Pneumology
Sequencing Panels
Turnaround time (TAT): 5 weeks
- Susceptibility to respiratory infections comprehensive panel [350 genes]
- Susceptibility to respiratory infections panel [51 genes]
- Cystic fibrosis basic panel [1 gene]
- Cystic fibrosis extended panel [8 genes]
- Bronchiectasis (BC) panel [48 genes]
- Primary ciliary dyskinesia (PCD) specific panel [43 genes]
- Primary immunodeficiency (PID) panel [301 genes]
- Cystic lung diseases comprehensive panel [10 genes]
- Alpha-1 antitrypsin deficiency (A1AD) specific panel [1 gene]
- Interstitial lung disease and surfactant dysfunction comprehensive panel [68 genes]
- Idiopathic pulmonary fibrosis and familial pulmonary fibrosis (IPF-FPF) panel [23 genes]
- Hermansky-Pudlak syndrome (SHP) panel [21 genes]
- Alveolar proteinosis (AP) panel [9 genes]
- Childhood and infant interstitial lung disease panel [21 genes]
- Infant respiratory distress syndrome (IRDS) panel [15 genes]
- Dyskeratosis congenita (DC) panel [16 genes]
- Pulmonary artery hypertension (PAH) panel [25 genes]
- Respiratory diseases that have a genetic basis [427 genes]
Other services
Exome sequencing
Check all the exomes that we offer:
See all exomes
Variant segregation / Family studies
TAT (turnaround time): 2 weeks
Sanger sequencing studies on carriers of variants that have been previously described in the family.
Gene sequencing
TAT (turnaround time): 35 days
Individual gene sequencing and interpretation service. Depending on its size and on the regions of interest, we can offer an approach based on Sanger sequencing or on NGS (enrichment using amplicons or hybridization probes). The NGS-based approach allows detecting copy number variations (CNVs).
Check all the exomes that we offer:
See all exomesTAT (turnaround time): 2 weeks
Sanger sequencing studies on carriers of variants that have been previously described in the family.
TAT (turnaround time): 35 days
Individual gene sequencing and interpretation service. Depending on its size and on the regions of interest, we can offer an approach based on Sanger sequencing or on NGS (enrichment using amplicons or hybridization probes). The NGS-based approach allows detecting copy number variations (CNVs).
Steps to follow
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
Please pack the sample in a way to prevent leakage
4. Send the sample & the request
Please schedule the delivery for Mon–Thur: 8am – 5pm
5. Result: the report
Via: Client Site HIC / Client Site Imegen / Certified email
