Invitae Primary Immunodeficiency Panel
At a Glance
Diagnosis;
Pre-symptomatic;
Therapeutic management
Dyskeratosis congenita, autosomal dominant 6;
3-methylglutaconic aciduria type 8;
3-methylglutaconic aciduria type 9
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Dyskeratosis congenita, autosomal dominant 6
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
Acute febrile neutrophilic dermatosis
Acute lymphoid leukemia
Acute myeloid leukemia
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
Anauxetic dysplasia 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Aplastic anemia
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 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
Baraitser-Winter syndrome 1
Basal laminar drusen
Beta-thalassemia-X-linked thrombocytopenia syndrome
Bile acid malabsorption, primary, 1
Blau syndrome
Bloom syndrome
Bone marrow failure syndrome 3
Bone marrow failure syndrome 4
C1 inhibitor deficiency
C1Q deficiency
CBL-related disorder
CHARGE syndrome
COPD, severe early onset
Candidiasis, familial, 6
Candidiasis, familial, 8
Candidiasis, familial, 9
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
Chilblain lupus 1
Chilblain lupus 2
Cholestanol storage disease
Chronic infantile neurological, cutaneous and articular syndrome
Chylomicron retention disease
Chédiak-Higashi syndrome
Cohen syndrome
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 defect of folate absorption
Congenital diarrhea 6
Congenital diarrhea 7 with exudative enteropathy
Congenital disorder of glycosylation, type ICC
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
Cromer blood group system
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Cyclical neutropenia
Cystic fibrosis
DNA ligase IV deficiency
DOCK2 deficiency
Deafness-lymphedema-leukemia syndrome
Developmental malformations-deafness-dystonia syndrome
DiGeorge syndrome
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 recessive 1
Dyskeratosis congenita, autosomal recessive 2
Dyskeratosis congenita, autosomal recessive 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 6
Ectodermal dysplasia and immunodeficiency 2
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Eculizumab, poor response to
Ehlers-Danlos syndrome, periodontal type 2
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
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 expansile osteolysis
Familial hemophagocytic lymphohistiocytosis 2
Familial hemophagocytic lymphohistiocytosis 3
Familial hemophagocytic lymphohistiocytosis 4
Familial hemophagocytic lymphohistiocytosis 5
Familial isolated congenital asplenia
Familial visceral amyloidosis, Ostertag type
Fanconi anemia complementation group A
Fanconi anemia complementation group B
Fanconi anemia complementation group E
Fanconi anemia complementation group F
Fanconi anemia complementation group I
Fanconi anemia complementation group L
Fanconi anemia complementation group P
Fanconi anemia complementation group V
Fanconi anemia, complementation group W
Farber lipogranulomatosis
Fibrous dysplasia of jaw
Generalized dominant dystrophic epidermolysis bullosa
Generalized pustular psoriasis
Germ cell tumor of testis
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
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
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
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 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
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
Juvenile myelomonocytic leukemia
Kabuki syndrome 1
Kabuki syndrome 2
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
Limb-mammary syndrome
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
Lysinuric protein intolerance
Lysosomal acid lipase deficiency
MHC class I deficiency
MHC class II deficiency
MIRAGE syndrome
MOGS-congenital disorder of glycosylation
Macroglobulinemia, Waldenstrom, 1
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Majeed syndrome
Malaria, susceptibility to
Malignant tumor of esophagus
Mandibular hypoplasia-deafness-progeroid syndrome
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
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
Multiple gastrointestinal atresias
Multiple myeloma
Multiple sclerosis, susceptibility to, 5
Multiple self-healing squamous epithelioma
Mycobacterium tuberculosis, susceptibility to
Myelodysplastic syndrome
Myopathy, tubular aggregate, 1
Myopathy, tubular aggregate, 2
Myopia 6
Neonatal pseudo-hydrocephalic progeroid syndrome
Nephrotic syndrome 14
Netherton syndrome
Neural tube defects, folate-sensitive
Neutropenia, severe congenital, 1, autosomal dominant
Neutropenia, severe congenital, 2, autosomal dominant
Neutropenia, severe congenital, 8, autosomal dominant
Neutrophil immunodeficiency syndrome
Nonimmune chronic idiopathic neutropenia of adults
Nonsyndromic congenital nail disorder 8
Normophosphatemic familial tumoral calcinosis
Orofacial cleft 8
Osteodysplastic primordial dwarfism, type 1
Otofaciocervical syndrome 2
PMM2-congenital disorder of glycosylation
Paget disease of bone 2, early-onset
Palmoplantar keratoderma i, striate, focal, or diffuse
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
Phosphate transport defect
Pityriasis rubra pilaris
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
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
Pretibial dystrophic epidermolysis bullosa
Primary CD59 deficiency
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
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-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
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 and erythrocytic microcytosis
Revesz syndrome
Rheumatoid arthritis
Roifman syndrome
SHORT syndrome
STAT3-related early-onset multisystem autoimmune disease
Schimke immuno-osseous dysplasia
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-optic atrophy-Pelger-HuC+t anomaly syndrome
Shwachman-Diamond syndrome 1
Shwachman-Diamond syndrome 2
Singleton-Merten syndrome 1
Singleton-Merten syndrome 2
Skin/hair/eye pigmentation, variation in, 8
Sneddon syndrome
Soluble interleukin-6 receptor, serum level of, quantitative trait locus
Specific granule deficiency 1
Specific granule deficiency 2
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Split hand-foot malformation 4
Sponastrime dysplasia
Spondyloenchondrodysplasia with immune dysregulation
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
Thrombocytopenia 1
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
Type 1 diabetes mellitus 10
Type 1 diabetes mellitus 12
Type I complement component 8 deficiency
Type II complement component 8 deficiency
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
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 dyserythropoetic anemia with abnormal platelets and neutropenia
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
Xeroderma pigmentosum group B
Xeroderma pigmentosum, group D
Yao syndrome
ACD (16q22.1);
ACP5 (19p13.2);
ACTB (7p22.1);
ADA (20q13.12);
ADA2 (22q11.1)
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
The Invitae Primary Immunodeficiency Panel analyzes genes that are associated …
Ordering Information
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Genetic Counselor
Health Care Provider
Licensed Physician
Physician Assistant
Test Order Code:
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08100
How to Order:
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Tests can be ordered online or by submitting a paper requisition form.
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Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Test strategy:
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Full gene sequencing and deletion/duplication analysis of targeted gene
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Contact policy
Conditions
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Total conditions: 552
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 424
Gene
Associated Condition
Germline or Somatic
Allele (Lab-provided)
Variant in NCBI
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Pre-symptomatic;
Therapeutic management
Target population:
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The Invitae Primary Immunodeficiency Panel analyzes genes that are associated with inherited disorders of the immune system. These genes were selected based on the available evidence to date and comprise Invitae’s broadest test for primary immunodeficiencies (PIDs).
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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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.
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Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Will the lab re-contact the ordering physician if variant interpretation changes?
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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:
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Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods
Availability:
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Tests performed
Analytical Validity:
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Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.
Assay limitations:
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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.
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Proficiency testing (PT):
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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:
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Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
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Number:
8884
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NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
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