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 12 of 14

• Polycystic kidney disease - PKD1, PKD2, PKHD1 genes

  Code 4011 · NGS, Sanger sequencing, MLPA

  Genes: PKD1, PKD2, PKHD1

  Turnaround time: 30 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

• Predisposition to pediatric solid tumors (104-gene panel, NGS)

  Code 10163 · Next-generation sequencing (NGS)

  Genes: AIP, ALK, APC, ATM, AXIN2, BAP1, BLM, BMPR1A and 96 more

  Turnaround time: 33 working days

• Prolaris - Myriad

  Code 4701 · Real-time PCR

  Genes: Assinatura Genómica

  Turnaround time: 30 working days

• Prostate cancer, HDR (gene panel, NGS), liquid biopsy

  Code 3383 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Prostate cancer, HDR (gene panel, NGS), tissue biopsy

  Code 3382 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Proteus syndrome (AKT1 gene, NGS)

  Code 11306 · Next-generation sequencing (NGS)

  Genes: AKT1

  Turnaround time: 33 working days

• Renal cancer (gene panel, NGS, CNVs)

  Code 3436 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Retinoblastoma (hotspots) (RB1 gene, NGS)

  Code 11329 · Next-generation sequencing (NGS)

  Genes: RB1

  Turnaround time: 33 working days

• Retinoblastoma (RB1 gene, NGS)

  Code 10052 · Next-generation sequencing (NGS)

  Genes: RB1

  Turnaround time: 33 working days

• RNA extraction, liquid biopsy 10 mL

  Code 4405 · Next-generation sequencing (NGS)

  Genes: Extração RNA Biópsia Líquida 10 ml

  Turnaround time: 30 working days

• RNA extraction, tissue biopsy (FFPE)

  Code 4404 · Next-generation sequencing (NGS)

  Genes: Extração RNA Biópsia Tissular (FFPE)

  Turnaround time: 30 working days

• RT-PCR testing for t(9;22) (BCR/ABL rearrangement)

  Code 3052 · PCR

  Genes: RT-PCR de t(9;22)

  Turnaround time: 12 working days

• Rubinstein-Taybi syndrome (2-gene panel, NGS)

  Code 11338 · Next-generation sequencing (NGS)

  Genes: CREBBP, EP300

  Turnaround time: 33 working days

• Rubinstein-Taybi syndrome (CREBBP gene, NGS)

  Code 11337 · Next-generation sequencing (NGS)

  Genes: CREBBP

  Turnaround time: 33 working days

• Schwannomatosis (SMARCB1 gene, NGS)

  Code 3281 · Next-generation sequencing (NGS)

  Genes: SMARCB1

  Turnaround time: 33 working days

• SDHD gene testing

  Code 3138 · PCR / Sequencing

  Genes: SDHD

  Turnaround time: 33 working days

• Select MDX

  Code 3273 · PCR

  Genes: Select MDX

  Turnaround time: 30 working days

• Selenoprotein gene mutation testing

  Code 2456 · PCR

  Genes: SELENOP

  Turnaround time: 33 working days

• Septin 9 gene testing (mSept9)

  Code 3068 · PCR

  Genes: Septina 9 (mSept9)

  Turnaround time: 45 working days

• Signatera (ctDNA)

  Code 3399 · Next-generation sequencing (NGS) + CNVs

  Turnaround time: 30 working days

• Signatera (minimal residual disease monitoring)

  Code 3400 · Next-generation sequencing (NGS) + CNVs

  Turnaround time: 30 working days

• Simpson-Golabi-Behmel syndrome type 1 (GPC3 gene, NGS)

  Code 11341 · Next-generation sequencing (NGS)

  Genes: GPC3

  Turnaround time: 33 working days

• Small cell ovarian cancer (gene panel, NGS, CNVs)

  Code 3428 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Somatic ESR1 gene sequencing, liquid biopsy

  Code 4419 · Next-generation sequencing (NGS)

  Genes: ESR1

  Turnaround time: 30 working days

• Somatic ESR1 gene sequencing, tissue biopsy

  Code 4418 · Next-generation sequencing (NGS)

  Genes: ESR1

  Turnaround time: 30 working days

• Somatic HER2 gene sequencing, liquid biopsy

  Code 4421 · Next-generation sequencing (NGS)

  Genes: HER2

  Turnaround time: 30 working days

• Somatic HER2 gene sequencing, tissue biopsy

  Code 4420 · Next-generation sequencing (NGS)

  Genes: HER2

  Turnaround time: 30 working days

• Somatic TP53 gene sequencing, liquid biopsy

  Code 4423 · Next-generation sequencing (NGS)

  Genes: TP53

  Turnaround time: 30 working days