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 7 of 9

• Karyotype of lymphocytes in a biological sample

  Code 3044 · Cytogenetic analysis

  Genes: Cariótipo

  Turnaround time: 13 working days

• Lesch-Nyhan syndrome (HPRT1 gene, NGS)

  Code 10189 · Next-generation sequencing (NGS)

  Genes: HPRT1

  Turnaround time: 33 working days

• Leukocyte adhesion deficiency type 1 (ITGB2 gene, NGS)

  Code 10565 · Next-generation sequencing (NGS)

  Genes: ITGB2

  Turnaround time: 33 working days

• MDS panel testing - 20q12 deletion

  Code 3168 · Fluorescence in situ hybridization (FISH)

  Genes: 20q12

  Turnaround time: 10 working days

• MDS panel testing - 20q12 deletion (bone marrow)

  Code 3160 · Fluorescence in situ hybridization (FISH)

  Genes: 20q12

  Turnaround time: 10 working days

• MDS panel testing - 5q31 deletion

  Code 3166 · Fluorescence in situ hybridization (FISH)

  Genes: 5q31

  Turnaround time: 10 working days

• MDS panel testing - 5q31 deletion (bone marrow)

  Code 3161 · Fluorescence in situ hybridization (FISH)

  Genes: 5q31

  Turnaround time: 10 working days

• 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

• Methylmalonic acidemia - homocystinuria type c1431_1433dupAAA, MMACHC gene (MMACHC gene, NGS)

  Code 10114 · Next-generation sequencing (NGS)

  Genes: MMACHC

  Turnaround time: 33 working days

• Methylmalonic acidemia - homocystinuria, type cblC (MMACHC gene, NGS)

  Code 10115 · Next-generation sequencing (NGS)

  Genes: MMACHC

  Turnaround time: 33 working days

• Methylmalonic acidemia with homocystinuria, type cblF (LMBRD1 gene, NGS)

  Code 10116 · Next-generation sequencing (NGS)

  Genes: LMBRD1

  Turnaround time: 33 working days

• Mevalonic aciduria, porokeratosis 3, hyper-IgD syndrome (MVK gene, NGS)

  Code 10119 · Next-generation sequencing (NGS)

  Genes: MVK

  Turnaround time: 33 working days

• Molecular testing for alpha thalassemia

  Code 3060 · Cytogenetic analysis

  Genes: HBA1, HBA2

  Turnaround time: 12 working days

• Molecular testing for beta thalassemia

  Code 3061 · Sequencing

  Genes: HBB

  Turnaround time: 24 working days

• Molecular testing for beta thalassemia (amniotic fluid)

  Code 3130 · PCR / Sequencing

  Genes: HBB

  Turnaround time: 16 working days

• Molecular testing for fetal hemoglobinopathies [amniotic fluid]

  Code 3035 · Molecular biology

  Genes: HBA1, HBA2, HBB

  Turnaround time: 24 working days

• Molecular testing for hemochromatosis [EMH] (S65C, C282Y and H63D)

  Code 3016 · Molecular biology

  Genes: HFE

  Turnaround time: 30 working days

• Molecular testing for hemoglobinopathies

  Code 3034 · Molecular biology

  Genes: HBA1, HBA2, HBB

  Turnaround time: 25 working days

• Molecular testing for hemophilia A

  Code 2384 · Molecular hybridization (PCR)

  Genes: F8

  Turnaround time: 33 working days

• Molecular testing for Rh (D) factor

  Code 3241 · PCR

  Genes: Rh(D)

  Turnaround time: 13 working days

• Molecular testing for sickle cell disease [amniotic fluid]

  Code 3050 · Cytogenetic analysis

  Genes: HBB

  Turnaround time: 25 working days

• Molecular testing of the CSF3R gene, T618I mutation (blood)

  Code 3176 · PCR

  Genes: CSF3R Mutação T618I

  Turnaround time: 12 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

• MPL mutation analysis

  Code 3154 · Molecular hybridization (PCR)

  Genes: MPL

  Turnaround time: 10 working days

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

  Code 1911 · Real-time PCR

  Genes: MTHFR

  Turnaround time: 12 working days