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 5 of 9

• FISH - t(14;18) [IgH/MALT1] (bone marrow)

  Code 3198 · Fluorescence in situ hybridization (FISH)

  Genes: FISH t(14;18) (IgH/MALT1)

  Turnaround time: 10 working days

• FISH - t(14;20) (bone marrow)

  Code 3157 · Fluorescence in situ hybridization (FISH)

  Genes: FISH t(14;20)

  Turnaround time: 10 working days

• FISH - t(4;14) (bone marrow)

  Code 3140 · Fluorescence in situ hybridization (FISH)

  Genes: FISH - t(4;14)

  Turnaround time: 10 working days

• FISH - t(5;14) [IL3-IGH]

  Code 3192 · Fluorescence in situ hybridization (FISH)

  Genes: FISH t(5;14) (IL3-IGH)

  Turnaround time: 10 working days

• FISH - t(6;9) [DEK-NUP214]

  Code 3284 · Fluorescence in situ hybridization (FISH)

  Genes: FISH t(6;9) (DEK- NUP214)

  Turnaround time: 10 working days

• FISH - t(8;14) [MYC/IgH] (bone marrow)

  Code 3195 · Fluorescence in situ hybridization (FISH)

  Genes: FISH t(8;14) (MYC/IgH)

  Turnaround time: 10 working days

• FISH - t(9;11) [MLLT3-KMT2A]

  Code 3183 · Fluorescence in situ hybridization (FISH)

  Genes: FISH t(9;11)(MLLT3- KMT2A)

  Turnaround time: 10 working days

• FISH - t(9;22)

  Code 3014 · Fluorescence in situ hybridization (FISH)

  Genes: FISH - t (9;22)

  Turnaround time: 10 working days

• FISH - t(v;11q23.3) [KMT2A]

  Code 3190 · Fluorescence in situ hybridization (FISH)

  Genes: FISH t(v;11q23.3) (KMT2A)

  Turnaround time: 10 working days

• FISH with centromeric probe

  Code 3019 · Fluorescence in situ hybridization (FISH)

  Genes: FISH

  Turnaround time: 11 working days

• FISH with subtelomeric probe

  Code 3007 · In situ hybridization - probe

  Genes: FISH

  Turnaround time: 11 working days

• FLT3 mutations

  Code 3189 · Sequencing

  Genes: FLT3

  Turnaround time: 33 working days

• Genetic testing for iron overload disorders

  Code 3340 · Next-generation sequencing (NGS)

  Genes: ATN1, ATP13A2, ATP7B, C19orf12, COASY, CP, DCAF17, FA2H and 12 more

  Turnaround time: 33 working days

• Genetic testing for prothrombotic risk factors [EGFRP]

  Code 3015 · PCR

  Genes: Factor V de Leiden, Mutação G20210A no gene F2 Mutação C677T no gene MTHFR Mutação A1298C no gene MTHFR Alelos 4G/5G no gene PAI1

  Turnaround time: 10 working days

• Genetic testing of ferroportin (SLC40A1)

  Code 3115 · Sequencing

  Genes: SLC40A1

  Turnaround time: 33 working days

• Genetic testing of the BAP1 gene (NGS, Sanger)

  Code 4219 · NGS, Sanger sequencing

  Genes: BAP1

  Turnaround time: 30 working days

• Genetic testing of the CDK4 gene (NGS, Sanger)

  Code 4218 · NGS, Sanger sequencing

  Genes: CDK4

  Turnaround time: 30 working days

• Glomuvenous malformations (GLMN gene, NGS)

  Code 11113 · Next-generation sequencing (NGS)

  Genes: GLMN

  Turnaround time: 33 working days

• Glucose-6-phosphate dehydrogenase deficiency (G6PD gene, NGS)

  Code 10578 · Next-generation sequencing (NGS)

  Genes: G6PD

  Turnaround time: 33 working days

• Glucose-6-phosphate dehydrogenase deficiency (G6PD gene, sequencing)

  Code 3349 · Sanger sequencing

  Genes: G6PD

  Turnaround time: 33 working days

• Glutathione synthetase deficiency (GSS gene, NGS)

  Code 10579 · Next-generation sequencing (NGS)

  Genes: GSS

  Turnaround time: 33 working days

• Glycogen storage disease due to muscle phosphofructokinase deficiency (PFKM gene, NGS)

  Code 10209 · Next-generation sequencing (NGS)

  Genes: PFKM

  Turnaround time: 33 working days

• GNAS gene testing (sequencing)

  Code 3328 · Sanger sequencing

  Genes: GNAS

  Turnaround time: 33 working days

• Hemochromatosis (6-gene panel, NGS)

  Code 3356 · Next-generation sequencing (NGS)

  Genes: HAMP, HFE, HJV, SLC40A1, TFR2, FTH1

  Turnaround time: 33 working days

• Hemoglobinopathy D (3-gene panel, NGS)

  Code 10959 · Next-generation sequencing (NGS)

  Genes: HBB, HBG1, HBG2

  Turnaround time: 33 working days

• Hemolytic anemia due to hexokinase deficiency (HK1 gene, NGS)

  Code 10258 · Next-generation sequencing (NGS)

  Genes: HK1

  Turnaround time: 33 working days

• Hemolytic uremic syndrome (CFH gene, NGS)

  Code 10789 · Next-generation sequencing (NGS)

  Genes: CFH

  Turnaround time: 33 working days

• Hemophilia A and B (16-gene panel, NGS)

  Code 10958 · Next-generation sequencing (NGS)

  Genes: F10, F11, F12, F13A1, F2, F5, F7, F8 and 8 more

  Turnaround time: 33 working days

• Hemophilia A (F8 gene, NGS)

  Code 10271 · Next-generation sequencing (NGS)

  Genes: F8

  Turnaround time: 33 working days

• Hemophilia B (F9 gene, NGS)

  Code 10272 · Next-generation sequencing (NGS)

  Genes: F9

  Turnaround time: 33 working days