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 2 of 14

• Breast/ovarian/pancreatic/prostate cancer (gene panel, NGS, CNVs)

  Code 3385 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Cancer predisposition, multiple types (81-gene panel, NGS)

  Code 10041 · Next-generation sequencing (NGS)

  Genes: APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1 and 72 more

  Turnaround time: 33 working days

• CBFB/MYH11 rearrangement testing [t(16;16)]

  Code 3065 · Molecular biology

  Genes: Rearranjo CBFB/M YH11 t(16;16)

  Turnaround time: 11 working days

• Central nervous system cancer (24-gene panel, NGS)

  Code 10159 · Next-generation sequencing (NGS)

  Genes: APC, DICER1, EPCAM, HRAS, LZTR1, MLH1, MSH2, MSH6 and 16 more

  Turnaround time: 33 working days

• c-kit gene D816V mutation testing (mastocytosis)

  Code 3062 · Molecular biology

  Genes: cKIT

  Turnaround time: 11 working days

• CLL panel testing - 11q22.3 deletion

  Code 3086 · Fluorescence in situ hybridization (FISH)

  Genes: FISH 11q22.3

  Turnaround time: 10 working days

• CLL panel testing - 13q14.3 deletion

  Code 3085 · Fluorescence in situ hybridization (FISH)

  Genes: FISH 13q14.3

  Turnaround time: 10 working days

• CLL panel testing - 13q14.3 deletion (bone marrow)

  Code 3123 · Fluorescence in situ hybridization (FISH)

  Genes: FISH 13q14.3

  Turnaround time: 10 working days

• CLL panel testing - p53 gene (17p13.1)

  Code 3087 · Fluorescence in situ hybridization (FISH)

  Genes: FISH gene p53 (17p13.1)

  Turnaround time: 10 working days

• CLL panel testing - p53 gene (17p13.1) (bone marrow)

  Code 3122 · Fluorescence in situ hybridization (FISH)

  Genes: FISH gene p53 (17p13.1)

  Turnaround time: 10 working days

• CLL panel testing - trisomy 12

  Code 3088 · Fluorescence in situ hybridization (FISH)

  Genes: FISH cromossoma 12

  Turnaround time: 10 working days

• Clopidogrel pharmacogenetics (CYP2C19 gene)

  Code 3180 · Sequencing

  Genes: CYP2C19

  Turnaround time: 33 working days

• Colon somatic panel, liquid biopsy

  Code 4434 · Next-generation sequencing (NGS)

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

  Turnaround time: 30 working days

• Colon somatic panel, tissue biopsy

  Code 4433 · Next-generation sequencing (NGS)

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

  Turnaround time: 30 working days

• Colorectal cancer (5-gene panel, NGS, MLPA)

  Code 3388 · Next-generation sequencing (NGS) + MLPA

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Colorectal cancer (CRC) and polyposis syndromes (gene panel, NGS, CNVs)

  Code 3430 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Congenital central hypoventilation syndrome (18-gene panel, NGS)

  Code 10031 · Next-generation sequencing (NGS)

  Genes: ASCL1, BDNF, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ and 10 more

  Turnaround time: 33 working days

• Congenital erythroblastopenia (Blackfan-Diamond anemia) and differential diagnosis (18-gene panel, NGS)

  Code 10154 · Next-generation sequencing (NGS)

  Genes: GATA1, RPL11, RPL15, RPL19, RPL26, RPL35A, RPL5, RPS10 and 10 more

  Turnaround time: 33 working days

• Costello syndrome (HRAS gene, NGS)

  Code 10519 · Next-generation sequencing (NGS)

  Genes: HRAS

  Turnaround time: 33 working days

• Cowden disease type 5 (PIK3CA gene, NGS)

  Code 10521 · Next-generation sequencing (NGS)

  Genes: PIK3CA

  Turnaround time: 33 working days

• Cowden syndrome (PTEN gene, NGS)

  Code 10520 · Next-generation sequencing (NGS)

  Genes: PTEN

  Turnaround time: 33 working days

• CTNNA1 gene testing (NGS, CNVs)

  Code 3523 · Next-generation sequencing (NGS) + CNVs

  Genes: CTNNA1

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (9-gene panel, NGS)

  Code 10378 · Next-generation sequencing (NGS)

  Genes: RPS19, RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17 and 1 more

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (9-gene panel, NGS)

  Code 3252 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPL11 gene, NGS)

  Code 10385 · Next-generation sequencing (NGS)

  Genes: RPL11

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPL35A gene, NGS)

  Code 10381 · Next-generation sequencing (NGS)

  Genes: RPL35A

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPL5 gene, NGS)

  Code 10380 · Next-generation sequencing (NGS)

  Genes: RPL5

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS10 gene, NGS)

  Code 10384 · Next-generation sequencing (NGS)

  Genes: RPS10

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS17 gene, NGS)

  Code 10383 · Next-generation sequencing (NGS)

  Genes: RPS17

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS19 gene, NGS)

  Code 10379 · Next-generation sequencing (NGS)

  Genes: RPS19

  Turnaround time: 33 working days