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FIND THE STUDY

Choose the most appropriate genetic test for your patient and download the corresponding documents

– NGS Panels

Respiratory infections

Respiratory infections NGS panels info requestrequest consentconsent
Respiratory infections comprehensive panel [51 genes]
Cystic fibrosis (CF) basic & extended panels [1 / 8 genes]
Bronchiectasis panel (BC) [48 genes]
Specific primary ciliary dyskinesia panel (PCD) [43 genes]
Primary immunodeficiency panel(PID) [301 genes]

Cystic lung diseases

Cystic lung diseases NGS panels info requestrequest consentconsent
Cystic lung diseases comprehensive panel [10 genes]
Alpha-1 antitrypsin deficiency specific panel [1 gene]

Interstitial lung disease

INTERSTITIAL LUNG DISEASE NGS panels info requestrequest consentconsent
Interstitial lung disease and surfactant dysfunction comprehensive panel [68 genes]
Idiopathic pulmonary fibrosis and familial pulmonary fibrosis panel [23 genes]
Hermansky-Pudlak syndrome panel [21 genes]
Alveolar proteinosis panel [9 genes]
Childhood and infant interstitial lung disease panel [21 genes]
Infant respiratory distress syndrome panel (IRDS) [15 genes]
Dyskeratosis congenita panel (DC) [16 genes]

Pulmonary arterial hypertension

PULMONARY ARTERY HYPERTENSION NGS panels info requestrequest consentconsent
Pulmonary arterial hypertension panel [25 genes]

Respiratory failure associated with neurologic disorders

RESPIRATORY FAILURE ASSOCIATED WITH NEUROPATHY NGS panels info requestrequest consentconsent
Genetic muscle disorders comprehensive panel [264 genes]
Hereditary neuropathy comprehensive panel [107 genes]

– Other techniques

FAMILIAR STUDY: study requisition form

TAT [turnaround time]: 2 weeks

MLPA: study requisition form

TAT [turnaround time]: 6 weeks (to request a quote, please send us an email specifying the required gene or kit)

SINGLE-GENE SEQUENCING: study requisition form

TAT [turnaround time]: 2 weeks (NGS sequencing of one gene included in our panels)

WHOLE-GENOME MICROARRAY: study requisition form

TAT [turnaround time]: 5 weeks

EXOME: study requisition form

TAT [turnaround time]: 2-5 weeks (turnaround time will depend on the selected type of exome analysis)

WHOLE MITOCHONDRIAL DNA SEQUENCING: study requisition form

TAT [turnaround time]: 5 weeks

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STEPS TO FOLLOW

How to order

DOWNLOAD & FILL OUT
Please cover as many fields as possible in both documents

SAMPLE COLLECTION
3 sample types: saliva, peripheral blood or genomic DNA

SAMPLE PACKAGING
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

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.