereditary leiomyomatosis and renal cell cancer
Hereditary nonpolyposis colorectal carcinoma
Hereditary pancreatitis
Hereditary pheochromocytoma-paraganglioma
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Hernia of the abdominal wall
High forehead
High palate
Hip dislocation
Hirschsprung disease, susceptibility to, 1
Hirsutism
Holoprosencephaly 7
Holoprosencephaly sequence
Horseshoe kidney
Hydrocephalus, nonsyndromic, autosomal recessive 1
Hyperactivity
Hypercalcemia
Hypercortisolism
Hyperextensible skin
Hyperhidrosis
Hyperinsulinemia
Hyperkeratosis
Hyperlordosis
Hypermagnesemia
Hypermelanotic macule
Hypermetropia
Hyperparathyroidism 1
Hyperphosphatemia
Hyperphosphaturia
Hypertelorism
Hypertensive crisis
Hypertensive disorder
Hyperthyroidism
Hypertonia
Hypertrichosis
Hypertriglyceridemia
Hypertrophic cardiomyopathy
Hypoalbuminemia
Hypocalcemia
Hypocalciuria
Hypoglycemia
Hypogonadism
Hypophosphatemic rickets
Hypopigmentation of hair
Hypopigmentation of the skin
Hypopigmented skin patches
Hypoplasia of penis
Hypoplasia of scrotum
Hypoplasia of the brainstem
Hypoplasia of the corpus callosum
Hypoplasia of the maxilla
Hypoplasia of the radius
Hypoplasia of the thymus
Hypoplasia of the ulna
Hypoplasia of the zygomatic bone
Hypoplastic iliac wing
Hypoplastic left heart syndrome
Hypoplastic toenails
Hyporeflexia
Hyposmia
Hypospadias
Hypotelorism
Hypotension
Hypothyroidism
Hypotonia
Hypotrichosis 8
Hypsarrhythmia
IMAGe syndrome
Ichthyosis
Idiopathic generalized epilepsy
Idiopathic hypereosinophilic syndrome
Immunodeficiency
Impaired smooth pursuit
Incoordination
Increased CSF lactate
Increased analgesia from kappa-opioid receptor agonist, female-specific
Increased bone mineral density
Increased circulating lactate concentration
Increased intracranial pressure
Increased intramyocellular lipid droplets
Increased nuchal translucency
Infantile spasms
Inflammatory abnormality of the eye
Inguinal hernia
Intellectual disability
Intellectual disability, autosomal dominant 15
Intellectual disability, autosomal dominant 16
Intellectual disability, mild
Intellectual disability, profound
Intention tremor
Interstitial lung disease 2
Interstitial nephritis
Intestinal bleeding
Intestinal malrotation
Intestinal obstruction
Intestinal polyposis
Intracranial hemorrhage
Involuntary movements
Iris coloboma
Iron deficiency anemia
Irregular hyperpigmentation
Irregular menstruation
Isolated focal cortical dysplasia type II
Isolated spina bifida
Joint contracture of the hand
Joint dislocation
Joint hypermobility
Joint laxity
Joint swelling
Juvenile myelomonocytic leukemia
Juvenile onset
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Karyomegalic interstitial nephritis
Kidney damage
Kyphoscoliosis
Kyphosis
Lack of skin elasticity
Lacrimation abnormality
Lactic acidosis
Large fontanelles
Leigh syndrome
Leukemia
Leukemia, acute lymphoblastic, susceptibility to
Leukocoria
Leukopenia
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome 2
Limitation of joint mobility
Limited elbow extension
Linear nevus sebaceous syndrome
Lipoatrophy
Liver failure
Long eyelashes
Long face
Long nose
Long penis
Long philtrum
Low anterior hairline
Low posterior hairline
Low-set ears
Low-set, posteriorly rotated ears
Lower limb muscle weakness
Lower limb spasticity
Lung adenocarcinoma
Lymphadenopathy
Lymphangioma
Lymphangiomyomatosis
Lymphedema
Lymphoma
Lymphopenia
Lynch syndrome
Lynch syndrome 1
Lynch syndrome 4
Lynch syndrome 5
Lynch syndrome 8
Macrocephaly
Macrocephaly-autism syndrome
Macrocytic anemia
Macroglossia
Macrogyria
Macrotia
Madelung deformity
Malabsorption
Malar flattening
Male infertility
Male pseudohermaphroditism
Malformation of the heart and great vessels
Malignant melanoma of skin
Malignant tumor of prostate
Malignant tumor of testis
Malignant tumor of thyroid gland
Malignant tumor of urinary bladder
Mandibular hypoplasia-deafness-progeroid syndrome
Mandibular prognathia
Mantle cell lymphoma
Mastocytosis
Meacham syndrome
Mediastinal lymphadenopathy
Medullary thyroid carcinoma
Medulloblastoma
Megacolon
Melanocytic nevus
Melanoma
Melanoma and neural system tumor syndrome
Melanoma, cutaneous malignant, susceptibility to, 1
Melanoma, cutaneous malignant, susceptibility to, 2
Melanoma, cutaneous malignant, susceptibility to, 3
Melanoma, cutaneous malignant, susceptibility to, 5
Melanoma, cutaneous malignant, susceptibility to, 8
Melanoma, cutaneous malignant, susceptibility to, 9
Melanoma-pancreatic cancer syndrome
Memory impairment
Meningioma
Mental deterioration
Mesothelioma, malignant
Metabolic acidosis
Metachondromatosis
Metaphyseal irregularity
Metaphyseal widening
Metatarsus adductus
Microcephaly, normal intelligence and immunodeficiency
Microcornea
Microcytic anemia
Microdontia
Micrognathia
Micromelia
Micronodular cirrhosis
Micropenis
Microphthalmia
Microtia
Midface capillary hemangioma
Midface retrusion
Migraine
Miscarriage
Mismatch repair cancer syndrome 1
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial disease
Mitral regurgitation
Mitral stenosis
Mitral valve prolapse
Monocytopenia with susceptibility to infections
Mosaic variegated aneuploidy syndrome 1
Motor delay
Movement disorder
Mucosal telangiectasiae
Muir-Torré syndrome
Multicystic kidney dysplasia
Multiple congenital anomalies
Multiple congenital exostosis
Multiple endocrine neoplasia
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 4
Multiple endocrine neoplasia, type 1
Multiple lipomas
Muscle spasm
Muscle weakness
Muscular atrophy
Myalgia
Myelodysplasia
Myelodysplastic syndrome
Myeloproliferative disorder
Myhre syndrome
Myoclonus
Myopathy
Myopia
Narrow chest
Narrow face
Narrow forehead
Narrow mouth
Nasal polyposis
Nasopharyngeal carcinoma
Nausea and vomiting
Neonatal hypotonia
Neonatal respiratory distress
Neonatal severe primary hyperparathyroidism
Neoplasm
Neoplasm of esophagus
Neoplasm of lung
Neoplasm of stomach
Neoplasm of the gastrointestinal tract
Neoplasm of the nervous system
Neoplasm of the pancreas
Neoplasm of the skeletal system
Neoplasm of the skin
Neoplasm of the small intestine
Neoplasm of uterus
Nephroblastoma
Nephrocalcinosis
Nephrolithiasis
Nephronophthisis
Nephrotic syndrome
Nephrotic syndrome, type 4
Neuroblastoma
Neuroblastoma, susceptibility to, 2
Neuroblastoma, susceptibility to, 3
Neurodegeneration
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis, type 2
Neurofibromatosis-Noonan syndrome
Neutropenia
Nevus sebaceous
Nijmegen breakage syndrome-like disorder
Non-Hodgkin lymphoma
Non-midline cleft of the upper lip
Non-small cell lung carcinoma
Nonpapillary renal cell carcinoma
Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
Noonan syndrome
Noonan syndrome with multiple lentigines
Numerous nevi
Nystagmus
Obesity
Obstructive sleep apnea syndrome
Ocular albinism with congenital sensorineural hearing loss
Oculocutaneous albinism
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 4
Oculomotor apraxia
Oligodontia-cancer predisposition syndrome
Oligohydramnios
Onion bulb formation
Opacification of the corneal stroma
Open mouth
Ophthalmoparesis
Ophthalmoplegia
Optic atrophy
Optic nerve dysplasia
Orofacial cleft
Osteoarthritis
Osteolysis
Osteopenia
Otitis media
Ovarian neoplasm
Overgrowth
Overlapping fingers
Ovoid vertebral bodies
PDA1
PTEN hamartoma tumor syndrome
Pallor
Palmoplantar keratoderma
Palpebral edema
Pancreatic adenocarcinoma
Pancreatic cancer, susceptibility to, 2
Pancreatic cancer, susceptibility to, 3
Pancreatic cancer, susceptibility to, 4
Pancreatitis
Pancytopenia
Papillary renal cell carcinoma
Papillary renal cell carcinoma type 1
Papillary thyroid carcinoma
Paraganglioma
Paragangliomas 1
Paragangliomas 2
Paragangliomas 3
Paragangliomas 4
Paragangliomas 5
Parathyroid carcinoma
Paresthesia
Partial congenital absence of teeth
Patellar aplasia
Pectus carinatum
Pectus excavatum
Peptic ulcer
Periampullary adenoma
Peripheral arteriovenous fistula
Peripheral neuropathy
Perlman syndrome
Pes cavus
Pes planus
Peutz-Jeghers syndrome
Pheochromocytoma
Photophobia
Piebaldism
Pigmented nodular adrenocortical disease, primary, 1
Pilomatrixoma
Pituitary dependent hypercortisolism
Plagiocephaly
Platyspondyly
Pleuropulmonary blastoma
Pointed chin
Polycystic kidney disease
Polycystic ovaries
Polydactyly
Polyhydramnios
Polymicrogyria
Polyposis syndrome, hereditary mixed, 2
Poor suck
Porencephalic cyst
Portal hypertension
Postaxial hand polydactyly
Posteriorly rotated ears
Postmenopausal osteoporosis
Preauricular skin tag
Precocious puberty
Premature birth
Premature chromatid separation trait
Premature graying of hair
Premature ovarian failure
Prematurely aged appearance
Primary adrenocortical insufficiency
Primary amenorrhea
Primary dilated cardiomyopathy
Primary hyperparathyroidism
Primary microcephaly
Primary myelofibrosis
Progeroid facial appearance
Progressive
Prolactin-producing pituitary gland adenoma
Prominent forehead
Prominent metopic ridge
Prominent nasal bridge
Prominent nose
Prominent occiput
Proptosis
Proteinuria
Proteus syndrome
Proteus-like syndrome
Protruding ear
Pruritus
Psychotic disorder
Ptosis
Pulmonary arterial hypertension
Pulmonary embolism
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
Pulmonary hypoplasia
Pulmonary infiltrates
Pulmonic stenosis
Pyle metaphyseal dysplasia
Pyloric stenosis
RASopathy
Radial deviation of finger
Radioulnar synostosis
Rapadilino syndrome
Rectal neoplasm
Recurrent aphthous stomatitis
Recurrent bronchitis
Recurrent fractures
Recurrent infections
Recurrent lower respiratory tract infections
Recurrent pneumonia
Recurrent respiratory infections
Recurrent urinary tract infections
Recurrent viral infections
Reduced bone mineral density
Reduced tendon reflexes
Reduced visual acuity
Relative macrocephaly
Renal cyst
Renal hypodysplasia/aplasia 1
Renal hypoplasia
Renal hypoplasia/aplasia
Renal insufficiency
Renal neoplasm
Renal tubular dysgenesis
Respiratory failure
Respiratory insufficiency
Restrictive ventilatory defect
Retinal calcification
Retinal degeneration
Retinal detachment
Retinal disorder
Retinitis pigmentosa
Retinoblastoma
Retrognathia
Revesz syndrome
Rhabdoid tumor predisposition syndrome 1
Rhabdoid tumor predisposition syndrome 2
Rhabdomyosarcoma
Rhabdomyosarcoma, embryonal, 2
Rothmund-Thomson syndrome
Round face
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
Sacral dimple
Salivary gland neoplasm
Sandal gap
Sarcoma
Scapular winging
Schwannomatosis 1
Scoliosis
Seckel syndrome
Secondary amenorrhea
Seizure
Sensorineural hearing loss disorder
Sepsis
Severe combined immunodeficiency disease
Severe global developmental delay
Severe short stature
Short 4th metacarpal
Short chin
Short distal phalanx of finger
Short finger
Short foot
Short fourth metatarsal
Short long bone
Short metacarpal
Short metatarsal
Short neck
Short nose
Short palpebral fissure
Short philtrum
Short ribs
Short thorax
Short thumb
Short toe
Shwachman-Diamond syndrome 1
Silver-Russell syndrome 1
Simplified gyral pattern
Simpson-Golabi-Behmel syndrome type 1
Single transverse palmar crease
Single umbilical artery
Sinusitis
Situs inversus
Skeletal dysplasia
Skin ulcer
Skin/hair/eye pigmentation, variation in, 2
Sleep abnormality
Slender nose
Sloping forehead
Slow-growing hair
Small cell lung carcinoma
Small for gestational age
Small hand
Small nail
Soft tissue sarcoma
Solitary median maxillary central incisor syndrome
Sparse and thin eyebrow
Sparse hair
Spasticity
Specific learning disability
Spina bifida occulta
Spinal canal stenosis
Splenomegaly
Spontaneous hematomas
Spotty hypopigmentation
Squamous cell carcinoma
Squamous cell carcinoma of the head and neck
Stage 5 chronic kidney disease
Status epilepticus
Steatorrhea
Steppage gait
Stillbirth
Strabismus, susceptibility to
Subacute progressive viral hepatitis
Subcutaneous hemorrhage
Sudden cardiac death
Supernumerary nipple
Supravalvar aortic stenosis
Syndactyly
Synophrys
T-cell acute lymphoblastic leukemia
T-cell prolymphocytic leukemia
Tachycardia
Talipes
Tapered finger
Teeth, supernumerary
Telangiectases of the cheeks
Telangiectasia
Telangiectasia of the skin
Telecanthus
Tented upper lip vermilion
Testicular neoplasm
Tetralogy of Fallot
Thick corpus callosum
Thick eyebrow
Thick lower lip vermilion
Thickened calvaria
Thickened nuchal skin fold
Thickened skin
Thin skin
Thin upper lip vermilion
Thin vermilion border
Thrombocythemia 2
Thrombocytopenia
Thrombophilia
Thrombophilia due to thrombin defect
Thrombophlebitis
Thumbs, congenital Clasped
Thyroid cancer, nonmedullary, 2
Thyroid gland carcinoma
Thyroid tumor
Tietz syndrome
Tinnitus
Toe syndactyly
Tooth agenesis
Tracheoesophageal fistula
Transitional cell carcinoma of the bladder
Transposition of the great arteries
Tremor
Triangular face
Triangular mouth
Trichothiodystrophy 1, photosensitive
Trigonocephaly
Truncal obesity
Trypsinogen deficiency
Tuberous sclerosis 1
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Type 2 diabetes mellitus
Tyrosinase-negative oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
UV-induced skin damage, susceptibility to
Umbilical hernia
Underdeveloped nasal alae
Unilateral renal agenesis
Upslanted palpebral fissure
Urinary bladder carcinoma
Urogenital fistula
Uterine leiomyosarcoma
VACTERL association, X-linked, with or without hydrocephalus
VACTERL with hydrocephalus
Vaginal neoplasm
Venous insufficiency
Ventricular septal defect
Vertebral compression fracture
Vertebral fusion
Vertebral segmentation defect
Vertigo
Vesicoureteral reflux
Vestibular hyporeflexia
Visceral angiomatosis
Visual field defect
Visual impairment
Vitreous hemorrhage
Volvulus
Von Hippel-Lindau syndrome
Waardenburg syndrome
Waardenburg syndrome type 2A
Weaver syndrome
Webbed neck
Weight loss
Werner syndrome
Wide anterior fontanel
Wide mouth
Wide nasal bridge
Wide nose
Wilms tumor 1
Wolff-Parkinson-White pattern
XFE progeroid syndrome
Xeroderma pigmentosum
Xeroderma pigmentosum group A
Xeroderma pigmentosum group B
Xeroderma pigmentosum variant type
Xeroderma pigmentosum, group C
Xeroderma pigmentosum, group D
Xeroderma pigmentosum, group E
Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group G
AIP (11q13.2);
ALK (2p23.2-23.1);
APC (5q22.2);
ATM (11q22.3);
ATR (3q23)
more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Ordering Information
Specimen Source:
Help
Buccal swab
Cell culture
Cord blood
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Saliva
View specimen requirements
Who can order: Help
Genetic Counselor
Health Care Provider
Licensed Physician
Test Order Code:
Help
FT-TP00048
Contact Policy:
Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test development:
Help
Test developed by laboratory (no manufacturer test name)
Informed consent required:
Help
Decline to answer
Pre-test genetic counseling required:
Help
Decline to answer
Post-test genetic counseling required:
Help
Decline to answer
Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
Help
Total conditions: 1166
Condition/Phenotype
Identifier
Test Targets
Genes
Help
Total genes: 141
Gene
Associated Condition
Germline or Somatic
Allele (Lab-provided)
Variant in NCBI
Methodology
Total methods: 2
Method Category
Help
Test method
Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Diagnosis;
Mutation Confirmation
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
Help
Tests performed
Entire test performed in-house
Analytical Validity:
Help
Analytical sensitivity, specificity and accuracy are >98%, 96% and 97% respectively.
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
No
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
Help
Not provided
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.