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

258 tests · Page 8 of 9

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

  Code 1011 · PCR

  Genes: MTHFR

  Turnaround time: 8 working days

• Mutations in the CEBPA gene

  Code 3188 · Sequencing

  Genes: CEBPA

  Turnaround time: 33 working days

• Mutations in the NPM1 gene

  Code 3187 · Sequencing

  Genes: NPM1

  Turnaround time: 33 working days

• MYD88 gene (L265P) mutation testing (bone marrow)

  Code 3121 · Sequencing

  Genes: MYD88

  Turnaround time: 33 working days

• MyPharmaGenes

  Code 3357 · DNA microchip

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

  Turnaround time: 15 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

• Noonan syndrome (BRAF gene, NGS)

  Code 11190 · Next-generation sequencing (NGS)

  Genes: BRAF

  Turnaround time: 33 working days

• Noonan syndrome (KRAS gene, NGS)

  Code 11189 · Next-generation sequencing (NGS)

  Genes: KRAS

  Turnaround time: 33 working days

• Noonan syndrome (NRAS gene, NGS)

  Code 11188 · Next-generation sequencing (NGS)

  Genes: NRAS

  Turnaround time: 33 working days

• Noonan syndrome (PTPN11 gene, NGS)

  Code 11191 · Next-generation sequencing (NGS)

  Genes: PTPN11

  Turnaround time: 33 working days

• Noonan syndrome (RAF1 gene, NGS)

  Code 11186 · Next-generation sequencing (NGS)

  Genes: RAF1

  Turnaround time: 33 working days

• Noonan syndrome (RIT1 gene, NGS)

  Code 10067 · Next-generation sequencing (NGS)

  Genes: RIT1

  Turnaround time: 33 working days

• Noonan syndrome (SOS1 gene, NGS)

  Code 11187 · Next-generation sequencing (NGS)

  Genes: SOS1

  Turnaround time: 33 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

• 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, NGS)

  Code 11288 · Next-generation sequencing (NGS)

  Genes: STK11

  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

• Plasminogen deficiency type 1 (PLG gene, NGS)

  Code 10550 · Next-generation sequencing (NGS)

  Genes: PLG

  Turnaround time: 33 working days

• PML/RARA fusion gene testing

  Code 3178 · PCR

  Genes: gene fusão PML/RARA

  Turnaround time: 33 working days

• Polyarteritis nodosa / Sneddon syndrome (ADA2 gene, NGS)

  Code 11296 · Next-generation sequencing (NGS)

  Genes: ADA2

  Turnaround time: 33 working days

• Predisposition to myeloid disorders (22-gene panel, NGS)

  Code 10151 · Next-generation sequencing (NGS)

  Genes: ACD, ANKRD26, CBL, CEBPA, DDX41, DKC1, ETV6, GATA2 and 14 more

  Turnaround time: 33 working days

• Predisposition to pediatric hematologic disorders (14-gene panel, NGS)

  Code 10152 · Next-generation sequencing (NGS)

  Genes: ATM, BLM, CEBPA, EPCAM, GATA2, HRAS, MLH1, MSH2 and 6 more

  Turnaround time: 33 working days

• Prothrombin (F2 gene, NGS)

  Code 11352 · Next-generation sequencing (NGS)

  Genes: F2

  Turnaround time: 33 working days

• Prothrombin gene mutation R 20210

  Code 3003 · PCR

  Genes: F2

  Turnaround time: 8 working days

• Pulmonary veno-occlusive disease (BMPR2 gene, NGS)

  Code 10857 · Next-generation sequencing (NGS)

  Genes: BMPR2

  Turnaround time: 33 working days

• Pulmonary veno-occlusive disease (EIF2AK3 gene, NGS)

  Code 10858 · Next-generation sequencing (NGS)

  Genes: EIF2AK3

  Turnaround time: 33 working days