Test catalogue

Genetic tests available for sample collection at our units. Search by test name or gene, and filter by specialty.

This list is indicative: the availability and turnaround time of each test should be confirmed with the unit before collection. Results should always be interpreted by your doctor.

Results

24 tests

• 5-Fluorouracil toxicity (DPYD gene, sequencing)

  Code 3334 · Next-generation sequencing (NGS)

  Genes: DPYD

  Turnaround time: 33 working days

• 5-Fluorouracil toxicity, IVS14+1 G>A mutation (DPYD gene, sequencing)

  Code 3330 · Sanger sequencing

  Genes: Mutação IVS14+1 G>A gene DPYD

  Turnaround time: 33 working days

• Apo A full gene sequencing

  Code 3127 · PCR / Sequencing

  Genes: APOA/LPA

  Turnaround time: 33 working days

• ApoB gene mutation testing (3 mutations)

  Code 3128 · Sanger sequencing

  Genes: APOB

  Turnaround time: 28 working days

• Clinical exome reanalysis (sequencing)

  Code 3367 · Next-generation sequencing (NGS)

  Turnaround time: 78 working days

• Clopidogrel pharmacogenetics (CYP2C19 gene)

  Code 3180 · Sequencing

  Genes: CYP2C19

  Turnaround time: 33 working days

• Dihydropyrimidine dehydrogenase deficiency, DPYD gene mutation

  Code 3185 · PCR

  Genes: DPYD

  Turnaround time: 13 working days

• DNA extraction

  Code 3289 · Extraction

  Genes: Extração de DNA

  Turnaround time: 3 working days

• EndoPredict - Myriad

  Code 4700 · Real-time PCR

  Genes: Assinatura genómica de 2ª geração que combina o estudo dos genes com maior poder prognóstico [8 genes (UBE2C, BIRC5, DHCR7 – genes relacionados com prolifera…

  Turnaround time: 30 working days

• Exome, complete sequencing

  Code 3208 · Next-generation sequencing (NGS)

  Genes: Exoma

  Turnaround time: 75 working days

• Exome without interpretation (data only), NGS

  Code 3326 · Next-generation sequencing (NGS)

  Genes: Exoma sem análise

  Turnaround time: 33 working days

• Factor V Leiden gene mutation (1691G>A mutation)

  Code 908 · PCR

  Genes: F5

  Turnaround time: 8 working days

• Genetic testing for prothrombotic risk factors [EGFRP]

  Code 3015 · PCR

  Genes: Factor V de Leiden, Mutação G20210A no gene F2 Mutação C677T no gene MTHFR Mutação A1298C no gene MTHFR Alelos 4G/5G no gene PAI1

  Turnaround time: 10 working days

• Hereditary breast and ovarian cancer (gene panel, NGS), tissue biopsy

  Code 3348 · Next-generation sequencing (NGS)

  Genes: BRCA1, BRCA2, ATM, P53, MLH1, PMS2

  Turnaround time: 30 working days

• Interleukin 28B (IL28B) [Genotype]

  Code 2227 · Molecular hybridization / PCR

  Genes: IL28B

  Turnaround time: 10 working days

• MTHFR gene [1298 A-->C mutation] (PCR)

  Code 1911 · Real-time PCR

  Genes: MTHFR

  Turnaround time: 12 working days

• MTHFR gene [677 C-->T mutation] (PCR)

  Code 1011 · PCR

  Genes: MTHFR

  Turnaround time: 8 working days

• MyPharmaGenes

  Code 3357 · DNA microchip

  Genes: > 100 fármacos avaliados > 30 genes analisados 88 variantes + CYP2D6 CNVs

  Turnaround time: 15 working days

• MyPharmaGenes Brain

  Code 3403 · DNA microchip

  Turnaround time: 15 working days

• Oncology panel (157-gene panel, NGS)

  Code 3310 · Next-generation sequencing (NGS)

  Genes: AIP, AKT1, ALK, APC, ATM, ATR, AXIN2, BAP1 and 149 more

  Turnaround time: 33 working days

• Pharmacogenetics of coumarin anticoagulants (CYP2C9 and VKORC1 genes)

  Code 3350 · Real-time PCR

  Genes: CYP2C9, VKORC1

  Turnaround time: 33 working days

• Prothrombin gene mutation R 20210

  Code 3003 · PCR

  Genes: F2

  Turnaround time: 8 working days

• Trio exome (NGS)

  Code 3290 · Next-generation sequencing (NGS)

  Genes: Exoma Trio (NGS)

  Turnaround time: 33 working days

• Zinc transporter protein mutation

  Code 3041 · Cytogenetic analysis

  Genes: SLC30A2

  Turnaround time: 100 working days