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 4 of 14

• Expanded familial endocrine cancer (26-gene panel, NGS)

  Code 10058 · Next-generation sequencing (NGS)

  Genes: APC, CASR, CDC73, CDKN1B, CHEK2, DICER1, FH, HABP2 and 18 more

  Turnaround time: 33 working days

• Factor VIII full gene sequencing

  Code 3158 · Sequencing

  Genes: F8

  Turnaround time: 33 working days

• Familial adenomatous polyposis (11-gene panel, NGS)

  Code 10147 · Next-generation sequencing (NGS)

  Genes: APC, AXIN2, EZH2, GREM1, MUTYH, NTHL1, POLD1, POLE and 3 more

  Turnaround time: 33 working days

• Familial adenomatous polyposis - APC, MUTYH genes

  Code 4004 · NGS, Sanger sequencing, MLPA

  Genes: APC, MUTYH

  Turnaround time: 30 working days

• Familial breast and ovarian cancer (gene panel, NGS, CNVs)

  Code 3448 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 13 working days

• Familial chondrosarcoma (2-gene panel, NGS)

  Code 10054 · Next-generation sequencing (NGS)

  Genes: EXT1, EXT2

  Turnaround time: 33 working days

• Familial colorectal cancer (20-gene panel, NGS)

  Code 10055 · Next-generation sequencing (NGS)

  Genes: APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1 and 12 more

  Turnaround time: 33 working days

• Familial endometrial cancer (8-gene panel, NGS)

  Code 10057 · Next-generation sequencing (NGS)

  Genes: MLH1, MSH2, MSH6, PMS2, EPCAM, TP53, PTEN, STK11

  Turnaround time: 33 working days

• Familial medullary thyroid carcinoma (RET gene, NGS, CNVs)

  Code 3390 · Next-generation sequencing (NGS) + CNVs

  Genes: RET

  Turnaround time: 30 working days

• Familial melanoma (9-gene panel, NGS)

  Code 10053 · Next-generation sequencing (NGS)

  Genes: BRCA2, BAP1, CDK4, CDKN2A, MITF, POT1, PTCH1, TP53 and 1 more

  Turnaround time: 33 working days

• Familial multiple endocrine neoplasia (3-gene panel, NGS)

  Code 10046 · Next-generation sequencing (NGS)

  Genes: MEN1, RET, CDKN1B

  Turnaround time: 33 working days

• Familial non-medullary thyroid cancer (7-gene panel, NGS)

  Code 10149 · Next-generation sequencing (NGS)

  Genes: APC, DICER1, HABP2, PRKAR1A, PTEN, SEC23B, WRN

  Turnaround time: 33 working days

• Familial paraganglioma (5-gene panel, NGS)

  Code 10051 · Next-generation sequencing (NGS)

  Genes: SDHB, SDHC, SDHD, SDHAF2, VHL

  Turnaround time: 33 working days

• Familial parathyroid cancer (5-gene panel, NGS)

  Code 10048 · Next-generation sequencing (NGS)

  Genes: CASR, CDC73, CDKN1B, MEN1, RET

  Turnaround time: 33 working days

• Familial pheochromocytoma (15-gene panel, NGS)

  Code 10050 · Next-generation sequencing (NGS)

  Genes: CDC73, CDKN1B, FH, KIF1B, MAX, NF1, PRKAR1A, RET and 7 more

  Turnaround time: 33 working days

• Familial renal cancer (15-gene panel, NGS)

  Code 10044 · Next-generation sequencing (NGS)

  Genes: FH, FLCN, HNF1A, HRAS, MET, MLH1, MSH2, MSH6 and 7 more

  Turnaround time: 33 working days

• Familial thyroid cancer (13-gene panel, NGS)

  Code 10047 · Next-generation sequencing (NGS)

  Genes: APC, CHEK2, DICER1, HABP2, MEN1, NTRK1, PRKAR1A, PTEN and 5 more

  Turnaround time: 33 working days

• Familial variant testing (1 mutation)

  Code 4198 · Sanger sequencing

  Genes: 1 mutação

  Turnaround time: 24 working days

• Familial variant testing (2 mutations)

  Code 4199 · Sanger sequencing

  Genes: 2 mutações

  Turnaround time: 24 working days

• Familial variant testing (Sanger) - APC gene

  Code 4165 · Sanger sequencing

  Genes: APC

  Turnaround time: 15 working days

• Familial variant testing (Sanger) - ATM gene

  Code 4173 · Sanger sequencing

  Genes: ATM

  Turnaround time: 15 working days

• Familial variant testing (Sanger) - BAP1 gene

  Code 4169 · Sanger sequencing

  Genes: BAP1

  Turnaround time: 15 working days

• Familial variant testing (Sanger) - BRAF gene

  Code 4158 · Sanger sequencing

  Genes: BRAF

  Turnaround time: 15 working days

• Familial variant testing (Sanger) - BRCA1 gene

  Code 4150 · Sanger sequencing

  Genes: BRCA1

  Turnaround time: 15 working days

• Familial variant testing (Sanger) - BRCA2 gene

  Code 4151 · Sanger sequencing

  Genes: BRCA2

  Turnaround time: 15 working days

• Familial variant testing (Sanger) - CDH1 gene

  Code 4155 · Sanger sequencing

  Genes: CDH1

  Turnaround time: 15 working days

• Familial variant testing (Sanger) - CDK4 gene

  Code 4168 · Sanger sequencing

  Genes: CDK4

  Turnaround time: 15 working days

• Familial variant testing (Sanger) - CDKN2A gene

  Code 4167 · Sanger sequencing

  Genes: CDKN2A

  Turnaround time: 15 working days

• Familial variant testing (Sanger) - MLH1 gene

  Code 4164 · Sanger sequencing

  Genes: MLH1

  Turnaround time: 15 working days

• Familial variant testing (Sanger) - MSH2 gene

  Code 4163 · Sanger sequencing

  Genes: MSH2

  Turnaround time: 15 working days