GTR Home
Labcorp Genetics (formerly Invitae)
Invitae Inborn Errors of Immunity and Cytopenias Panel
Invitae Inborn Errors of Immunity and Cytopenias Panel
At a Glance
Diagnosis;
Pre-symptomatic;
Therapeutic management
X-linked sideroblastic anemia with ataxia;
3-methylglutaconic aciduria type 8;
3-methylglutaconic aciduria type 9
more...
⨉
X-linked sideroblastic anemia with ataxia
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria, type VIIB
ADULT syndrome
ALG6-congenital disorder of glycosylation 1C
Acne inversa, familial, 1
Acne inversa, familial, 2
Acquired polycythemia vera
Acute febrile neutrophilic dermatosis
Acute lymphoid leukemia
Acute myeloid leukemia
Adrenocortical carcinoma, hereditary
Agammaglobulinemia 2, autosomal recessive
Agammaglobulinemia 3, autosomal recessive
Agammaglobulinemia 4, autosomal recessive
Agammaglobulinemia 5, autosomal dominant
Agammaglobulinemia 6, autosomal recessive
Agammaglobulinemia 7, autosomal recessive
Agammaglobulinemia 8, autosomal dominant
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
Alagille syndrome due to a NOTCH2 point mutation
Anauxetic dysplasia 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Aplastic anemia
Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 2
Ataxia-pancytopenia syndrome
Ataxia-telangiectasia 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 disease, multisystem, infantile-onset, 2
Autoimmune disease, susceptibility to, 6
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Autoimmune interstitial lung disease-arthritis syndrome
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Autoimmune lymphoproliferative syndrome type 1
Autoimmune lymphoproliferative syndrome type 2A
Autoimmune lymphoproliferative syndrome type 2B
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Autoinflammation with arthritis and dyskeratosis
Autoinflammation with episodic fever and lymphadenopathy
Autoinflammation, immune dysregulation, and eosinophilia
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Autoinflammatory syndrome, familial, Behcet-like
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal dominant nonsyndromic hearing loss 1
Autosomal dominant nonsyndromic hearing loss 17
Autosomal dominant osteopetrosis 2
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Autosomal recessive osteopetrosis 1
Autosomal recessive osteopetrosis 2
Autosomal recessive osteopetrosis 4
Autosomal recessive osteopetrosis 5
Autosomal recessive osteopetrosis 7
Autosomal recessive osteopetrosis 8
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Autosomal systemic lupus erythematosus type 16
BENTA disease
BLOOD GROUP--LUTHERAN INHIBITOR
Baller-Gerold syndrome
Baraitser-Winter syndrome 1
Basal cell carcinoma, susceptibility to, 7
Basal laminar drusen
Bernard Soulier syndrome
Bernard-Soulier syndrome, type A2, autosomal dominant
Beta-thalassemia-X-linked thrombocytopenia syndrome
Bile acid malabsorption, primary, 1
Blau syndrome
Bleeding disorder, platelet-type, 13, susceptibility to
Bleeding disorder, platelet-type, 21
Bloom syndrome
Bone marrow failure syndrome 3
Bone marrow failure syndrome 4
Bone marrow failure syndrome 5
Bone osteosarcoma
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 3
Bronchiectasis with or without elevated sweat chloride 1
Budd-Chiari syndrome
C1 inhibitor deficiency
C1Q deficiency
CBL-related disorder
CHARGE syndrome
COPD, severe early onset
Café-au-lait macules with pulmonary stenosis
Candidiasis, familial, 6
Candidiasis, familial, 8
Candidiasis, familial, 9
Carcinoma of pancreas
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Celiac disease, susceptibility to, 3
Cerebrooculofacioskeletal syndrome 2
Cerebroretinal microangiopathy with calcifications and cysts 1
Cerebroretinal microangiopathy with calcifications and cysts 2
Cernunnos-XLF deficiency
Charcot-Marie-Tooth disease type 4B2
Chilblain lupus 1
Chilblain lupus 2
Cholestanol storage disease
Choroid plexus papilloma
Chronic infantile neurological, cutaneous and articular syndrome
Chylomicron retention disease
Chédiak-Higashi syndrome
Ciliary dyskinesia, primary, 37
Ciliary dyskinesia, primary, 39
Ciliary dyskinesia, primary, 40
Ciliary dyskinesia, primary, 42
Classic Hodgkin lymphoma
Cohen syndrome
Colorectal cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 6
Colorectal cancer, susceptibility to, 10
Colorectal cancer, susceptibility to, 12
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Combined immunodeficiency due to CD3gamma deficiency
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to GINS1 deficiency
Combined immunodeficiency due to LRBA deficiency
Combined immunodeficiency due to MALT1 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 moesin deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Combined immunodeficiency, X-linked
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 C1s deficiency
Complement factor b deficiency
Congenital amegakaryocytic thrombocytopenia
Congenital bilateral aplasia of vas deferens from CFTR mutation
Congenital defect of folate absorption
Congenital diarrhea 5 with tufting enteropathy
Congenital diarrhea 6
Congenital diarrhea 7 with exudative enteropathy
Congenital disorder of glycosylation, type ICC
Congenital dyserythropoietic anemia type 4
Congenital dyserythropoietic anemia, type II
Congenital glucose-galactose malabsorption
Congenital lactase deficiency
Congenital malabsorptive diarrhea 4
Congenital microvillous atrophy
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Congenital secretory diarrhea, chloride type
Congenital secretory sodium diarrhea 3
Congenital secretory sodium diarrhea 8
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Conotruncal heart malformations
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Cowden syndrome 1
Cowden syndrome 7
Cromer blood group system
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Cutaneous mastocytosis
Cyclical neutropenia
Cystic fibrosis
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
DDX41-related hematologic malignancy predisposition syndrome
DNA ligase IV deficiency
DOCK2 deficiency
Deafness-lymphedema-leukemia syndrome
Developmental malformations-deafness-dystonia syndrome
DiGeorge syndrome
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 12
Diamond-Blackfan anemia 13
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Diamond-Blackfan anemia 16
Diamond-Blackfan anemia 17
Diamond-Blackfan anemia 18
Diamond-Blackfan anemia 19
Diamond-Blackfan anemia 20
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia 9
Diaphyseal dysplasia
Diarrhea 10, protein-losing enteropathy type
Diarrhea 9
Dominant dystrophic epidermolysis bullosa with absence of skin
Down syndrome
Dyskeratosis congenita, X-linked
Dyskeratosis congenita, autosomal dominant 1
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 3
Dyskeratosis congenita, autosomal dominant 6
Dyskeratosis congenita, autosomal recessive 1
Dyskeratosis congenita, autosomal recessive 2
Dyskeratosis congenita, autosomal recessive 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 6
Dyslexia, susceptibility to, 1
Ectodermal dysplasia and immunodeficiency 2
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Eculizumab, poor response to
Ehlers-Danlos syndrome, periodontal type 2
Endometrial carcinoma
Enterokinase deficiency
Epidermodysplasia verruciformis, susceptibility to, 1
Epidermodysplasia verruciformis, susceptibility to, 2
Epidermodysplasia verruciformis, susceptibility to, 3
Epidermodysplasia verruciformis, susceptibility to, 4
Epidermolysis bullosa pruriginosa
FADD-related immunodeficiency
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Factor H deficiency
Factor I deficiency
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial acute necrotizing encephalopathy
Familial amyloid nephropathy with urticaria AND deafness
Familial cancer of breast
Familial cold autoinflammatory syndrome 1
Familial cold autoinflammatory syndrome 2
Familial cold autoinflammatory syndrome 3
Familial cold autoinflammatory syndrome 4
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
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 R
Fanconi anemia complementation group T
Fanconi anemia complementation group U
Fanconi anemia complementation group V
Fanconi anemia, complementation group S
Fanconi anemia, complementation group W
Farber lipogranulomatosis
Fibrous dysplasia of jaw
Gallbladder disease 4
Gastrointestinal stromal tumor
Generalized dominant dystrophic epidermolysis bullosa
Generalized pustular psoriasis
Germ cell tumor of testis
Glanzmann thrombasthenia 1
Glioma susceptibility 1
Glioma susceptibility 2
Glioma susceptibility 3
Glucose-6-phosphate transport defect
Graft-versus-host disease, susceptibility to
Granulocytopenia with immunoglobulin abnormality
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 2
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
H syndrome
Haim-Munk syndrome
Hajdu-Cheney syndrome
Hashimoto thyroiditis
Hearing loss, autosomal dominant 34, with or without inflammation
Helicobacter pylori infection, susceptibility to
Heme oxygenase 1 deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Hennekam lymphangiectasia-lymphedema syndrome 1
Hennekam lymphangiectasia-lymphedema syndrome 2
Hepatic veno-occlusive disease-immunodeficiency syndrome
Hepatitis B virus, susceptibility to
Hepatitis C virus, susceptibility to
Hepatitis, fulminant viral, susceptibility to
Hepatocellular carcinoma
Hereditary angioedema type 1
Hereditary diffuse gastric adenocarcinoma
Hereditary pancreatitis
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome 10
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
Histiocytic medullary reticulosis
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Hyper-IgE recurrent infection syndrome 3, autosomal recessive
Hyper-IgE recurrent infection syndrome 4, autosomal recessive
Hyper-IgE recurrent infection syndrome 5, autosomal recessive
Hyper-IgM syndrome type 1
Hyper-IgM syndrome type 2
Hyper-IgM syndrome type 3
Hyper-IgM syndrome type 5
Hyperimmunoglobulin D with periodic fever
Hyperuricemic nephropathy, familial juvenile type 4
Hypogonadotropic hypogonadism 5 with or without anosmia
Hypogonadotropic hypogonadism 7 with or without anosmia
Hypopigmentation, organomegaly, and delayed myelination and development
Hypoproteinemia, hypercatabolic
IL21-related infantile inflammatory bowel disease
IgE responsiveness, atopic
Immunodeficiency 104
Immunodeficiency 11b with atopic dermatitis
Immunodeficiency 14
Immunodeficiency 15a
Immunodeficiency 18
Immunodeficiency 19
Immunodeficiency 23
Immunodeficiency 25
Immunodeficiency 27A
Immunodeficiency 28
Immunodeficiency 31B
Immunodeficiency 32B
Immunodeficiency 35
Immunodeficiency 36
Immunodeficiency 37
Immunodeficiency 39
Immunodeficiency 45
Immunodeficiency 47
Immunodeficiency 49
Immunodeficiency 51
Immunodeficiency 53
Immunodeficiency 57
Immunodeficiency 60
Immunodeficiency 61
Immunodeficiency 62
Immunodeficiency 63 with lymphoproliferation and autoimmunity
Immunodeficiency 64
Immunodeficiency 65, susceptibility to viral infections
Immunodeficiency 67
Immunodeficiency 72 with autoinflammation
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Immunodeficiency 74, COVID-19-related, X-linked
Immunodeficiency 75
Immunodeficiency 76
Immunodeficiency 78 with autoimmunity and developmental delay
Immunodeficiency 83, susceptibility to viral infections
Immunodeficiency due to CD25 deficiency
Immunodeficiency, common variable, 1
Immunodeficiency, common variable, 10
Immunodeficiency, common variable, 12
Immunodeficiency, common variable, 14
Immunodeficiency, common variable, 2
Immunodeficiency, common variable, 3
Immunodeficiency, common variable, 4
Immunodeficiency, common variable, 5
Immunodeficiency, common variable, 6
Immunodeficiency, common variable, 7
Immunodeficiency, developmental delay, and hypohomocysteinemia
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Immunodeficiency-centromeric instability-facial anomalies syndrome 3
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Immunoglobulin A deficiency 2
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Immunoskeletal dysplasia with neurodevelopmental abnormalities
Infantile liver failure syndrome 2
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Inflammatory bowel disease 1
Inflammatory bowel disease 17
Inflammatory bowel disease 25
Inflammatory bowel disease 28
Inflammatory bowel disease 30
Inflammatory bowel disease, immunodeficiency, and encephalopathy
Inflammatory skin and bowel disease, neonatal, 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
Interleukin 6, serum level of, quantitative trait locus
Interstitial lung disease 2
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
Joubert syndrome 10
Juvenile myelomonocytic leukemia
Kabuki syndrome 1
Kabuki syndrome 2
Kartagener syndrome
Keratitis fugax hereditaria
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Kindler syndrome
Kostmann syndrome
Lazy leukocyte syndrome
Leukocyte adhesion deficiency 1
Leukocyte adhesion deficiency 3
Leukocyte adhesion deficiency type II
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome 2
Limb-mammary syndrome
Linear skin defects with multiple congenital anomalies 1
Linear skin defects with multiple congenital anomalies 3
Loeys-Dietz syndrome 1
Loeys-Dietz syndrome 2
Lowry-Wood syndrome
Lung cancer
Lung disease, immunodeficiency, and chromosome breakage syndrome;
Lymphoma, non-Hodgkin, familial
Lymphoproliferative syndrome 1
Lymphoproliferative syndrome 2
Lynch syndrome 1
Lynch syndrome 4
Lynch syndrome 5
Lynch syndrome 8
Lysinuric protein intolerance
Lysosomal acid lipase deficiency
MHC class I deficiency
MHC class II deficiency
MIRAGE syndrome
MOGS-congenital disorder of glycosylation
Macrocephaly-autism syndrome
Macroglobulinemia, Waldenstrom, 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Macrothrombocytopenia, isolated, 1, autosomal dominant
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Macular degeneration, X-linked atrophic
Majeed syndrome
Malaria, susceptibility to
Malignant tumor of esophagus
Malignant tumor of prostate
Mandibular hypoplasia-deafness-progeroid syndrome
Medulloblastoma
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Melanoma, cutaneous malignant, susceptibility to, 9
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Mesothelioma, malignant
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Mevalonic aciduria
Microcephaly, normal intelligence and immunodeficiency
Microvascular complications of diabetes, susceptibility to, 4
Mirror movements 2
Mismatch repair cancer syndrome 1
Mismatch repair cancer syndrome 2
Mismatch repair cancer syndrome 3
Mismatch repair cancer syndrome 4
Mitochondrial complex 1 deficiency, nuclear type 30
Monocytopenia with susceptibility to infections
Monosomy 7 myelodysplasia and leukemia syndrome 1
Monosomy 7 myelodysplasia and leukemia syndrome 2
Mucocutaneous ulceration, chronic
Mucosa-associated lymphoma
Muir-Torré syndrome
Multiple gastrointestinal atresias
Multiple myeloma
Multiple sclerosis, susceptibility to, 5
Multiple self-healing squamous epithelioma
Mycobacterium tuberculosis, susceptibility to
Myelodysplastic syndrome
Myocardial infarction, susceptibility to
Myopathy, lactic acidosis, and sideroblastic anemia 1
Myopathy, lactic acidosis, and sideroblastic anemia 2
Myopathy, tubular aggregate, 1
Myopathy, tubular aggregate, 2
Myopia 6
Nasopharyngeal carcinoma
Neonatal pseudo-hydrocephalic progeroid syndrome
Nephronophthisis 15
Nephrotic syndrome 14
Netherton syndrome
Neural tube defects, folate-sensitive
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Neutropenia, severe congenital, 1, autosomal dominant
Neutropenia, severe congenital, 2, autosomal dominant
Neutropenia, severe congenital, 8, autosomal dominant
Neutrophil immunodeficiency syndrome
Nonarteritic anterior ischemic optic neuropathy, susceptibility to
Nonimmune chronic idiopathic neutropenia of adults
Nonsyndromic congenital nail disorder 8
Normophosphatemic familial tumoral calcinosis
Orofacial cleft 8
Orofaciodigital syndrome I
Osteodysplastic primordial dwarfism, type 1
Otofaciocervical syndrome 2
PMM2-congenital disorder of glycosylation
Paget disease of bone 2, early-onset
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Palmoplantar keratoderma i, striate, focal, or diffuse
Pancreatic cancer, susceptibility to, 2
Pancreatic cancer, susceptibility to, 3
Pancreatic cancer, susceptibility to, 4
Pancreatic triacylglycerol lipase deficiency
Pancytopenia due to IKZF1 mutations
Pancytopenia-developmental delay syndrome
Papillon-Lefèvre syndrome
Parkinson disease 13, autosomal dominant, susceptibility to
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Periodontitis, aggressive 1
Perrault syndrome 4
Phosphate transport defect
Piebaldism
Pityriasis rubra pilaris
Plasminogen deficiency, type I
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Platelet-type bleeding disorder 11
Platelet-type bleeding disorder 15
Platelet-type bleeding disorder 16
Platelet-type bleeding disorder 18
Platelet-type bleeding disorder 8
Poikiloderma with neutropenia
Polyglandular autoimmune syndrome, type 1
Polyglucosan body myopathy type 1
Porokeratosis 3, disseminated superficial actinic type
Predisposition to invasive fungal disease due to CARD9 deficiency
Premature ovarian failure 15
Premature ovarian failure 17
Pretibial dystrophic epidermolysis bullosa
Primary CD59 deficiency
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 18
Primary ciliary dyskinesia 2
Primary ciliary dyskinesia 21
Primary ciliary dyskinesia 22
Primary ciliary dyskinesia 24
Primary ciliary dyskinesia 25
Primary ciliary dyskinesia 26
Primary ciliary dyskinesia 27
Primary ciliary dyskinesia 28
Primary ciliary dyskinesia 29
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia 32
Primary ciliary dyskinesia 33
Primary ciliary dyskinesia 34
Primary ciliary dyskinesia 6
Primary ciliary dyskinesia 7
Primary ciliary dyskinesia 9
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 immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Primary myelofibrosis
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Prolidase deficiency
Properdin deficiency, X-linked
Proteasome-associated autoinflammatory syndrome 1
Proteasome-associated autoinflammatory syndrome 2
Proteasome-associated autoinflammatory syndrome 3
Proteasome-associated autoinflammatory syndrome 4
Protein-losing enteropathy
Pseudo von Willebrand disease
Pseudo-TORCH syndrome 3
Psoriasis 13, susceptibility to
Psoriasis 2
Psoriasis 7, susceptibility to
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
Purine-nucleoside phosphorylase deficiency
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Pyogenic bacterial infections due to MyD88 deficiency
RIDDLE syndrome
Radial aplasia-thrombocytopenia syndrome
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Rapadilino syndrome
Rapp-Hodgkin syndrome
Recessive dystrophic epidermolysis bullosa
Recurrent Neisseria infections due to factor D deficiency
Respiratory papillomatosis, juvenile recurrent, congenital
Reticular dysgenesis
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa 23
Retinitis pigmentosa 3
Retinitis pigmentosa and erythrocytic microcytosis
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Revesz syndrome
Rheumatoid arthritis
Roifman syndrome
Rothmund-Thomson syndrome type 2
SCOTT SYNDROME
SHORT syndrome
STAT3-related early-onset multisystem autoimmune disease
Schimke immuno-osseous dysplasia
Seckel syndrome 1
Severe combined immunodeficiency due to CARD11 deficiency
Severe combined immunodeficiency due to CARMIL2 deficiency
Severe combined immunodeficiency due to CORO1A deficiency
Severe combined immunodeficiency due to CTPS1 deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency due to IKK2 deficiency
Severe combined immunodeficiency due to LAT deficiency
Severe combined immunodeficiency due to LCK 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 dermatitis-multiple allergies-metabolic wasting syndrome
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
Shwachman-Diamond syndrome 1
Shwachman-Diamond syndrome 2
Sideroblastic anemia 2
Sideroblastic anemia 3
Simpson-Golabi-Behmel syndrome type 2
Singleton-Merten syndrome 1
Singleton-Merten syndrome 2
Sitosterolemia 1
Sitosterolemia 2
Skin/hair/eye pigmentation, variation in, 8
Sneddon syndrome
Soluble interleukin-6 receptor, serum level of, quantitative trait locus
Spasticity-ataxia-gait anomalies syndrome
Specific granule deficiency 1
Specific granule deficiency 2
Spermatogenic failure 18
Spermatogenic failure 27
Spermatogenic failure 28
Spermatogenic failure 46
Spermatogenic failures 50
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Split hand-foot malformation 4
Sponastrime dysplasia
Spondyloenchondrodysplasia with immune dysregulation
Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia, Kimberley type
Sterile multifocal osteomyelitis with periostitis and pustulosis
Stormorken syndrome
Sucrase-isomaltase deficiency
Surfactant metabolism dysfunction, pulmonary, 4
Surfactant metabolism dysfunction, pulmonary, 5
Susceptibility to HIV infection
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Symmetrical dyschromatosis of extremities
Syndromic multisystem autoimmune disease due to ITCH deficiency
Systemic lupus erythematosus
Systemic lupus erythematosus, susceptibility to, 11
Systemic lupus erythematosus, susceptibility to, 9
T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
TFRC-related combined immunodeficiency
TNF receptor-associated periodic fever syndrome (TRAPS)
Tetralogy of Fallot
Thrombocythemia 1
Thrombocythemia 2
Thrombocythemia 3
Thrombocytopenia 1
Thrombocytopenia 2
Thrombocytopenia 4
Thrombocytopenia 5
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
Thrombomodulin-related bleeding disorder
Thyroid dyshormonogenesis 6
Transcobalamin II deficiency
Transient bullous dermolysis of the newborn
Trichohepatoenteric syndrome 1
Trichohepatoenteric syndrome 2
Trichothiodystrophy 1, photosensitive
Trichothiodystrophy 2, photosensitive
Trichothiodystrophy 3, photosensitive
Trichothiodystrophy 4, nonphotosensitive
Trichothiodystrophy 5, nonphotosensitive
Trichothiodystrophy 6, nonphotosensitive
Tumor predisposition syndrome 3
Type 1 diabetes mellitus 10
Type 1 diabetes mellitus 12
Type I complement component 8 deficiency
Type II complement component 8 deficiency
Upshaw-Schulman syndrome
VACTERL association, X-linked, with or without hydrocephalus
Van Maldergem syndrome 2
Vasculitis due to ADA2 deficiency
Velocardiofacial syndrome
Vibratory urticaria
Vici syndrome
Vitiligo-associated multiple autoimmune disease susceptibility 1
WHIM syndrome 1
Wiedemann-Steiner syndrome
Wilms tumor 1
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome 2
Wolcott-Rallison dysplasia
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 erythropoietic protoporphyria
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked intellectual disability, van Esch type
X-linked lymphoproliferative disease due to SH2D1A deficiency
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked reticulate pigmentary disorder
X-linked severe combined immunodeficiency
X-linked severe congenital neutropenia
X-linked sideroblastic anemia 1
XFE progeroid syndrome
Xeroderma pigmentosum group B
Xeroderma pigmentosum, group D
Xeroderma pigmentosum, group F
Yao syndrome
ABCB7 (Xq13.3);
ABCG5 (2p21);
ABCG8 (2p21);
ACAN (15q26.1);
ACD (16q22.1)
more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
The Invitae Inborn Errors of Immunity and Cytopenias Panel analyzes …
Ordering Information
Who can order: Help
Genetic Counselor
Health Care Provider
Licensed Physician
Physician Assistant
Test Order Code:
Help
08104
How to Order:
Help
Tests can be ordered online or by submitting a paper requisition form.
Order URL
Test service:
Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
Help
Test developed by laboratory (no manufacturer test name)
Informed consent required:
Help
Based on applicable state law
Test strategy:
Help
Full gene sequencing and deletion/duplication analysis of targeted gene
Pre-test genetic counseling required:
Help
No
Post-test genetic counseling required:
Help
No
Recommended fields not provided:
Lab contact for this test,
Contact policy
Conditions
Help
Total conditions: 754
Condition/Phenotype
Identifier
Test Targets
Genes
Help
Total genes: 562
Gene
Associated Condition
Germline or Somatic
Allele (Lab-provided)
Variant in NCBI
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Diagnosis;
Pre-symptomatic;
Therapeutic management
Target population:
Help
The Invitae Inborn Errors of Immunity and Cytopenias Panel analyzes genes that are associated with inherited disorders of the immune system including inherited causes of cytopenia such as bone marrow failure and hereditary lymphoma. These genes were selected based on the available evidence to date and comprise Invitae’s broadest test …
The Invitae Inborn Errors of Immunity and Cytopenias Panel analyzes genes that are associated with inherited disorders of the immune system including inherited causes of cytopenia such as bone marrow failure and hereditary lymphoma. These genes were selected based on the available evidence to date and comprise Invitae’s broadest test for inborn errors of immunity. This test contains genes associated with adult-onset hereditary cancer including, but not limited to, ATM, BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, KIT, MLH1, MSH2, MSH6, PALB2, PMS2, POLD1, POLE, POT1, PTEN, RAD51C, STK11, TERC, TERT, TMEM127, and TP53.
View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
Help
Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the …
Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the ordering clinician to evaluate our conclusions.
View more
Are family members with defined clinical status recruited to assess significance of VUS without charge?
Help
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
Help
Yes.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
Help
Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods
Availability:
Help
Tests performed
Entire test performed in-house
Analytical Validity:
Help
Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.
Assay limitations:
Help
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic …
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.
View more
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
No
Recommended fields not provided:
Test Confirmation,
Citations to support 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
Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
Help
Number:
8884
Status:
Approved
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.