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

258 tests · Page 1 of 9

• 6-Mercaptopurine (thiopurine S-methyltransferase deficiency) (TPMT gene, NGS)

  Code 10014 · Next-generation sequencing (NGS)

  Genes: TPMT

  Turnaround time: 33 working days

• ABO genotyping

  Code 3305 · PCR

  Genes: Genotipagem ABO

  Turnaround time: 18 working days

• Aceruloplasminemia (CP gene, NGS)

  Code 10097 · Next-generation sequencing (NGS)

  Genes: CP

  Turnaround time: 33 working days

• Alpha-thalassemia (2-gene panel, NGS)

  Code 10207 · Next-generation sequencing (NGS)

  Genes: HBA1, HBA2

  Turnaround time: 33 working days

• AML1/ETO rearrangement testing [t(8;21)]

  Code 3064 · Molecular biology

  Genes: Rearranjo AML1/ETO t(8;21)

  Turnaround time: 48 working days

• AMN gene testing (sequencing)

  Code 3343 · Sanger sequencing

  Genes: AMN

  Turnaround time: 33 working days

• Antithrombin III deficiency (SERPINC1 gene, sequencing)

  Code 3325 · Sanger sequencing

  Genes: SERPINC1

  Turnaround time: 33 working days

• Apolipoprotein E - genotype

  Code 827 · PCR

  Genes: APOE

  Turnaround time: 9 working days

• ATR-X syndrome (ATRX gene, NGS)

  Code 10330 · Next-generation sequencing (NGS)

  Genes: ATRX

  Turnaround time: 33 working days

• Atypical hemolytic uremic syndrome (14-gene panel, NGS)

  Code 10960 · Next-generation sequencing (NGS)

  Genes: CFH, CFI, CD46, CFB, C3, THBD, DGKE, CFHR1 and 6 more

  Turnaround time: 33 working days

• B-cell clonality – IgH

  Code 3199 · PCR

  Genes: IgH

  Turnaround time: 17 working days

• BCR/ABL t(9;22) (p190) quantification (PCR)

  Code 3080 · Molecular hybridization / PCR

  Genes: BCR/ABL t (9;22) (p190)

  Turnaround time: 24 working days

• BCR/ABL t(9;22) (p210) quantification (PCR)

  Code 3081 · Molecular hybridization / PCR

  Genes: BCR/ABL t (9;22) (p210)

  Turnaround time: 24 working days

• Bernard-Soulier syndrome (GP1BA gene, NGS)

  Code 10372 · Next-generation sequencing (NGS)

  Genes: GP1BA

  Turnaround time: 33 working days

• Bernard-Soulier syndrome (GP1BB gene, NGS)

  Code 10373 · Next-generation sequencing (NGS)

  Genes: GP1BB

  Turnaround time: 33 working days

• Bernard-Soulier syndrome (GP9 gene, NGS)

  Code 10371 · Next-generation sequencing (NGS)

  Genes: GP9

  Turnaround time: 33 working days

• Beta-thalassemia (HBB gene, NGS)

  Code 10375 · Next-generation sequencing (NGS)

  Genes: HBB

  Turnaround time: 33 working days

• CADASIL [Notch3 gene mutations]

  Code 3024 · Molecular biology

  Genes: NOTCH3

  Turnaround time: 35 working days

• CADASIL type I (NOTCH3 gene, NGS)

  Code 3245 · Next-generation sequencing (NGS)

  Genes: NOTCH3

  Turnaround time: 33 working days

• CALR mutation analysis

  Code 3155 · Molecular hybridization (PCR)

  Genes: CALR

  Turnaround time: 10 working days

• Camurati-Engelmann syndrome (TGFB1 gene, NGS)

  Code 10416 · Next-generation sequencing (NGS)

  Genes: TGFB1

  Turnaround time: 33 working days

• Cardiomyopathies (201-gene panel, NGS)

  Code 3338 · Next-generation sequencing (NGS)

  Genes: AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK and 193 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

• Chediak-Higashi syndrome (LYST gene, NGS)

  Code 10472 · Next-generation sequencing (NGS)

  Genes: LYST

  Turnaround time: 33 working days

• c-kit gene D816V mutation testing (mastocytosis)

  Code 3062 · Molecular biology

  Genes: cKIT

  Turnaround time: 11 working days

• Clinical exome reanalysis (sequencing)

  Code 3367 · Next-generation sequencing (NGS)

  Turnaround time: 78 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