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 1 of 14

• 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

• Alagille syndrome type 1 (JAG1 gene, NGS)

  Code 10190 · Next-generation sequencing (NGS)

  Genes: JAG1

  Turnaround time: 33 working days

• Alagille syndrome types 1 and 2 (2-gene panel, NGS)

  Code 10192 · Next-generation sequencing (NGS)

  Genes: JAG1, NOTCH2

  Turnaround time: 33 working days

• AML1/ETO rearrangement testing [t(8;21)]

  Code 3064 · Molecular biology

  Genes: Rearranjo AML1/ETO t(8;21)

  Turnaround time: 48 working days

• Androgen receptor splice variant AR_V7

  Code 4465 · Real-time PCR

  Genes: AR_V7

  Turnaround time: 30 working days

• APC gene testing (NGS, MLPA)

  Code 3386 · Next-generation sequencing (NGS) + MLPA

  Genes: APC

  Turnaround time: 30 working days

• Ataxia-telangiectasia (ATM gene, NGS)

  Code 10319 · Next-generation sequencing (NGS)

  Genes: ATM

  Turnaround time: 33 working days

• Ataxia-telangiectasia-like disorder (MRE11A gene, NGS)

  Code 10320 · Next-generation sequencing (NGS)

  Genes: MRE11A

  Turnaround time: 33 working days

• Avantect [early detection of pancreatic cancer]

  Code 3480 · Next-generation sequencing (NGS)

  Turnaround time: 30 working days

• B-cell clonality – IgH

  Code 3199 · PCR

  Genes: IgH

  Turnaround time: 17 working days

• BCR/ABL t(9;22) (p190) quantification (PCR)

  Code 3080 · Molecular hybridization / PCR

  Genes: BCR/ABL t (9;22) (p190)

  Turnaround time: 24 working days

• BCR/ABL t(9;22) (p210) quantification (PCR)

  Code 3081 · Molecular hybridization / PCR

  Genes: BCR/ABL t (9;22) (p210)

  Turnaround time: 24 working days

• Beckwith-Wiedemann syndrome (CDKN1C gene, NGS)

  Code 10370 · Next-generation sequencing (NGS)

  Genes: CDKN1C

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome, c.1285delC and c.1285dupC mutations, FLCN gene

  Code 10376 · Next-generation sequencing (NGS)

  Genes: FLCN

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (c.1285 mutation)

  Code 3143 · Sequencing

  Genes: FLCN

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (familial variant)

  Code 3144 · Sequencing

  Genes: FLCN

  Turnaround time: 24 working days

• Birt-Hogg-Dubé syndrome (FLCN gene, 14 exons, sequencing)

  Code 3299 · Sanger sequencing

  Genes: FLCN, 14 exões

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (FLCN gene, NGS)

  Code 10377 · Next-generation sequencing (NGS)

  Genes: FLCN

  Turnaround time: 33 working days

• Bloom syndrome (BLM gene, NGS)

  Code 10389 · Next-generation sequencing (NGS)

  Genes: BLM

  Turnaround time: 33 working days

• Bone and soft tissue cancer (sarcoma and osteosarcoma) (25-gene panel, NGS)

  Code 10161 · Next-generation sequencing (NGS)

  Genes: APC, BLM, CDKN1C, DICER1, EPCAM, FH, FN1, HRAS and 17 more

  Turnaround time: 33 working days

• BRAF gene mutation analysis

  Code 3072 · PCR

  Genes: BRAF

  Turnaround time: 13 working days

• BRAF V600 - liquid biopsy

  Code 4459 · Real-time PCR

  Genes: BRAF, V600

  Turnaround time: 30 working days

• BRAF V600 - tissue biopsy

  Code 4458 · Real-time PCR

  Genes: BRAF, V600

  Turnaround time: 30 working days

• BRCA1/2 panel, liquid biopsy

  Code 4429 · Next-generation sequencing (NGS)

  Genes: BRCA1, BRCA2

  Turnaround time: 15 working days

• BRCA1/2 panel, tissue biopsy

  Code 4428 · Next-generation sequencing (NGS)

  Genes: BRCA1, BRCA2

  Turnaround time: 15 working days

• BRCA1/2 tumor testing (AZ)

  Code 4951 · NGS / MLPA / PCR

  Genes: BRCA1, BRCA2

  Turnaround time: 15 working days

• BRCAness panel - DNA repair, liquid biopsy

  Code 4425 · Next-generation sequencing (NGS)

  Genes: BRCA1, BRCA2, ATM, PALB2

  Turnaround time: 15 working days

• BRCAness panel - DNA repair, tissue biopsy

  Code 4424 · Next-generation sequencing (NGS)

  Genes: BRCA1, BRCA2, ATM, PALB2

  Turnaround time: 15 working days

• Breast and ovarian cancer (18-gene panel, NGS)

  Code 3331 · NGS, Sanger sequencing, MLPA

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days