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

488 tests · Page 8 of 17

• 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 karyotype (amniotic fluid cells)

  Code 1690 · Cytogenetic analysis

  Genes: Cariótipo

  Turnaround time: 12 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

• FH gene testing (sequencing)

  Code 3406 · Sequencing

  Genes: FH

  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

• Floating-Harbor syndrome (SRCAP gene, NGS)

  Code 10915 · Next-generation sequencing (NGS)

  Genes: SRCAP

  Turnaround time: 33 working days

• Focal dermal hypoplasia (PORCN gene, NGS)

  Code 11018 · Next-generation sequencing (NGS)

  Genes: PORCN

  Turnaround time: 33 working days

• FOXL2 gene testing (MLPA)

  Code 3508 · MLPA

  Genes: FOXL2

  Turnaround time: 28 working days

• Fragile X syndrome

  Code 3023 · Molecular biology

  Genes: FMR1, PCR convencional

  Turnaround time: 31 working days

• Frontonasal dysplasia type 1 (ALX3 gene, NGS)

  Code 10691 · Next-generation sequencing (NGS)

  Genes: ALX3

  Turnaround time: 33 working days

• Frontonasal dysplasia type 2 (ALX4 gene, NGS)

  Code 10692 · Next-generation sequencing (NGS)

  Genes: ALX4

  Turnaround time: 33 working days

• Frontonasal dysplasia type 3 (ALX1 gene, NGS)

  Code 10693 · Next-generation sequencing (NGS)

  Genes: ALX1

  Turnaround time: 33 working days

• Galactosialidosis (CTSA gene, NGS)

  Code 10930 · Next-generation sequencing (NGS)

  Genes: CTSA

  Turnaround time: 33 working days

• GAPO syndrome (ANTXR1 gene, NGS)

  Code 10932 · Next-generation sequencing (NGS)

  Genes: ANTXR1

  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

• Geleophysic dysplasia (ADAMTSL2 gene, NGS)

  Code 10694 · Next-generation sequencing (NGS)

  Genes: ADAMTSL2

  Turnaround time: 33 working days

• Generalized arterial calcification of infancy (ENPP1 gene, NGS)

  Code 10407 · Next-generation sequencing (NGS)

  Genes: ENPP1

  Turnaround time: 33 working days

• Genetic testing (2 genes, NGS, CNVs)

  Code 3402 · Next-generation sequencing (NGS) + CNVs

  Turnaround time: 30 working days

• Genetic testing for protein S

  Code 3053 · Cytogenetic analysis

  Genes: PROS1

  Turnaround time: 3 months

• 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