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 8 of 16

• 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

• 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 characterization

  Code 3149 · Cytogenetic analysis

  Turnaround time: 33 working days

• Genetic risk factors associated with arterial hypertension

  Code 3103 · DNA microchip

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 13 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

• GLOW syndrome (tissue mosaicism) (DICER1 gene, NGS)

  Code 10062 · Next-generation sequencing (NGS)

  Genes: DICER1

  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

• Gonadal dysgenesis (XY female) (Swyer syndrome) (DHH gene, NGS)

  Code 10655 · Next-generation sequencing (NGS)

  Genes: DHH

  Turnaround time: 33 working days

• Gonadal dysgenesis (XY female) (Swyer syndrome) (NR5A1 gene, NGS)

  Code 10656 · Next-generation sequencing (NGS)

  Genes: NR5A1

  Turnaround time: 33 working days

• Gorlin syndrome (PTCH1 gene, NGS)

  Code 10952 · Next-generation sequencing (NGS)

  Genes: PTCH1

  Turnaround time: 33 working days

• Gorlin syndrome (SUFU gene, NGS)

  Code 10951 · Next-generation sequencing (NGS)

  Genes: SUFU

  Turnaround time: 33 working days

• Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, postaxial polydactyly types A and B, and preaxial polydactyly type IV (GLI3 gene, NGS)

  Code 10098 · Next-generation sequencing (NGS)

  Genes: GLI3

  Turnaround time: 33 working days

• Harmony Prenatal Test

  Code 2453 · Direct analysis of cell-free DNA (cfDNA)

  Turnaround time: 15 working days

• Harmony Prenatal Test (22q11.2 microdeletion)

  Code 5352 · Direct analysis of cell-free DNA (cfDNA)

  Turnaround time: 15 working days

• Harmony Prenatal Test (monosomy X)

  Code 2825 · Direct analysis of cell-free DNA (cfDNA)

  Turnaround time: 15 working days

• Harmony Prenatal Test (trisomies only)

  Code 2632 · Direct analysis of cell-free DNA (cfDNA)

  Turnaround time: 15 working days

• Harmony Prenatal Test (with fetal sex)

  Code 2633 · Direct analysis of cell-free DNA (cfDNA)

  Turnaround time: 15 working days

• Hermansky-Pudlak syndrome (18-gene panel, NGS)

  Code 11354 · Next-generation sequencing (NGS)

  Genes: ABCA3, AP3B1, BLOC1S6, DTNBP1, ELMOD2, HPS1, HPS3, HPS4 and 10 more

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (19-gene panel, NGS)

  Code 10081 · Next-generation sequencing (NGS)

  Genes: ABCA3, AP3B1, BLOC1S3, BLOC1S6, DTNBP1, ELMOD2, HPS1, HPS3 and 11 more

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (BLOC1S3 gene, NGS)

  Code 10970 · Next-generation sequencing (NGS)

  Genes: BLOC1S3

  Turnaround time: 33 working days