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

453 tests · Page 7 of 16

• Exome, complete sequencing

  Code 3208 · Next-generation sequencing (NGS)

  Genes: Exoma

  Turnaround time: 75 working days

• Exome without interpretation (data only), NGS

  Code 3326 · Next-generation sequencing (NGS)

  Genes: Exoma sem análise

  Turnaround time: 33 working days

• Expanded carrier screening, NGS sequencing

  Code 3172 · Next-generation sequencing (NGS)

  Genes: Perfil Feminino: 301 doenças genéticas Perfil Masculino: 277 doenças genéticas

  Turnaround time: 25 working days

• Facial dysostosis (27-gene panel, NGS)

  Code 10746 · Next-generation sequencing (NGS)

  Genes: ALPL, ALX3, ALX4, CHD7, CREBBP, DHODH, DLL3, EFNB1 and 19 more

  Turnaround time: 33 working days

• Factor V Leiden gene mutation (1691G>A mutation)

  Code 908 · PCR

  Genes: F5

  Turnaround time: 8 working days

• Fanconi anemia (18-gene panel, NGS)

  Code 10253 · Next-generation sequencing (NGS)

  Genes: BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2 and 10 more

  Turnaround time: 33 working days

• Fanconi anemia (BRIP1 gene, NGS)

  Code 10243 · Next-generation sequencing (NGS)

  Genes: BRIP1

  Turnaround time: 33 working days

• Fanconi anemia (FANCA gene, NGS)

  Code 10239 · Next-generation sequencing (NGS)

  Genes: FANCA

  Turnaround time: 33 working days

• Fanconi anemia (FANCB gene, NGS)

  Code 10247 · Next-generation sequencing (NGS)

  Genes: FANCB

  Turnaround time: 33 working days

• Fanconi anemia (FANCC gene, NGS)

  Code 10240 · Next-generation sequencing (NGS)

  Genes: FANCC

  Turnaround time: 33 working days

• Fanconi anemia (FANCE gene, NGS)

  Code 10248 · Next-generation sequencing (NGS)

  Genes: FANCE

  Turnaround time: 33 working days

• Fanconi anemia (FANCF gene, NGS)

  Code 10249 · Next-generation sequencing (NGS)

  Genes: FANCF

  Turnaround time: 33 working days

• Fanconi anemia (FANCG gene, NGS)

  Code 10252 · Next-generation sequencing (NGS)

  Genes: FANCG

  Turnaround time: 33 working days

• Fanconi anemia (FANCI gene, NGS)

  Code 10242 · Next-generation sequencing (NGS)

  Genes: FANCI

  Turnaround time: 33 working days

• Fanconi anemia (FANCL gene, NGS)

  Code 10244 · Next-generation sequencing (NGS)

  Genes: FANCL

  Turnaround time: 33 working days

• Fanconi anemia (FANCM gene, NGS)

  Code 10245 · Next-generation sequencing (NGS)

  Genes: FANCM

  Turnaround time: 33 working days

• Fanconi anemia (PALB2 gene, NGS)

  Code 10246 · Next-generation sequencing (NGS)

  Genes: PALB2

  Turnaround time: 33 working days

• Fanconi anemia (RAD51C gene, NGS)

  Code 10250 · Next-generation sequencing (NGS)

  Genes: RAD51C

  Turnaround time: 33 working days

• Fanconi anemia (SLX4 gene, NGS)

  Code 10251 · Next-generation sequencing (NGS)

  Genes: SLX4

  Turnaround time: 33 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

• Fetal RhD testing

  Code 3031 · Molecular biology

  Genes: Rh Fetal

  Turnaround time: 7 working days

• Fetal sex determination

  Code 3025 · Molecular biology

  Genes: Sexo fetal

  Turnaround time: 7 working days

• FGFR3 gene mutation testing (achondroplasia)

  Code 3079 · Sequencing

  Genes: FGFR3

  Turnaround time: 33 working days

• FGFR3 gene testing (sequencing)

  Code 3375 · Sequencing

  Genes: FGFR3

  Turnaround time: 33 working days

• Fibrodysplasia ossificans progressiva (ACVR1 gene, NGS)

  Code 10922 · Next-generation sequencing (NGS)

  Genes: ACVR1

  Turnaround time: 33 working days

• Fibular aplasia and complex brachydactyly (Du Pan syndrome) (GDF5 gene, NGS)

  Code 10285 · Next-generation sequencing (NGS)

  Genes: GDF5

  Turnaround time: 33 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

• FISH - XY centromeric probes (sex chromosomes)

  Code 3026 · Molecular hybridization / PCR

  Genes: FISH

  Turnaround time: 17 working days