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 13 of 16

• Osteogenesis imperfecta type IIB (CRTAP gene, NGS)

  Code 11221 · Next-generation sequencing (NGS)

  Genes: CRTAP

  Turnaround time: 33 working days

• Osteogenesis imperfecta, type IX (PPIB gene, NGS)

  Code 11224 · Next-generation sequencing (NGS)

  Genes: PPIB

  Turnaround time: 33 working days

• Osteogenesis imperfecta type V (IFITM5 gene, NGS)

  Code 11053 · Next-generation sequencing (NGS)

  Genes: IFITM5

  Turnaround time: 33 working days

• Osteogenesis imperfecta type VIII (IFITM5 gene, NGS)

  Code 11223 · Next-generation sequencing (NGS)

  Genes: IFITM5

  Turnaround time: 33 working days

• Osteogenesis imperfecta type VIII (P3H1 gene, NGS)

  Code 11222 · Next-generation sequencing (NGS)

  Genes: P3H1

  Turnaround time: 33 working days

• Osteogenesis imperfecta, type XI (FKBP10 gene, NGS)

  Code 11225 · Next-generation sequencing (NGS)

  Genes: FKBP10

  Turnaround time: 33 working days

• Osteopetrosis and high bone density disorders (29-gene panel, NGS)

  Code 11232 · Next-generation sequencing (NGS)

  Genes: AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DLX3, FAM20C and 21 more

  Turnaround time: 33 working days

• Osteopetrosis, autosomal recessive type 5 (OSTM1 gene, NGS)

  Code 11229 · Next-generation sequencing (NGS)

  Genes: OSTM1

  Turnaround time: 33 working days

• Otofaciocervical syndrome (EYA1 gene, NGS)

  Code 11233 · Next-generation sequencing (NGS)

  Genes: EYA1

  Turnaround time: 33 working days

• Otopalatodigital syndrome type 2 (FLNA gene, NGS)

  Code 11234 · Next-generation sequencing (NGS)

  Genes: FLNA

  Turnaround time: 33 working days

• Ovarian dysgenesis (BMP15 gene, NGS)

  Code 10645 · Next-generation sequencing (NGS)

  Genes: BMP15

  Turnaround time: 33 working days

• Ovarian dysgenesis (FSHR gene, NGS)

  Code 10644 · Next-generation sequencing (NGS)

  Genes: FSHR

  Turnaround time: 33 working days

• PAI-1 gene mutations

  Code 3029 · Sequencing

  Genes: PAI1

  Turnaround time: 33 working days

• Partial androgen insensitivity syndrome (AR gene, NGS)

  Code 3307 · Next-generation sequencing (NGS)

  Genes: AR

  Turnaround time: 33 working days

• Paternity test (father, mother and child) - 3 samples

  Code 3000 · Cytogenetic analysis

  Genes: Teste de Paternidade

  Turnaround time: 33 working days

• Paternity test (father or mother and child) - 2 samples

  Code 3018 · Cytogenetic analysis

  Genes: Teste de Paternidade

  Turnaround time: 33 working days

• Pendred syndrome (SLC26A4 gene, NGS)

  Code 11282 · Next-generation sequencing (NGS)

  Genes: SLC26A4

  Turnaround time: 33 working days

• Periventricular nodular heterotopia (ARFGEF2 gene, NGS)

  Code 10979 · Next-generation sequencing (NGS)

  Genes: ARFGEF2

  Turnaround time: 33 working days

• Perlman syndrome (DIS3L2 gene, NGS)

  Code 11284 · Next-generation sequencing (NGS)

  Genes: DIS3L2

  Turnaround time: 33 working days

• Peters anomaly (PAX6 gene, NGS)

  Code 11285 · Next-generation sequencing (NGS)

  Genes: PAX6

  Turnaround time: 33 working days

• Peters anomaly (PITX2 gene, NGS)

  Code 11286 · Next-generation sequencing (NGS)

  Genes: PITX2

  Turnaround time: 33 working days

• Peters-plus syndrome (B3GLCT gene, NGS)

  Code 11287 · Next-generation sequencing (NGS)

  Genes: B3GLCT

  Turnaround time: 33 working days

• Pharmacogenetics of coumarin anticoagulants (CYP2C9 and VKORC1 genes)

  Code 3350 · Real-time PCR

  Genes: CYP2C9, VKORC1

  Turnaround time: 33 working days

• Piebaldism (KIT gene, NGS)

  Code 11291 · Next-generation sequencing (NGS)

  Genes: KIT

  Turnaround time: 33 working days

• Pitt-Hopkins syndrome (TCF4 gene, NGS)

  Code 11293 · Next-generation sequencing (NGS)

  Genes: TCF4

  Turnaround time: 33 working days

• Polymicrogyria (17-gene panel, NGS)

  Code 11300 · Next-generation sequencing (NGS)

  Genes: ADGRG1, AKT3, FH, GPSM2, KIF1BP, KRT6A, LAMC3, NDE1 and 9 more

  Turnaround time: 33 working days

• Postaxial acrofacial dysostosis - Miller syndrome (DHODH gene, NGS)

  Code 10661 · Next-generation sequencing (NGS)

  Genes: DHODH

  Turnaround time: 33 working days

• Preauricular tags (36-gene panel, NGS)

  Code 11309 · Next-generation sequencing (NGS)

  Genes: ALX3, ANKRD11, APRT, ARID1B, B3GLCT, BCOR, CCDC22, CDK5RAP2 and 28 more

  Turnaround time: 33 working days

• Prenatal CGH microarray

  Code 3071 · Comparative genomic hybridization

  Genes: CGH

  Turnaround time: 30 working days

• Primary microcephaly (CDK5RAP2 gene, NGS)

  Code 11125 · Next-generation sequencing (NGS)

  Genes: CDK5RAP2

  Turnaround time: 33 working days