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 8 of 14

• Genetic testing of the NTHL1 gene (NGS, Sanger)

  Code 4233 · NGS, Sanger sequencing

  Genes: NTHL1

  Turnaround time: 30 working days

• Genetic testing of the PALB2 gene (NGS, Sanger)

  Code 4222 · NGS, Sanger sequencing

  Genes: PALB2

  Turnaround time: 30 working days

• Genetic testing of the PMS2 gene (NGS, Sanger)

  Code 4211 · NGS, Sanger sequencing

  Genes: PMS2

  Turnaround time: 30 working days

• Genetic testing of the PTEN gene (NGS, Sanger)

  Code 4202 · NGS, Sanger sequencing

  Genes: PTEN

  Turnaround time: 30 working days

• Genetic testing of the RAD51C gene (NGS, Sanger)

  Code 4227 · NGS, Sanger sequencing

  Genes: RAD51C

  Turnaround time: 30 working days

• Genetic testing of the RAD51D gene (NGS, Sanger)

  Code 4228 · NGS, Sanger sequencing

  Genes: RAD51D

  Turnaround time: 30 working days

• Genetic testing of the RET gene (NGS, Sanger)

  Code 4225 · NGS, Sanger sequencing

  Genes: RET

  Turnaround time: 30 working days

• Genetic testing of the SMAD4 gene (NGS, Sanger)

  Code 4210 · NGS, Sanger sequencing

  Genes: SMAD4

  Turnaround time: 30 working days

• Genetic testing of the STK11 gene (NGS, Sanger)

  Code 4204 · NGS, Sanger sequencing

  Genes: STK11

  Turnaround time: 30 working days

• Genetic testing of the TP53 gene (NGS, Sanger)

  Code 4203 · NGS, Sanger sequencing

  Genes: TP53

  Turnaround time: 30 working days

• Genomic signature with TMB and MSI assessment

  Code 3451 · Next-generation sequencing (NGS) + CNVs

  Turnaround time: 30 working days

• GIST (gene panel, NGS, CNVs)

  Code 3433 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Gorlin syndrome (PTCH1 gene, NGS)

  Code 10952 · Next-generation sequencing (NGS)

  Genes: PTCH1

  Turnaround time: 33 working days

• Gorlin syndrome (SUFU gene, NGS)

  Code 10951 · Next-generation sequencing (NGS)

  Genes: SUFU

  Turnaround time: 33 working days

• Hereditary bone marrow failure syndromes (51-gene panel, NGS)

  Code 10153 · Next-generation sequencing (NGS)

  Genes: BRCA2, BRIP1, CSF3R, CTC1, DKC1, ELANE, ERCC4, FANCA and 41 more

  Turnaround time: 33 working days

• Hereditary breast and ovarian cancer (10-gene panel, NGS)

  Code 3378 · NGS, Sanger sequencing, MLPA

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Hereditary breast and ovarian cancer (30-gene panel, NGS)

  Code 4013 · NGS, Sanger sequencing, MLPA

  Genes: PALB2, TP53, MSH2, RAD51C, BRCA1, STK11, MUTYH, PMS2 and 22 more

  Turnaround time: 30 working days

• Hereditary breast and ovarian cancer - BRCA1, BRCA2 genes

  Code 4001 · NGS, Sanger sequencing, MLPA

  Genes: BRCA1, BRCA2

  Turnaround time: 30 working days

• Hereditary breast and ovarian cancer (gene panel, NGS), tissue biopsy

  Code 3348 · Next-generation sequencing (NGS)

  Genes: BRCA1, BRCA2, ATM, P53, MLH1, PMS2

  Turnaround time: 30 working days

• Hereditary colon cancer - 19-gene panel

  Code 4002 · NGS, Sanger sequencing, MLPA

  Genes: APC, BMPR1A, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH and 11 more

  Turnaround time: 30 working days

• Hereditary gastric cancer - CDH1 gene

  Code 4005 · NGS, Sanger sequencing, MLPA

  Genes: CDH1

  Turnaround time: 30 working days

• Hereditary gastric cancer (CDH1 gene, NGS)

  Code 3380 · NGS, Sanger sequencing, MLPA

  Genes: CDH1

  Turnaround time: 30 working days

• Hereditary melanoma - 5-gene panel

  Code 4006 · NGS, Sanger sequencing, MLPA

  Genes: CDKN2A, CDK4, BAP1, MITF, MC1R

  Turnaround time: 30 working days

• Hereditary melanoma (BRAF, KRAS, NRAS, NFI genes, sequencing)

  Code 3297 · Next-generation sequencing (NGS)

  Genes: BRAF, KRAS, NRAS, NF

  Turnaround time: 33 working days

• Hereditary melanoma (CDKN2A and CDKN2B genes, NGS, CNVs)

  Code 3394 · Next-generation sequencing (NGS) + CNVs

  Genes: CDKN2A, CDKN2B

  Turnaround time: 30 working days

• Hereditary melanoma (CDKN2A gene, NGS, MLPA)

  Code 3393 · Next-generation sequencing (NGS) + MLPA

  Genes: CDKN2A

  Turnaround time: 30 working days

• Hereditary melanoma (gene panel, NGS, CNVs)

  Code 3401 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Hereditary pancreatic cancer

  Code 4007 · NGS, Sanger sequencing, MLPA

  Genes: ATM,BRCA1,BRCA2,CDKN2A,CFTR,EPCAM,MSH2,MSH6,MLH1,PALB2,PRSS1,PMS2,SPINK1,STK11, TP53 + MLPA genes BRCA1 e BRCA2 com inserção Alu

  Turnaround time: 30 working days

• Hereditary pancreatitis (6-gene panel, NGS)

  Code 4041 · NGS, Sanger sequencing, MLPA

  Genes: PRSS1, PRSS2, SPINK1, CFTR, CTRC, CASR

  Turnaround time: 30 working days

• Hereditary prostate cancer

  Code 4008 · NGS, Sanger sequencing, MLPA

  Genes: ATM,BRCA1,BRCA2,CHEK2,EPCAM,HOXB13,MSH2,MSH6,MLH1,PALB2,PMS2 + MLPA genes BRCA1 e BRCA2 com inserção Alu;

  Turnaround time: 30 working days