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

197 tests · Page 3 of 7

• Familial Hibernian fever (periodic fever, autosomal dominant) (TNFRSF1A gene, NGS)

  Code 10912 · Next-generation sequencing (NGS)

  Genes: TNFRSF1A

  Turnaround time: 33 working days

• Familial intrahepatic cholestasis (gene panel, NGS)

  Code 3379 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 20 working days

• Familial Mediterranean fever (MEFV gene, NGS)

  Code 10913 · Next-generation sequencing (NGS)

  Genes: MEFV

  Turnaround time: 33 working days

• Familial variant testing (Sanger) - APC gene

  Code 4165 · Sanger sequencing

  Genes: APC

  Turnaround time: 15 working days

• Familial variant testing (Sanger) - BRAF gene

  Code 4158 · Sanger sequencing

  Genes: BRAF

  Turnaround time: 15 working days

• Familial variant testing (Sanger) - CDH1 gene

  Code 4155 · Sanger sequencing

  Genes: CDH1

  Turnaround time: 15 working days

• Fanconi-Bickel syndrome (SLC2A2 gene, NGS)

  Code 10919 · Next-generation sequencing (NGS)

  Genes: SLC2A2

  Turnaround time: 33 working days

• Feingold syndrome (MYCN gene, NGS)

  Code 10920 · Next-generation sequencing (NGS)

  Genes: MYCN

  Turnaround time: 33 working days

• FoodHealth

  Code 3341 · DNA microchip

  Genes: 102 variantes genéticas, presentes em 75 genes, e 18 parâmetros bioquímicos

  Turnaround time: 15 working days

• Fumaric aciduria, c1431_1433dupAAA mutation, FH gene

  Code 10127 · Next-generation sequencing (NGS)

  Genes: FH

  Turnaround time: 33 working days

• Fumaric aciduria (FH gene, NGS)

  Code 10128 · Next-generation sequencing (NGS)

  Genes: FH

  Turnaround time: 33 working days

• Galactose epimerase deficiency (GALE gene, NGS)

  Code 10577 · Next-generation sequencing (NGS)

  Genes: GALE

  Turnaround time: 33 working days

• Galactosemia (GALT gene, NGS)

  Code 10929 · Next-generation sequencing (NGS)

  Genes: GALT

  Turnaround time: 33 working days

• Gastrointestinal atresia (13-gene panel, NGS)

  Code 10169 · Next-generation sequencing (NGS)

  Genes: CHD7, CLMP, DHCR7, EFTUD2, FANCB, FANCC, GLI3, MID1 and 5 more

  Turnaround time: 33 working days

• Gastrointestinal tumor (KIT and PDGFRA genes, sequencing)

  Code 3222 · Sanger sequencing

  Genes: Gene KIT exões (9, 11, 13, 17), Gene PDGFRA exões (12,18)

  Turnaround time: 33 working days

• Genetic testing for intrahepatic cholestasis (ABCB4)

  Code 3114 · Sequencing

  Genes: ABCB4

  Turnaround time: 53 working days

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

  Code 4215 · NGS, Sanger sequencing

  Genes: APC

  Turnaround time: 30 working days

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

  Code 4208 · NGS, Sanger sequencing

  Genes: BRAF

  Turnaround time: 30 working days

• Genetic testing of the NTHL1 gene (NGS, Sanger)

  Code 4233 · NGS, Sanger sequencing

  Genes: NTHL1

  Turnaround time: 30 working days

• Gilbert syndrome (UGT1A1 gene, NGS)

  Code 10934 · Next-generation sequencing (NGS)

  Genes: UGT1A1

  Turnaround time: 33 working days

• Gitelman syndrome (2-gene panel, NGS)

  Code 10936 · Next-generation sequencing (NGS)

  Genes: SLC12A3, CLCNKB

  Turnaround time: 33 working days

• Gitelman syndrome (SLC12A3 gene, NGS)

  Code 10935 · Next-generation sequencing (NGS)

  Genes: SLC12A3

  Turnaround time: 33 working days

• Glycogen metabolism disorders (34-gene panel, NGS)

  Code 10174 · Next-generation sequencing (NGS)

  Genes: AGL, ALDOA, ENO3, EPM2A, FBP1, FBP2, G6PC, GAA and 26 more

  Turnaround time: 33 working days

• GM1 gangliosidosis type 1 (GLB1 gene, NGS)

  Code 10931 · Next-generation sequencing (NGS)

  Genes: GLB1

  Turnaround time: 33 working days

• GutHealth - Gut microbiome (NGS)

  Code 3286 · Next-generation sequencing (NGS)

  Genes: GutHealth - Microbioma Intestinal (NGS)

  Turnaround time: 15 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

• Hemochromatosis (HFE gene, NGS)

  Code 10981 · Next-generation sequencing (NGS)

  Genes: HFE

  Turnaround time: 33 working days

• Hereditary angioedema (2-gene panel, NGS)

  Code 10187 · Next-generation sequencing (NGS)

  Genes: F12, SERPING1

  Turnaround time: 33 working days

• Hereditary angioedema (F12 gene, NGS)

  Code 10275 · Next-generation sequencing (NGS)

  Genes: F12

  Turnaround time: 33 working days

• Hereditary angioedema (SERPING1 gene, NGS)

  Code 10274 · Next-generation sequencing (NGS)

  Genes: SERPING1

  Turnaround time: 33 working days