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Fulgent Genetics
Comprehensive Primary Immunodeficiency NGS Panel
Comprehensive Primary Immunodeficiency NGS Panel
At a Glance
Diagnosis;
Mutation Confirmation
Abnormal hair quantity;
3-Methylglutaconic aciduria type 2;
3-methylglutaconic aciduria type 1
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Abnormal hair quantity
3-Methylglutaconic aciduria type 2
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria, type VIIB
3MC syndrome 1
3MC syndrome 2
Abdominal pain
Abnormal blistering of the skin
Abnormal ciliary motility
Abnormal dental enamel morphology
Abnormal dental morphology
Abnormal dermatoglyphics
Abnormal endocardium morphology
Abnormal eyebrow morphology
Abnormal eyelid morphology
Abnormal facial shape
Abnormal finger morphology
Abnormal fingernail morphology
Abnormal foot morphology
Abnormal gastric mucosa morphology
Abnormal helix morphology
Abnormal leukocyte morphology
Abnormal localization of kidney
Abnormal lower motor neuron morphology
Abnormal macular morphology
Abnormal morphology of female internal genitalia
Abnormal nail morphology
Abnormal nipple morphology
Abnormal oral cavity morphology
Abnormal palate morphology
Abnormal pericardium morphology
Abnormal pleura morphology
Abnormal posturing
Abnormal pulmonary valve morphology
Abnormal pyramidal sign
Abnormal renal tubule morphology
Abnormal speech pattern
Abnormal testis morphology
Abnormal thymus morphology
Abnormal toe morphology
Abnormal toenail morphology
Abnormal vagina morphology
Abnormality of coagulation
Abnormality of dental color
Abnormality of extrapyramidal motor function
Abnormality of immune system physiology
Abnormality of metabolism/homeostasis
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 hand
Abnormality of the liver
Abnormality of the menstrual cycle
Abnormality of the outer ear
Abnormality of the pharynx
Abnormality of the pulmonary artery
Abnormality of the skeletal system
Abnormality of the spleen
Abnormality of the thyroid gland
Abnormality of the tongue
Abnormality of the urinary system
Abnormality of thrombocytes
Absent outer dynein arms
Absent thumb
Acidosis
Acne inversa, familial, 2
Acquired polycythemia vera
Acute kidney injury
Acute leukemia
Acute lymphoid leukemia
Acute myeloid leukemia
Adenoma sebaceum
Afibrinogenemia
Agammaglobulinemia
Agammaglobulinemia 2, autosomal recessive
Agammaglobulinemia 3, autosomal recessive
Agammaglobulinemia 4, autosomal recessive
Agammaglobulinemia 5, autosomal dominant
Agammaglobulinemia 6, autosomal recessive
Agammaglobulinemia 7, autosomal recessive
Age related macular degeneration 13
Age related macular degeneration 14
Age related macular degeneration 15
Age related macular degeneration 4
Age related macular degeneration 9
Aicardi-Goutieres syndrome 1
Aicardi-Goutieres syndrome 2
Aicardi-Goutieres syndrome 3
Aicardi-Goutieres syndrome 4
Aicardi-Goutieres syndrome 5
Aicardi-Goutieres syndrome 6
Aicardi-Goutieres syndrome 7
Albinism
Allergic rhinitis
Alopecia
Alzheimer disease
Aminoaciduria
Amyotrophic lateral sclerosis
Anauxetic dysplasia 1
Anemia
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Anonychia
Apathy
Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the skin
Aplastic anemia
Aplastic/hypoplastic toenail
Arachnoid cyst
Arteriovenous malformation
Arthralgia
Arthritis
Ascites
Aspergillosis, susceptibility to
Asplenia
Asthma
Asymmetric growth
Asymmetry of the thorax
Ataxia-telangiectasia syndrome
Atelectasis
Atresia of the external auditory canal
Atrial septal defect 7
Atypical behavior
Atypical hemolytic-uremic syndrome
Atypical hemolytic-uremic syndrome with B factor anomaly
Atypical hemolytic-uremic syndrome with C3 anomaly
Atypical hemolytic-uremic syndrome with I factor anomaly
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Autoimmune hemolytic anemia
Autoimmune lymphoproliferative syndrome type 1
Autoimmune lymphoproliferative syndrome type 2A
Autoimmune lymphoproliferative syndrome type 2B
Autoimmune lymphoproliferative syndrome type 4
Autoimmune thrombocytopenia
Autoimmunity
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant inheritance
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal dominant nonsyndromic hearing loss 17
Autosomal dominant osteopetrosis 2
Autosomal recessive osteopetrosis 1
Autosomal recessive osteopetrosis 2
Autosomal recessive osteopetrosis 4
Autosomal recessive osteopetrosis 5
Autosomal recessive osteopetrosis 6
Autosomal recessive osteopetrosis 7
Autosomal recessive osteopetrosis 8
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Autosomal recessive spinocerebellar ataxia 7
Autosomal systemic lupus erythematosus type 16
Avascular necrosis
BENTA disease
Bacteremia, susceptibility to, 1
Baller-Gerold syndrome
Bannayan-Riley-Ruvalcaba syndrome
Baraitser-Winter syndrome
Basal cell carcinoma
Basal laminar drusen
Benign neoplasm of the central nervous system
Bernard Soulier syndrome
Bernard-Soulier syndrome, type A2, autosomal dominant
Beta-D-mannosidosis
Beta-thalassemia-X-linked thrombocytopenia syndrome
Bicuspid aortic valve
Bifid scrotum
Blau syndrome
Blepharophimosis
Bloom syndrome
Bone Paget disease
Bone marrow hypocellularity
Bone pain
Brachydactyly
Brain atrophy
Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 3
Brittle hair
Broad forehead
Broad nasal tip
Bronchiectasis with or without elevated sweat chloride 1
Bruising susceptibility
Budd-Chiari syndrome
Bulbar palsy
C1 inhibitor deficiency
C1Q deficiency
CFHR5 deficiency
CHARGE syndrome
CNS hypomyelination
COG6-congenital disorder of glycosylation
Camptodactyly
Camptodactyly of finger
Candidiasis, familial, 6
Candidiasis, familial, 8
Carcinoma of colon
Carcinoma of pancreas
Cardiac arrhythmia
Cardio-facio-cutaneous syndrome
Cardiofaciocutaneous syndrome 2
Cardiomyopathy
Carious teeth
Cataract
Cavernous hemangioma
Celiac disease, susceptibility to, 3
Cellular immunodeficiency
Central adrenal insufficiency
Cerebellar atrophy
Cerebellar vermis hypoplasia
Cerebral atrophy
Cerebral calcification
Cerebral cortical atrophy
Cerebrooculofacioskeletal syndrome 2
Cerebroretinal microangiopathy with calcifications and cysts 1
Cernunnos-XLF deficiency
Cheilitis
Chiari type II malformation
Chilblain lupus 1
Chilblain lupus 2
Chorioretinal coloboma
Choroid plexus papilloma
Chronic bronchitis
Chronic diarrhea
Chronic infantile neurological, cutaneous and articular syndrome
Chronic lung disease
Chronic mucocutaneous candidiasis
Chronic obstructive pulmonary disease
Chédiak-Higashi syndrome
Cirrhosis of liver
Cleft palate
Cleft upper lip
Clinodactyly
Clinodactyly of the 5th finger
Clubbing of fingers
Clubfoot
Coarctation of aorta
Coarse hair
Coarse metaphyseal trabecularization
Cognitive impairment
Cohen syndrome
Colitis
Colorectal cancer
Combined immunodeficiency
Combined immunodeficiency due to CD3gamma deficiency
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to ORAI1 deficiency
Combined immunodeficiency due to OX40 deficiency
Combined immunodeficiency due to STIM1 deficiency
Combined immunodeficiency due to STK4 deficiency
Combined immunodeficiency due to ZAP70 deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Combined immunodeficiency, X-linked
Common variable immunodeficiency
Communicating hydrocephalus
Complement component 2 deficiency
Complement component 3 deficiency
Complement component 5 deficiency
Complement component 6 deficiency
Complement component 7 deficiency
Complement component 9 deficiency
Complement component C1r/C1s deficiency
Complement component C1s deficiency
Complement factor b deficiency
Conductive hearing impairment
Cone-rod dystrophy
Congenital amegakaryocytic thrombocytopenia
Congenital bilateral aplasia of vas deferens from CFTR mutation
Congenital cerebellar hypoplasia
Congenital defect of folate absorption
Congenital ocular coloboma
Congenital omphalocele
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Congestive heart failure
Conjunctivitis
Conotruncal heart malformations
Constipation
Constitutional megaloblastic anemia with severe neurologic disease
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Corneal opacity
Corpus callosum, agenesis of
Cortical myoclonus
Cough
Cowden syndrome
Cranial asymmetry
Cranial nerve paralysis
Cryptorchidism
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Curly hair
Cutaneous anergy
Cutaneous finger syndactyly
Cyclical neutropenia
Cystic fibrosis
Cystic hygroma
DNA ligase IV deficiency
Dandy-Walker syndrome
Deafness-lymphedema-leukemia syndrome
Death in infancy
Decreased T cell activation
Decreased circulating IgG concentration
Decreased circulating IgG2 concentration
Decreased circulating antibody concentration
Decreased circulating total IgM
Decreased lymphocyte apoptosis
Decreased proportion of CD4-positive helper T cells
Decreased response to growth hormone stimulation test
Deep philtrum
Deeply set eye
Defective T cell proliferation
Deficiency of alpha-mannosidase
Delayed eruption of teeth
Delayed skeletal maturation
Delayed speech and language development
Dental malocclusion
Depressed nasal bridge
Depressed nasal ridge
Developmental cataract
Developmental malformations-deafness-dystonia syndrome
Developmental regression
DiGeorge syndrome
Diabetes mellitus
Diabetes mellitus type 1
Diamond-Blackfan anemia
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia 9
Diarrhea
Disinhibited behavior
Displacement of the urethral meatus
Disseminated intravascular coagulation
Down syndrome
Downslanted palpebral fissures
Downturned corners of mouth
Duodenal atresia
Duodenal stenosis
Dysarthria
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
Dyssynergia
EEG abnormality
Ectodermal dysplasia and immunodeficiency 2
Eculizumab, poor response to
Eczematoid dermatitis
Elevated circulating creatine kinase concentration
Elevated circulating hepatic transaminase concentration
Elevated red cell adenosine deaminase activity
Emphysema
Encephalitis
Endometrial carcinoma
Enlarged thorax
Enterocolitis
Epicanthus
Epidermal nevus
Epidermodysplasia verruciformis, susceptibility to, 1
Epistaxis
Erysipelas
Esophageal stenosis
Everted lower lip vermilion
Extramedullary hematopoiesis
FADD-related immunodeficiency
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Factor H deficiency
Factor V deficiency
Factor VII deficiency
Factor XIII, A subunit, deficiency of
Factor XIII, b subunit, deficiency of
Failure to thrive
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial acne inversa
Familial acute necrotizing encephalopathy
Familial amyloid nephropathy with urticaria AND deafness
Familial cancer of breast
Familial chronic mucocutaneous candidiasis
Familial cold autoinflammatory syndrome
Familial cold autoinflammatory syndrome 2
Familial cold autoinflammatory syndrome 3
Familial expansile osteolysis
Familial hemophagocytic lymphohistiocytosis 2
Familial hemophagocytic lymphohistiocytosis 3
Familial hemophagocytic lymphohistiocytosis 4
Familial hemophagocytic lymphohistiocytosis 5
Familial isolated congenital asplenia
Familial meningioma
Familial visceral amyloidosis, Ostertag type
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
Fasciculations
Feeding difficulties
Feeding difficulties in infancy
Fetal growth restriction
Fever
Fibrous dysplasia of jaw
Finger syndactyly
Flat face
Focal segmental glomerulosclerosis 4, susceptibility to
Follicular hyperplasia
Follicular lymphoma, susceptibility to, 1
Forearm reduction defects
Frontal bossing
Frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Full cheeks
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Gastric lymphoma
Gastritis
Gastrointestinal hemorrhage
Gastrointestinal stromal tumor
Generalized hyperpigmentation
Generalized hypopigmentation
Generalized hypotonia
Generalized pustular psoriasis
Genu recurvatum
Gingival bleeding
Gingival overgrowth
Glaucoma
Glioma susceptibility 2
Glioma susceptibility 3
Global developmental delay
Glucocorticoid deficiency 1
Glucose-6-phosphate transport defect
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Graft-versus-host disease, susceptibility to
Granulomatous disease, chronic, X-linked
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Growth delay
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
H syndrome
Haim-Munk syndrome
Hashimoto thyroiditis
Hearing impairment
Helicobacter pylori infection, susceptibility to
Hemangioma
Hematochezia
Hematologic neoplasm
Hematuria
Hemifacial hypertrophy
Hemimegalencephaly
Hemiplegia/hemiparesis
Hemolytic anemia
Hemolytic uremic syndrome, atypical, susceptibility to
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Hemolytic-uremic syndrome
Hemoptysis
Hennekam lymphangiectasia-lymphedema syndrome 1
Heparin cofactor II deficiency
Hepatic veno-occlusive disease-immunodeficiency syndrome
Hepatitis B virus, susceptibility to
Hepatitis C virus, susceptibility to
Hepatocellular carcinoma
Hepatomegaly
Hereditary acrodermatitis enteropathica
Hereditary angioedema type 1
Hereditary diffuse gastric adenocarcinoma
Hereditary disease
Hereditary factor IX deficiency disease
Hereditary factor VIII deficiency disease
Hereditary factor XI deficiency disease
Hereditary neutrophilia
Hereditary nonpolyposis colorectal carcinoma
Hereditary pancreatitis
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome 2
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 6
Hermansky-Pudlak syndrome 7
Hermansky-Pudlak syndrome 8
Hermansky-Pudlak syndrome 9
Herpes simplex encephalitis, susceptibility to, 1
Herpes simplex encephalitis, susceptibility to, 3
Herpes simplex encephalitis, susceptibility to, 4
High forehead
High palate
Histiocytic medullary reticulosis
Horseshoe kidney
Hydrocephalus
Hydrops fetalis
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Hyper-IgE syndrome
Hyper-IgM syndrome type 1
Hyper-IgM syndrome type 2
Hyper-IgM syndrome type 3
Hyper-IgM syndrome type 5
Hyperhidrosis
Hyperimmunoglobulin D with periodic fever
Hyperinsulinism due to INSR deficiency
Hyperkeratosis
Hypermelanotic macule
Hyperphosphaturia
Hypertelorism
Hypertonia
Hypertrichosis
Hypertrophic cardiomyopathy
Hypocalcemia
Hypochromic microcytic anemia
Hypofibrinogenemia
Hypogonadotropic hypogonadism 5 with or without anosmia
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Hypophosphatemic rickets
Hypopigmentation of hair
Hypopigmentation of the fundus
Hypopigmentation of the skin
Hypopigmented skin patches
Hypoplasia of the corpus callosum
Hypoplasia of the maxilla
Hypoplasia of the radius
Hypoplasia of the thymus
Hypoplasia of the ulna
Hypoplastic left heart syndrome 2
Hypoproteinemia, hypercatabolic
Hyporeflexia
Hypospadias
Hypotelorism
Hypothyroidism
Hypothyroidism, congenital, nongoitrous, 5
Hypotonia
IL21-related infantile inflammatory bowel disease
Ichthyosis
Idiopathic CD4 lymphocytopenia
IgAD1
IgE responsiveness, atopic
Immotile cilia
Immotile sperm
Immunodeficiency
Immunodeficiency 104
Immunodeficiency 14
Immunodeficiency 18
Immunodeficiency 19
Immunodeficiency 25
Immunodeficiency 27A
Immunodeficiency 28
Immunodeficiency 31B
Immunodeficiency 32B
Immunodeficiency 35
Immunodeficiency 51
Immunodeficiency 67
Immunodeficiency due to CD25 deficiency
Immunodeficiency due to MASP-2 deficiency
Immunodeficiency due to ficolin3 deficiency
Immunodeficiency, common variable, 1
Immunodeficiency, common variable, 2
Immunodeficiency, common variable, 3
Immunodeficiency, common variable, 5
Immunodeficiency, common variable, 6
Immunodeficiency, common variable, 7
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Immunoglobulin A deficiency 2
Incoordination
Increased circulating antibody concentration
Increased circulating ferritin concentration
Infantile nephronophthisis
Infertility disorder
Inflammatory abnormality of the eye
Inflammatory bowel disease 1
Inflammatory bowel disease 25
Inflammatory bowel disease 28
Inflammatory skin and bowel disease, neonatal, 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Intellectual disability
Intellectual disability, autosomal dominant 2
Intellectual disability, mild
Interstitial lung disease 2
Intestinal atresia
Intestinal malrotation
Intracranial hemorrhage
Invasive pneumococcal disease, recurrent isolated
Iris coloboma
Irregular dentition
Irregular hyperpigmentation
Ischemic stroke
Isolated microcephaly
Joint hemorrhage
Joint hypermobility
Joint laxity
Joint swelling
Joubert syndrome 10
Juvenile myelomonocytic leukemia
Kabuki syndrome 1
Kabuki syndrome 2
Kartagener syndrome
Kyphoscoliosis
Lacrimation abnormality
Lactic acidosis
Language disorder
Large congenital melanocytic nevus
Left ventricular hypertrophy
Leprechaunism syndrome
Leukemia
Leukocyte adhesion deficiency 1
Leukocyte adhesion deficiency 3
Leukocyte adhesion deficiency type II
Leukopenia
Limitation of joint mobility
Liver failure
Long QT syndrome
Long philtrum
Low posterior hairline
Low-set ears
Low-set, posteriorly rotated ears
Lung carcinoma
Lymphadenopathy
Lymphangioma
Lymphedema
Lymphoma
Lymphopenia
Lymphoproliferative disorder
Lymphoproliferative syndrome 1
Lymphoproliferative syndrome 2
Lynch syndrome 4
Lynch syndrome 5
Lysinuric protein intolerance
MHC class I deficiency
MHC class II deficiency
MOGS-congenital disorder of glycosylation
Macrocephaly
Macrocephaly-autism syndrome
Macrocytic anemia
Macroglobulinemia, Waldenstrom, 1
Macrogyria
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Macular degeneration, X-linked atrophic
Majeed syndrome
Malabsorption
Malar flattening
Malaria, susceptibility to
Male infertility
Malignant tumor of prostate
Malignant tumor of testis
Malignant tumor of thyroid gland
Mannose-binding lectin deficiency
McLeod neuroacanthocytosis syndrome
Mediastinal lymphadenopathy
Medulloblastoma
Melanocytic nevus
Melanoma
Melanoma, cutaneous malignant, susceptibility to, 1
Melanoma, cutaneous malignant, susceptibility to, 9
Membranous nephropathy
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Meningioma
Meningocele
Mental deterioration
Mesangiocapillary glomerulonephritis
Mesothelioma, malignant
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Mevalonic aciduria
Microcephaly, normal intelligence and immunodeficiency
Micrognathia
Micropenis
Microtia
Microvascular complications of diabetes, susceptibility to, 4
Migraine
Miscarriage
Monocytopenia with susceptibility to infections
Monocytosis
Motor delay
Multiple congenital anomalies
Multiple congenital anomalies-hypotonia-seizures syndrome 2
Multiple gastrointestinal atresias
Multiple myeloma
Multiple sclerosis, susceptibility to, 5
Muscle weakness
Muscular atrophy
Mutism
Myalgia
Mycobacterium tuberculosis, susceptibility to
Myelodysplastic syndrome
Myeloperoxidase deficiency
Myocardial infarction, susceptibility to, 1
Myopathy
Myopathy, tubular aggregate, 1
Myopathy, tubular aggregate, 2
Myopia
Nail dystrophy
Narrow chest
Narrow forehead
Narrow mouth
Narrow nasal ridge
Nasal polyposis
Nausea and vomiting
Neonatal hypotonia
Neonatal respiratory distress
Neoplasm
Neoplasm of stomach
Neoplasm of the pancreas
Nephroblastoma
Nephrocalcinosis
Nephrotic syndrome
Netherton syndrome
Neural tube defects, folate-sensitive
Neurocutaneous melanocytosis
Neuronal ceroid lipofuscinosis 2
Neutropenia
Neutropenia, severe congenital, 1, autosomal dominant
Neutropenia, severe congenital, 2, autosomal dominant
Neutrophil immunodeficiency syndrome
Nevus sebaceous
Nijmegen breakage syndrome-like disorder
Non-Hodgkin lymphoma
Non-small cell lung carcinoma
Nonarteritic anterior ischemic optic neuropathy, susceptibility to
Nonimmune chronic idiopathic neutropenia of adults
Noonan syndrome
Noonan syndrome 3
Normocytic anemia
Normophosphatemic familial tumoral calcinosis
Numerous congenital melanocytic nevi
Numerous nevi
Nystagmus
Ocular albinism
Onychomycosis
Open mouth
Ophthalmoplegia
Optic atrophy
Orofaciodigital syndrome I
Osteoarthritis
Osteodysplastic primordial dwarfism, type 1
Osteopenia
Otitis media
Overgrowth
Overlapping fingers
PMM2-congenital disorder of glycosylation
Pallor
Palmoplantar keratoderma
Pancreatic cancer, susceptibility to, 2
Pancreatic cancer, susceptibility to, 3
Pancytopenia
Panniculitis
Papillary renal cell carcinoma type 1
Papillon-Lefèvre syndrome
Paroxysmal nocturnal hemoglobinuria
Pectus carinatum
Pectus excavatum
Pericardial lymphangiectasia
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Periodontitis, aggressive 1
Periorbital fullness
Periventricular heterotopia
Persistent bleeding after trauma
Personality changes
Petechiae
Phosphate transport defect
Pityriasis rubra pilaris
Plagiocephaly
Plasminogen deficiency, type I
Pneumonia
Poikiloderma with neutropenia
Polyglandular autoimmune syndrome, type 1
Polyglucosan body myopathy
Polyhydramnios
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Porencephalic cyst
Porokeratosis 3, disseminated superficial actinic type
Postmenopausal osteoporosis
Precocious puberty
Predisposition to invasive fungal disease due to CARD9 deficiency
Pregnancy loss, recurrent, susceptibility to, 1
Premature graying of hair
Primary CD59 deficiency
Primary ciliary dyskinesia
Primary ciliary dyskinesia 10
Primary ciliary dyskinesia 11
Primary ciliary dyskinesia 12
Primary ciliary dyskinesia 13
Primary ciliary dyskinesia 14
Primary ciliary dyskinesia 15
Primary ciliary dyskinesia 16
Primary ciliary dyskinesia 17
Primary ciliary dyskinesia 19
Primary ciliary dyskinesia 2
Primary ciliary dyskinesia 22
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia 6
Primary ciliary dyskinesia 7
Primary ciliary dyskinesia 9
Primary dilated cardiomyopathy
Primary familial polycythemia due to EPO receptor mutation
Primary immunodeficiency syndrome due to p14 deficiency
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Primary intestinal lymphangiectasia
Primary microcephaly
Primary myelofibrosis
Progressive
Prolidase deficiency
Prolonged partial thromboplastin time
Prominence of the premaxilla
Prominent forehead
Prominent nasal bridge
Prominent occiput
Properdin deficiency, X-linked
Propionic acidemia
Proptosis
Proteasome-associated autoinflammatory syndrome 1
Proteinuria
Proximal muscle weakness
Pruritus
Pseudo von Willebrand disease
Psoriasis
Psoriasis 13, susceptibility to
Psoriasis 2
Psoriatic arthritis, susceptibility to
Ptosis
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
Pulmonary infiltrates
Pulmonary lymphangiectasia
Pulmonic stenosis
Purine-nucleoside phosphorylase deficiency
Pyloric stenosis
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Pyogenic bacterial infections due to MyD88 deficiency
RASopathy
RIDDLE syndrome
Rabson-Mendenhall syndrome
Radial aplasia-thrombocytopenia syndrome
Radioulnar synostosis
Rapadilino syndrome
Recurrent Neisseria infections due to factor D deficiency
Recurrent aphthous stomatitis
Recurrent bacterial infections
Recurrent bronchitis
Recurrent fractures
Recurrent fungal infections
Recurrent infections
Recurrent lower respiratory tract infections
Recurrent mycobacterial infections
Recurrent otitis media
Recurrent pneumonia
Recurrent respiratory infections
Recurrent sinopulmonary infections
Recurrent sinusitis
Recurrent skin infections
Recurrent urinary tract infections
Recurrent viral infections
Reduced bone mineral density
Reduced factor VIII activity
Reduced sperm motility
Reduced tendon reflexes
Relative macrocephaly
Renal hypodysplasia/aplasia 1
Renal hypoplasia
Renal hypoplasia/aplasia
Respiratory insufficiency
Respiratory insufficiency due to defective ciliary clearance
Respiratory tract infection
Restrictive ventilatory defect
Reticular dysgenesis
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa 23
Retinitis pigmentosa 3
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Revesz syndrome
Rheumatoid arthritis
Rhinitis
Rothmund-Thomson syndrome
Round face
Rubinstein-Taybi syndrome
SHORT syndrome
SLC35A1-congenital disorder of glycosylation
STING-associated vasculopathy with onset in infancy
Sacral dimple
Sarcoma
Schimke immuno-osseous dysplasia
Schizencephaly
Schizophrenia
Scoliosis
Scoliosis, isolated, susceptibility to, 3
Seizure
Sensorineural hearing loss disorder
Severe combined immunodeficiency disease
Severe combined immunodeficiency due to CARD11 deficiency
Severe combined immunodeficiency due to CORO1A deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe congenital neutropenia
Severe viral infection
Short 4th metacarpal
Short chin
Short clavicles
Short columella
Short fourth metatarsal
Short nose
Short palpebral fissure
Short philtrum
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
Shwachman-Diamond syndrome 1
Sideroblastic anemia
Simplified gyral pattern
Simpson-Golabi-Behmel syndrome type 2
Sinusitis
Situs inversus
Skeletal dysplasia
Skin rash
Skin ulcer
Sleep abnormality
Somatic sensory dysfunction
Sparse hair
Spasticity
Specific granule deficiency 1
Splenic rupture
Splenomegaly
Spondyloenchondrodysplasia with immune dysregulation
Squamous cell carcinoma of the head and neck
Stage 5 chronic kidney disease
Stenosis of the external auditory canal
Sterile multifocal osteomyelitis with periostitis and pustulosis
Strabismus, susceptibility to
Subcutaneous hemorrhage
Surfactant metabolism dysfunction, pulmonary, 5
Susceptibility to HIV infection
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Symmetrical dyschromatosis of extremities
Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4)
Syndromic microphthalmia
Syndromic multisystem autoimmune disease due to ITCH deficiency
Syringomyelia
Systemic lupus erythematosus
Systemic lupus erythematosus, susceptibility to, 6
Systemic lupus erythematosus, susceptibility to, 9
T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
TNF receptor-associated periodic fever syndrome (TRAPS)
TWIST1-related craniosynostosis
Teeth, supernumerary
Telangiectases of the cheeks
Telangiectasia of the skin
Telecanthus
Tented upper lip vermilion
Tetralogy of Fallot
Thick lower lip vermilion
Thickened glomerular basement membrane
Thickened nuchal skin fold
Thickened skin
Thin upper lip vermilion
Thrombocythemia 2
Thrombocythemia 3
Thrombocytopenia
Thrombocytopenia 1
Thrombocytosis
Thrombomodulin-related bleeding disorder
Thrombophilia
Thrombophilia due to activated protein C resistance
Thrombophilia due to protein C deficiency, autosomal dominant
Thrombophilia due to protein C deficiency, autosomal recessive
Thrombophilia due to protein S deficiency, autosomal dominant
Thrombophilia due to protein S deficiency, autosomal recessive
Thrombophilia, X-linked, due to factor 9 defect
Thrombophlebitis
Thyroid cancer, nonmedullary, 2
Tooth agenesis
Tracheoesophageal fistula
Transcobalamin II deficiency
Transitional cell carcinoma of the bladder
Triangular face
Trichohepatoenteric syndrome 1
Trichohepatoenteric syndrome 2
Trichothiodystrophy 1, photosensitive
Type 1 diabetes mellitus 10
Type 1 diabetes mellitus 12
Type I complement component 8 deficiency
Type II complement component 8 deficiency
Umbilical hernia
Upshaw-Schulman syndrome
Urinary bladder carcinoma
Uterine leiomyosarcoma
VACTERL association, X-linked, with or without hydrocephalus
VACTERL with hydrocephalus
Van Maldergem syndrome 1
Vasculitis
Vasculitis in the skin
Velocardiofacial syndrome
Ventricular septal defect
Ventricular septal defect 3
Vertebral segmentation defect
Vici syndrome
Visual impairment
Vitiligo-associated multiple autoimmune disease susceptibility 1
Warfarin response
Warts, hypogammaglobulinemia, infections, and myelokathexis
Webbed neck
Weight loss
White matter neuronal heterotopia
Wide anterior fontanel
Wide cranial sutures
Wide nasal bridge
Wiskott-Aldrich syndrome 2
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
X-linked cone-rod dystrophy 1
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked lymphoproliferative disease due to SH2D1A deficiency
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked severe combined immunodeficiency
X-linked severe congenital neutropenia
XFE progeroid syndrome
Xeroderma pigmentosum group B
Xeroderma pigmentosum, group D
Xeroderma pigmentosum, group F
ACD (16q22.1);
ACP5 (19p13.2);
ACTB (7p22.1);
ADA (20q13.12);
ADA2 (22q11.1)
more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Ordering Information
Specimen Source:
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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:
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FT-TP01094
Contact Policy:
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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:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 1048
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 472
Gene
Associated Condition
Germline or Somatic
Allele (Lab-provided)
Variant in NCBI
Methodology
Total methods: 2
Method Category
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Test method
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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:
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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:
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Tests performed
Analytical Validity:
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Analytical sensitivity, specificity and accuracy are >98%, 96% and 97% respectively.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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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:
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Not provided
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