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

774 tests · Page 12 of 26

• Floating-Harbor syndrome (SRCAP gene, NGS)

  Code 10915 · Next-generation sequencing (NGS)

  Genes: SRCAP

  Turnaround time: 33 working days

• Fragile X syndrome

  Code 3023 · Molecular biology

  Genes: FMR1, PCR convencional

  Turnaround time: 31 working days

• Friedreich ataxia (FXN gene, NGS)

  Code 10302 · Next-generation sequencing (NGS)

  Genes: FXN

  Turnaround time: 33 working days

• Frontonasal dysplasia type 1 (ALX3 gene, NGS)

  Code 10691 · Next-generation sequencing (NGS)

  Genes: ALX3

  Turnaround time: 33 working days

• Frontotemporal dementia (16-gene panel, NGS)

  Code 10009 · Next-generation sequencing (NGS)

  Genes: CHCHD10, CHMP2B, CSF1R, FTL, FUS, GRN, MAPT, PRNP and 8 more

  Turnaround time: 33 working days

• Frontotemporal dementia (27-gene panel, NGS)

  Code 3226 · Next-generation sequencing (NGS)

  Genes: APP, CHCHD10, CHMP2B, CSF1R, DCTN1, DNAJC5, DNMT1, EPM2A and 19 more

  Turnaround time: 53 working days

• Frontotemporal dementia/ALS, GGGGCC (C9orf72 gene, TP-PCR)

  Code 3266 · PCR / Fragment analysis

  Genes: GGGGCC (gene C9orf72, TP-PCR)

  Turnaround time: 28 working days

• Frontotemporal dementia, point mutation (familial case)

  Code 3109 · Sequencing

  Genes: Mutação Pontual

  Turnaround time: 33 working days

• Frontotemporal dementia, sequencing (MAPT gene)

  Code 3107 · Sequencing

  Genes: MAPT

  Turnaround time: 48 working days

• Frontotemporal dementia, sequencing (PGRN gene)

  Code 3108 · Sequencing

  Genes: PGRN

  Turnaround time: 48 working days

• Frontotemporal dementias (GRN gene, NGS)

  Code 10614 · Next-generation sequencing (NGS)

  Genes: GRN

  Turnaround time: 33 working days

• Frontotemporal dementias (MAPT gene, NGS)

  Code 10616 · Next-generation sequencing (NGS)

  Genes: MAPT

  Turnaround time: 33 working days

• Frontotemporal dementias (TARDBP gene, NGS)

  Code 10615 · Next-generation sequencing (NGS)

  Genes: TARDBP

  Turnaround time: 33 working days

• Frontotemporal dementia with amyotrophic lateral sclerosis (ALS) (C9orf72 gene, NGS)

  Code 10613 · Next-generation sequencing (NGS)

  Genes: C9orf72

  Turnaround time: 33 working days

• Frontotemporal dementia with amyotrophic lateral sclerosis (ALS) (FUS gene, NGS)

  Code 10612 · Next-generation sequencing (NGS)

  Genes: FUS

  Turnaround time: 33 working days

• Frontotemporal dementia with motor neuron disease (SQSTM1 gene, NGS)

  Code 10611 · Next-generation sequencing (NGS)

  Genes: SQSTM1

  Turnaround time: 33 working days

• Fructose-1,6-bisphosphatase deficiency (FBP1 gene, NGS)

  Code 10575 · Next-generation sequencing (NGS)

  Genes: FBP1

  Turnaround time: 33 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

• Galactokinase deficiency (GALK1 gene, NGS)

  Code 10576 · Next-generation sequencing (NGS)

  Genes: GALK1

  Turnaround time: 33 working days

• Galactose epimerase deficiency (GALE gene, NGS)

  Code 10577 · Next-generation sequencing (NGS)

  Genes: GALE

  Turnaround time: 33 working days

• GAPO syndrome (ANTXR1 gene, NGS)

  Code 10932 · Next-generation sequencing (NGS)

  Genes: ANTXR1

  Turnaround time: 33 working days

• Generalized epilepsy with febrile seizures plus (GEFS+) (GABRD gene, NGS)

  Code 10881 · Next-generation sequencing (NGS)

  Genes: GABRD

  Turnaround time: 33 working days

• Generalized epilepsy with febrile seizures plus (GEFS+) (GABRG2 gene, NGS)

  Code 10882 · Next-generation sequencing (NGS)

  Genes: GABRG2

  Turnaround time: 33 working days

• Generalized epilepsy with febrile seizures plus (GEFS+) (SCN1B gene, NGS)

  Code 10880 · Next-generation sequencing (NGS)

  Genes: SCN1B

  Turnaround time: 33 working days

• Generalized epilepsy with febrile seizures plus (GEFS+) (SCN9A gene, NGS)

  Code 10879 · Next-generation sequencing (NGS)

  Genes: SCN9A

  Turnaround time: 33 working days

• Genetic abnormalities of thrombomodulin (THBD gene, NGS)

  Code 10281 · Next-generation sequencing (NGS)

  Genes: THBD

  Turnaround time: 33 working days

• Genetic diagnostic panel (NGS)

  Code 11241 · Next-generation sequencing (NGS)

  Genes: PAIdo

  Turnaround time: 33 working days

• Genetic testing for Duchenne muscular dystrophy

  Code 3070 · MLPA / PCR

  Genes: DMD

  Turnaround time: 93 working days

• Genetic testing for familial Mediterranean fever (MEFV gene)

  Code 3117 · MLPA / PCR

  Genes: MEFV

  Turnaround time: 33 working days