– NGS Panels
| Primary Antibody Deficiencies (PAD) panels - Defects of Adaptive Immunity | Info | Request form | Consent form |
|---|---|---|---|
| Primary Antibody Deficiencies (PAD) panel - 41 genes | Download | Download | |
| Common Variable Immunodeficiency (CVID) panel - 25 genes | Download | Download | |
| Agamma-globulinemia panel - 10 genes | Download | Download | |
| Hyper-IgM Syndrome (HIGM) panel - 8 genes | Download | Download |
| Combined Immunodeficiencies (CID) panels - Defects of Adaptive Immunity | Info | Request form | Consent form |
|---|---|---|---|
| Combined Immunodeficiencies (CID) panel - 37 genes | Download | Download | |
| Bare Lymphocyte Syndrome (BLS) panel - 13 genes | Download | Download | |
| Severe Combined Immunodeficiency (SCID) panel - 19 genes | Download | Download | |
| Severe Combined Immunodeficiency [T-B+] panel - 11 genes | Download | Download | |
| Severe Combined Immunodeficiency [T-B-] panel - 8 genes | Download | Download |
| Syndromes with Combined Immunodeficiency panels - Defects of Adaptive Immunity | Info | Request form | Consent form |
|---|---|---|---|
| Syndromes with Combined Immunodeficiency panels - 74 genes | Download | Download | |
| Dyskeratosis Congenita (DKC) - 16 genes | Download | Download | |
| Hyper-IgE Syndrome (HIES) panel - 14 genes | Download | Download | |
| Ataxia- Telangiectasia (AT) panel - 1 gen | Download | Download |
| Defects in Intrinsic & Innate Immunity panels - Defects of Innate Immunity | Info | Request form | Consent form |
|---|---|---|---|
| Defects in Intrinsic & Innate Immunity panel - 67 genes | Download | Download | |
| Viral Infections, Predisposition - 21 genes | Download | Download | |
| Mendelian Susceptibility to Mycobacterial Disease (MSMD) panel - 17 genes | Download | Download | |
| Fungal Infections, Predisposition panel - 15 genes | Download | Download | |
| Invasive Bacterial Infections, Predisposition panel - 6 genes | Download | Download | |
| Cystic Fibrosis (CF) panel - 1 gene | Download | Download |
| Phagocyte Defects, Congenital panels - Defects of Innate Immunity | Info | Request form | Consent form |
|---|---|---|---|
| Phagocyte Defects, Congenital panel - 44 genes | Download | Download | |
| Neutropenia, Syndromic panel - 21 genes | Download | Download | |
| Neutropenia, Non-Syndromic - 7 genes | Download | Download | |
| Chronic Granulomatous Disease (CGD) panel - 6 genes | Download | Download |
| Complement System Deficiencies panels - Defects of Innate Immunity | Info | Request form | Consent form |
|---|---|---|---|
| Complement System Deficiencies panel - 38 genes | Download | Download | |
| Atypical Haemolytic Uremic Syndrome (aHUS) panel - 13 genes | Download | Download | |
| Disseminated Neisserial Infections panel - 9 genes | Download | Download | |
| Systemic Lupus Erythematous (SLE)-like Syndrome panel - 8 genes | Download | Download | |
| Pyogenic Infections, Recurrent panel - 6 genes | Download | Download | |
| Hereditary Angioedema (HAE) panel - 2 genes | Download | Download |
| Autoimmune Diseases panels | Info | Request form | Consent form |
|---|---|---|---|
| Autoimmune Diseases (AD) panel - 156 genes | Download | Download | |
| Systemic Lupus Erythematous (SLE) panel - 69 genes | Download | Download | |
| Autoimmune Nephropathy (AN) panel - 52 genes | Download | Download | |
| Autoimmune Lymphoproliferative Syndrome (ALPS) panel - 21 genes | Download | Download | |
| Autoimmune Lymphoproliferative Syndrome (ALPS) panel - 18 genes | Download | Download | |
| Autoimmune Enteropathy panel - 18 genes | Download | Download | |
| Autoimmune Polyendocrinopathy panel - 13 genes | Download | Download |
| Autoinflammatory Diseases Panels | Info | Request form | Consent form |
|---|---|---|---|
| Autoinflammatory Diseases (AID) panel - 145 genes | Download | Download | |
| Behçet's Disease (BD) panel - 27 genes | Download | Download | |
| Inflammatory Bowel Disease (IBD) panel - 26 genes | Download | Download | |
| Autoinflammatory Diseases with Recurrent Fever panel - 12 genes | Download | Download | |
| Aicardi-Goutières Syndrome (AGS) panel - 7 genes | Download | Download |
– Other techniques
TAT [turnaround time]: 2 weeks
NGS sequencing of a single gene (included in our panels). For other genes, please contact us. TAT [turnaround time]: 2 weeks
Interpretation of a single variant. Additional variant (per unit). TAT [turnaround time]: 2 weeks
TAT [turnaround time]: 6 weeks
TAT [turnaround time]: 2-5 weeks
STEPS TO FOLLOW
Download & fill out
Please cover as many fields as possible in both documents
Sample collection
3 sample types: saliva, peripheral blood or genomic DNA
Pack the sample
Please pack the sample in a way to prevent leakage
Send the sample & the request
Please schedule the delivery for Mon–Thur: 8am – 5pm
Edificio O Fortín, As Xubias s/n. C.P.15006. A Coruña. Spain
Result: the report
Via HIC Client Portal / Certified email
PERIPHERAL BLOOD
(3 to 5 ml in EDTA tubes)
GENOMIC DNA
NGS > 5-10µg | SANGER > 1µg. (A260/280 = 1.8-1.9)
SALIVA
Order our kit
(*) For delivery in over 48 h, controlled-temperature shipment (4-8 ºC) is recommended
SAMPLE PACKAGING: The sample collection tube must be placed inside a secondary package of the appropriate size for the number of samples shipped. Sufficient absorbent material should be included to absorb all the contents of the primary recipient in case of leakage.
Both containers will preferably be placed inside a rigid box for blood and tissue samples.