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 10 of 14

• MDS panel testing [FISH]

  Code 3057 · Fluorescence in situ hybridization (FISH)

  Genes: FISH 5q-, 7q-, 20q-

  Turnaround time: 10 working days

• MDS panel testing - monosomy 7

  Code 3167 · Fluorescence in situ hybridization (FISH)

  Genes: Cromossoma 7

  Turnaround time: 10 working days

• MDS panel testing - monosomy 7 (bone marrow)

  Code 3162 · Fluorescence in situ hybridization (FISH)

  Genes: Cromossoma 7

  Turnaround time: 10 working days

• MDS panel testing - trisomy 8

  Code 3169 · Fluorescence in situ hybridization (FISH)

  Genes: Cromossoma 8

  Turnaround time: 10 working days

• MDS panel testing - trisomy 8 (bone marrow)

  Code 3159 · Fluorescence in situ hybridization (FISH)

  Genes: Cromossoma 8

  Turnaround time: 10 working days

• Microsatellite instability testing (blood)

  Code 4149 · Next-generation sequencing (NGS)

  Genes: 5 microssatélites

  Turnaround time: 15 working days

• Microsatellite instability testing (paraffin)

  Code 4499 · Fragment analysis

  Genes: 5 Microssatélites

  Turnaround time: 21 working days

• Microsatellite instability testing (slides)

  Code 4498 · Fragment analysis

  Genes: 5 Microssatélites

  Turnaround time: 21 working days

• Molecular testing of the JAK2 gene (exon 12) (blood)

  Code 2616 · PCR / Sequencing

  Genes: JAK2 (Exão 12)

  Turnaround time: 25 working days

• Molecular testing of the JAK2 gene, V617F mutation (blood)

  Code 1582 · PCR

  Genes: JAK2

  Turnaround time: 18 working days

• MTHFR gene [1298 A-->C mutation] (PCR)

  Code 1911 · Real-time PCR

  Genes: MTHFR

  Turnaround time: 12 working days

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

  Code 1011 · PCR

  Genes: MTHFR

  Turnaround time: 8 working days

• Multiple endocrine neoplasia (CDKN1B gene, MLPA)

  Code 3518 · MLPA

  Genes: CDKN1B

  Turnaround time: 33 working days

• Multiple endocrine neoplasia (CDKN1B gene, NGS)

  Code 3517 · Next-generation sequencing (NGS)

  Genes: CDKN1B

  Turnaround time: 23 working days

• Multiple endocrine neoplasia (gene panel, NGS, CNVs)

  Code 3435 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Multiple endocrine neoplasia type 1 (MEN1 gene, sequencing)

  Code 3278 · Next-generation sequencing (NGS)

  Genes: MEN1

  Turnaround time: 33 working days

• Multiple endocrine neoplasia type 1 (MEN1) (MEN1 gene, NGS)

  Code 11163 · Next-generation sequencing (NGS)

  Genes: MEN1

  Turnaround time: 33 working days

• Multiple endocrine neoplasia type 2 (MEN2) (RET gene, NGS)

  Code 11164 · Next-generation sequencing (NGS)

  Genes: RET

  Turnaround time: 33 working days

• Mutational profile, 2%, liquid biopsy

  Code 4413 · Next-generation sequencing (NGS)

  Genes: Mutation hotspots in 50 cancer-related genes (ABL1, EGFR, GNAS, KRAS, PTPN11, AKT1, ERBB2, GNAQ, MET, RB1, ALK, ERBB4, HNF1A, MLH1, RET, APC, EZH2, HRAS, MPL…

  Turnaround time: 30 working days

• Mutational profile, 2%, tissue biopsy

  Code 4412 · Next-generation sequencing (NGS)

  Genes: Mutation hotspots in 50 cancer-related genes (ABL1, EGFR, GNAS, KRAS, PTPN11, AKT1, ERBB2, GNAQ, MET, RB1, ALK, ERBB4, HNF1A, MLH1, RET, APC, EZH2, HRAS, MPL…

  Turnaround time: 30 working days

• Mutational profile, 5%, liquid biopsy

  Code 4411 · Next-generation sequencing (NGS)

  Genes: Mutation hotspots in 50 cancer-related genes (ABL1, EGFR, GNAS, KRAS, PTPN11, AKT1, ERBB2, GNAQ, MET, RB1, ALK, ERBB4, HNF1A, MLH1, RET, APC, EZH2, HRAS, MPL…

  Turnaround time: 30 working days

• Mutational profile, 5%, tissue biopsy

  Code 4410 · Next-generation sequencing (NGS)

  Genes: Mutation hotspots in 50 cancer-related genes (ABL1, EGFR, GNAS, KRAS, PTPN11, AKT1, ERBB2, GNAQ, MET, RB1, ALK, ERBB4, HNF1A, MLH1, RET, APC, EZH2, HRAS, MPL…

  Turnaround time: 30 working days

• Mutational profile, liquid biopsy and tissue biopsy

  Code 4414 · Next-generation sequencing (NGS)

  Genes: Mutation hotspots in 50 cancer-related genes (ABL1, EGFR, GNAS, KRAS, PTPN11, AKT1, ERBB2, GNAQ, MET, RB1, ALK, ERBB4, HNF1A, MLH1, RET, APC, EZH2, HRAS, MPL…

  Turnaround time: 30 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

• MUTYH gene testing (NGS, MLPA)

  Code 3387 · Next-generation sequencing (NGS) + MLPA

  Genes: MUTYH

  Turnaround time: 30 working days

• MyChoice CDx Plus

  Code 3363 · Next-generation sequencing (NGS)

  Turnaround time: 30 working days

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

  Code 3121 · Sequencing

  Genes: MYD88

  Turnaround time: 33 working days

• Nervous system/brain cancer (glioma) (7-gene panel, NGS)

  Code 10158 · Next-generation sequencing (NGS)

  Genes: ATM, NF1, NF2, POT1, SMARCE1, SUFU, WRN

  Turnaround time: 33 working days

• Neurofibromatosis (2-gene panel, NGS)

  Code 10049 · Next-generation sequencing (NGS)

  Genes: NF1, NF2

  Turnaround time: 33 working days