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 11 of 14

• Neurofibromatosis-like syndromes (8-gene panel, NGS)

  Code 11165 · Next-generation sequencing (NGS)

  Genes: KIT, KITLG, NF1, NF2, PTPN11, RAF1, SMARCB1, SPRED1

  Turnaround time: 33 working days

• Neurofibromatosis type 1, MLPA (NF1 gene)

  Code 3207 · MLPA

  Genes: NF1

  Turnaround time: 33 working days

• Neurofibromatosis type 1 (point mutation) [Amniotic fluid]

  Code 3147 · Sequencing

  Genes: NF1

  Turnaround time: 30 working days

• Neurofibromatosis type 1, sequencing (NF1 gene)

  Code 3206 · Next-generation sequencing (NGS)

  Genes: NF1

  Turnaround time: 33 working days

• Neurofibromatosis type 2, MLPA (NF2 gene)

  Code 3163 · MLPA

  Genes: NF2

  Turnaround time: 93 working days

• Neurofibromatosis type 2, sequencing (NF2 gene)

  Code 3153 · PCR / Sequencing

  Genes: NF2

  Turnaround time: 93 working days

• Nijmegen breakage syndrome (NBN gene, NGS)

  Code 11181 · Next-generation sequencing (NGS)

  Genes: NBN

  Turnaround time: 33 working days

• Noonan-like syndrome with loose anagen hair (SHOC2 gene, NGS)

  Code 11192 · Next-generation sequencing (NGS)

  Genes: SHOC2

  Turnaround time: 33 working days

• Noonan-like syndrome with or without juvenile myelomonocytic leukemia (CBL gene, NGS)

  Code 11193 · Next-generation sequencing (NGS)

  Genes: CBL

  Turnaround time: 33 working days

• NRAS 16 mutations (codons 12, 13, 59, 61, 117, 146) - liquid biopsy

  Code 4457 · Real-time PCR

  Genes: NRAS 16 mutações

  Turnaround time: 30 working days

• NRAS 16 mutations (codons 12, 13, 59, 61, 117, 146) - tissue biopsy

  Code 4456 · Real-time PCR

  Genes: NRAS 16 mutações

  Turnaround time: 30 working days

• NTRK1/2/3 gene fusions, tissue biopsy

  Code 3381 · Next-generation sequencing (NGS)

  Genes: NTRK 1/ 2/ 3

  Turnaround time: 30 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

• Oncotype DX

  Code 3407 · Next-generation sequencing (NGS) + CNVs

  Turnaround time: 15 working days

• Ovarian cancer (gene panel, NGS) [somatic]

  Code 3498 · NGS, Sanger sequencing, MLPA

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• PAI-1 gene mutations

  Code 3029 · Sequencing

  Genes: PAI1

  Turnaround time: 33 working days

• PDGFR-beta mutation analysis

  Code 3214 · Fluorescence in situ hybridization (FISH)

  Genes: PDGFR-Beta

  Turnaround time: 10 working days

• PDGFR-beta mutation analysis (bone marrow)

  Code 3082 · Fluorescence in situ hybridization (FISH)

  Genes: PDGFR-Beta

  Turnaround time: 10 working days

• Peutz-Jeghers syndrome - STK11 gene

  Code 4010 · NGS, Sanger sequencing, MLPA

  Genes: STK11

  Turnaround time: 30 working days

• Peutz-Jeghers syndrome (STK11 gene, NGS)

  Code 11288 · Next-generation sequencing (NGS)

  Genes: STK11

  Turnaround time: 33 working days

• Peutz-Jeghers syndrome (STK11 gene, NGS, CNVs)

  Code 3434 · Next-generation sequencing (NGS) + CNVs

  Genes: STK11

  Turnaround time: 30 working days

• Pharmacogenetics of coumarin anticoagulants (CYP2C9 and VKORC1 genes)

  Code 3350 · Real-time PCR

  Genes: CYP2C9, VKORC1

  Turnaround time: 33 working days

• Pheochromocytoma and paraganglioma (gene panel, NGS, CNVs)

  Code 3391 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Piebaldism (KIT gene, NGS)

  Code 11291 · Next-generation sequencing (NGS)

  Genes: KIT

  Turnaround time: 33 working days

• PIK3CA - 5 mutations - liquid biopsy

  Code 4461 · Real-time PCR

  Genes: PIK3CA

  Turnaround time: 30 working days

• PIK3CA - 5 mutations - tissue biopsy

  Code 4460 · Real-time PCR

  Genes: PIK3CA

  Turnaround time: 30 working days

• PIK3CA somatic panel, liquid biopsy

  Code 4436 · Real-time PCR

  Genes: PIK3CA

  Turnaround time: 30 working days

• PIK3CA somatic panel, tissue biopsy

  Code 4435 · Next-generation sequencing (NGS)

  Genes: hotspots mutacionais de KRAS, NRAS, BRAF, PIK3CA and AKT1

  Turnaround time: 30 working days

• PML/RARA fusion gene testing

  Code 3178 · PCR

  Genes: gene fusão PML/RARA

  Turnaround time: 33 working days

• POLE gene testing (NGS)

  Code 3533 · NGS, Sanger sequencing, MLPA

  Genes: POLE

  Turnaround time: 30 working days