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

393 tests · Page 3 of 14

• Diamond-Blackfan anemia (RPS24 gene, NGS)

  Code 10382 · Next-generation sequencing (NGS)

  Genes: RPS24

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS26 gene, NGS)

  Code 10386 · Next-generation sequencing (NGS)

  Genes: RPS26

  Turnaround time: 33 working days

• DICER1 syndrome (pleuropulmonary blastoma) (DICER1 gene, NGS)

  Code 10060 · Next-generation sequencing (NGS)

  Genes: DICER1

  Turnaround time: 33 working days

• Diffuse gastric cancer (gene panel, NGS, CNVs)

  Code 3429 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 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

• DNA extraction, liquid biopsy 10 mL

  Code 4403 · Next-generation sequencing (NGS)

  Genes: Extração DNA Biópsia Líquida 10 ml

  Turnaround time: 30 working days

• DNA extraction, liquid biopsy 5 mL

  Code 4402 · Next-generation sequencing (NGS)

  Genes: Extração DNA Biópsia líquida 5 ml

  Turnaround time: 30 working days

• DNA extraction - liquid biopsy + RNA extraction - liquid biopsy

  Code 4407 · Next-generation sequencing (NGS)

  Genes: Extração DNA - Biópsia Líquida + RNA - Biópsia Líquida

  Turnaround time: 30 working days

• DNA extraction, tissue biopsy + DNA extraction, liquid biopsy

  Code 4406 · Next-generation sequencing (NGS)

  Genes: Extração DNA Biópsia Tissular + DNA Biópsia Líquida

  Turnaround time: 30 working days

• DNA extraction, tissue biopsy (FFPE)

  Code 4401 · Next-generation sequencing (NGS)

  Genes: Extração DNA Biópsia Tissular (FFPE)

  Turnaround time: 30 working days

• Dyskeratosis congenita (8-gene panel, NGS)

  Code 10698 · Next-generation sequencing (NGS)

  Genes: CTC1, DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53

  Turnaround time: 33 working days

• Dyskeratosis congenita (CTC1 gene, NGS)

  Code 10700 · Next-generation sequencing (NGS)

  Genes: CTC1

  Turnaround time: 33 working days

• Dyskeratosis congenita (DKC1 gene, NGS)

  Code 10701 · Next-generation sequencing (NGS)

  Genes: DKC1

  Turnaround time: 33 working days

• Dyskeratosis congenita (NHP2 gene, NGS)

  Code 10703 · Next-generation sequencing (NGS)

  Genes: NHP2

  Turnaround time: 33 working days

• Dyskeratosis congenita (NOP10 gene, NGS)

  Code 10704 · Next-generation sequencing (NGS)

  Genes: NOP10

  Turnaround time: 33 working days

• Dyskeratosis congenita (TERT gene, NGS)

  Code 10699 · Next-generation sequencing (NGS)

  Genes: TERT

  Turnaround time: 33 working days

• Dyskeratosis congenita (TINF2 gene, NGS)

  Code 10702 · Next-generation sequencing (NGS)

  Genes: TINF2

  Turnaround time: 33 working days

• Dyskeratosis congenita (WRAP53 gene, NGS)

  Code 10705 · Next-generation sequencing (NGS)

  Genes: WRAP53

  Turnaround time: 33 working days

• EGFR 29 mutations - liquid biopsy

  Code 4451 · Real-time PCR

  Genes: EGFR 29

  Turnaround time: 30 working days

• EGFR 29 mutations - tissue biopsy

  Code 4450 · Real-time PCR

  Genes: EGFR 29

  Turnaround time: 30 working days

• EGFR T790M - liquid biopsy

  Code 4453 · Real-time PCR

  Genes: EGFR, T790M

  Turnaround time: 30 working days

• EGFR T790M, liquid biopsy, dPCR

  Code 4464 · Digital PCR

  Genes: EGFR, T790M

  Turnaround time: 30 working days

• EGFR T790M - tissue biopsy

  Code 4452 · Real-time PCR

  Genes: EGFR, T790M

  Turnaround time: 30 working days

• Emberger syndrome (GATA2 gene, NGS)

  Code 10823 · Next-generation sequencing (NGS)

  Genes: GATA2

  Turnaround time: 33 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

• Epidermodysplasia verruciformis (TMC6 gene, NGS)

  Code 10860 · Next-generation sequencing (NGS)

  Genes: TMC6

  Turnaround time: 33 working days

• Epidermodysplasia verruciformis (TMC8 gene, NGS)

  Code 10859 · Next-generation sequencing (NGS)

  Genes: TMC8

  Turnaround time: 33 working days

• Expanded cancer predisposition, multiple types (150-gene panel, NGS)

  Code 10164 · Next-generation sequencing (NGS)

  Genes: AIP, ALK, ANKRD26, APC, ATM, ATR, AXIN2, BAP1 and 142 more

  Turnaround time: 33 working days

• Expanded cancer predisposition (WES-based panel, NGS, CNVs)

  Code 3454 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days