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Pharmacogenetics

Sequencing panels

  • Pharmacogenetics global panel [32 genes]    (all clinical areas included)

    Ref.: S-202212590|Turnaround time (TAT) 25 days

  • Pharmacogenetics service for a clinical area (single clinical area)

    Ref.: S-202212575|Turnaround time (TAT) 25 days

    • Central nervous system
    • Digestive system and metabolism
    • Analgesics, anesthetics and musculoskeletal system
    • Cardiovascular system
    • Immunosuppressive agents
    • Antineoplastic agents
    • Anti-infective agents
    • Genitourinary system and sex hormones
  • Clozapine Pharmacogenetics [10 genes]

    Ref.: S-202110203|Turnaround time (TAT) 10 days

  • Pharmacogenetics of lipid-lowering agents [6 genes]

    Ref.: S-201907369|Turnaround time (TAT) 25 days

  • Dihydropyrimidine dehydrogenase deficiency (5-fluorouracil toxicity). Sequencing of DPYD gene
    [1 gene]

    Ref.: S-202212057|Turnaround time (TAT) 25 days

Genotyping services

  • Pharmacogenetics DPYD genotyping 4 variants

    Ref.: S-202110029|Turnaround time (TAT) 5 days

  • Pharmacogenetics CYP2C9 genotyping 2 variants

    Ref.: S-202110395|Turnaround time (TAT) 10 days

  • Pharmacogenetics CYP2C19 genotyping by qPCR 4 variants

    Ref.: S-202313820|Turnaround time (TAT) 10 days

  • Pharmacogenetics TYMS genotyping 1 variant

    Ref.: S-202110298|Turnaround time (TAT) 10 days

  • Pharmacogenetics UGT1A1 genotyping (Sanger)

    Ref.: S-202210996|Turnaround time (TAT) 10 days

  • Pharmacogenetics UGT1A1 genotyping (Expansions)

    Ref.: S-202212834|Turnaround time (TAT) 10 days

Other services

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).

TAT (turnaround time): 35 days

Semiquantitative technique that is widely applied in molecular genetic laboratories and that allows diagnosing pathologies caused by copy number variations and, in some cases, by alterations in DNA methylation. A wide variety of commercial kits are available to test individual genes, gene panels related to specific pathologies, or large chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on MRC-Holland kits.

Luis Ramudo

Head of the area of Pharmacogenetics

Informed consent form Steps to follow Need counseling?
Steps to follow
Click here to see the Guidelines for the collection and transport of biological samples

1) Download & fill out

Please cover as many fields as possible in both documents

2) Sample collection

See sample types in the guidelines

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4) Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5) Result: the report

Via: e-mail and/or through the customer portal

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Pharmacogenetics Global – 32 genes

ABCC3, ABCG2, CACNA1S, CALU, COMT, CYP1A2, CYP2B6, CYP2C18, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, F5, G6PD, GGCX, HLA-A, HLA-B, IFNL4, NAT1, NAT2, NUDT15, RARG, RYR1, SLC28A3, SLCO1B1, TPMT, UGT1A1, UGT1A6, VKORC1

Clozapine Pharmacogenetics – 10 genes

ACKR1, CYP1A2, CYP3A4, CYP3A5, HLA-B, HLA-DQB1, HTR2A, HTR3A, NFIB, SLCO1B3

Pharmacogenetics of lipid-lowering agents – 6 genes

ABCG2, CYP2C9, SLCO1B1, CYP2D6, CYP3A4, CYP3A5

Dihydropyrimidine dehydrogenase deficiency (5-fluorouracil toxicity). Sequencing of DPYD gene – 1 gene

DPYD

Central nervous system
  • Atypical antidepressants and other antidepressants: vortioxetine.
  • Serotonin–norepinephrine reuptake inhibitors (SNRIs): venlafaxine.
  • Non-selective monoamine reuptake inhibitors or tricyclic antidepressants (TCAs): amitriptyline, amoxapine, clomipramine, desipramine, doxepin, imipramine, nortriptyline, protriptyline, trimipramine.
  • Selective serotonin reuptake inhibitors (SSRIs): citalopram, escitalopram, fluvoxamine, paroxetine, sertraline.
  • Antiepileptics: brivaracetam, carbamazepine, phenytoin, fosphenytoi, oxcarbazepine.
  • First-generation antipsychotics (FGA): haloperidol, perphenazine, pimozide, thioridazine, zuclopenthixol.
  • Second-generation antipsychotics (SGA): aripiprazole, brexpiprazole, clozapine, iloperidone, risperidone.
  • Benzodiazepines: clobazam, diazepam.
  • Drugs indicated for dementias (cholinesterase inhibitors): donepezil, galantamine.
  • Drugs indicated for ADHD: atomoxetine.
  • Drugs indicated for chorea and similar movement disorders: deutetrabenazine, tetrabenazine, valbenazine.
  • Drugs indicated for mucosal dryness: cevimeline.
  • Drugs indicated in opioid dependence: lofexidine.
  • Drugs indicated in Schwannomas: amifampridine.
Digestive system and metabolism
  • Antiemetics: dronabinol, meclizine, metoclopramide, ondansetron, tropisetron.
  • Intestinal anti-inflammatories: sulfasalazine.
  • Drugs for Gaucher disease treatment: eliglustat.
  • Gastric protectors (proton pump inhibitors): dexlansoprazole, esomeprazole, lansoprazole, omeprazole, pantoprazole, rabeprazole.
Analgesics, anesthetics and musculoskeletal system
  • Opioid analgesics: codeine, hydrocodone, tramadol.
  • General anesthetics: desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane.
  • Antigout: allopurinol, rasburicase.
  • Nonsteroidal anti-inflamatory drugs (NSAIDs): celecoxib, flurbiprofen, ibuprofen, lornoxicam, meloxicam, piroxicam, tenoxicam.
  • Peripheral acting musculoskeletal relaxants: succinylcholine.
  • Centrally acting musculoskeletal relaxants: carisoprodol.
Cardiovascular system
  • Antiplatelet agents: clopidogrel.
  • Antiarrhythmics: flecainide, procainamide, propafenone.
  • Oral anticoagulants: acenocumarol, phenprocoumon, warfarin.
  • Antihypertensives: hydralazine.
  • Betablockers: carvedilol, metoprolol, nebivolol, propranolol.
  • Hemostatic agents: avatrombopag.
  • Hypolipidemic agents: atorvastatin, rosuvastatin, simvastatin, fluvastatin.
Immunosuppressive agents
  • Calcineurin inhibitors: tacrolimus.
  • Thiopurines: azathioprine, mercaptopurine, thioguanine.
  • Drugs indicated for multiple sclerosis: siponimod.
Antineoplastic agents
  • Anthracyclines: daunorrubicin, doxorrubicin.
  • Fluoropyrimidines: capecitabine, flucytosine, fluorouracil, tegafur.
  • Histone deacetylase inhibitors: belinostat.
  • Tyrosine kinase inhibitors: erdafitinib, gefitinib, lapatinib, nilotinib, pazopanib.
  • Topoisomerase inhibitors: irinotecan.
  • Platins: crisplatin.
  • Hormonal therapy: tamoxifen.
Anti-infective agents
  • Antifungal agents: voriconazole.
  • Antiviral agents-HIV: abacavir, atazanavir, dolutegravir, efavirenz, raltegravir.
  • Antibacterials: cotrimoxazole, flucloxacilin.
  • Antimycobacterials: isoniazide.
Genitourinary system and sex hormones
  • Oral contraceptives: systemic hormonal contraceptives with estrogens.
  • Urinary antispasmodics: darifenacin, fesoterodine, mirabegron.
  • Benign prostatic hyperplasia: tamsulosin, tolterodine.
  • GnRH antagonists: elagolix.
  • Drugs indicated for sexual problems: flibanserine.