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

187 tests · Page 1 of 7

• Acquired partial lipodystrophy (Barraquer-Simons syndrome) (LMNB2 gene, NGS)

  Code 11094 · Next-generation sequencing (NGS)

  Genes: LMNB2

  Turnaround time: 33 working days

• Acral peeling skin syndrome (TGM5 gene, NGS)

  Code 10624 · Next-generation sequencing (NGS)

  Genes: TGM5

  Turnaround time: 33 working days

• Adams-Oliver syndrome (8-gene panel, NGS)

  Code 10160 · Next-generation sequencing (NGS)

  Genes: ARHGAP31, DLL4, DOCK6, EOGT, KCTD1, NOTCH1, RBPJ, UBR1

  Turnaround time: 33 working days

• Adams-Oliver syndrome (ARHGAP31 gene, NGS)

  Code 10155 · Next-generation sequencing (NGS)

  Genes: ARHGAP31

  Turnaround time: 33 working days

• Adams-Oliver syndrome (DOCK6 gene, NGS)

  Code 10156 · Next-generation sequencing (NGS)

  Genes: DOCK6

  Turnaround time: 33 working days

• Albinism, isolated and syndromic forms (18-gene panel, NGS)

  Code 10194 · Next-generation sequencing (NGS)

  Genes: GPR143, OCA2, SLC45A2, TYRP1, MC1R, SLC24A5, LYST, HPS1 and 10 more

  Turnaround time: 33 working days

• Allgrove syndrome (AAAS gene, NGS)

  Code 10208 · Next-generation sequencing (NGS)

  Genes: AAAS

  Turnaround time: 33 working days

• Alopecia universalis (HR gene, NGS)

  Code 10210 · Next-generation sequencing (NGS)

  Genes: HR

  Turnaround time: 33 working days

• Anhidrotic ectodermal dysplasia with immunodeficiency (NFKBIA gene, NGS)

  Code 10676 · Next-generation sequencing (NGS)

  Genes: NFKBIA

  Turnaround time: 33 working days

• Aortopathies and connective tissue disorders (WES-based panel, NGS, CNVs)

  Code 3459 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations, FGFR2 gene sequencing

  Code 10284 · Next-generation sequencing (NGS)

  Genes: FGFR2

  Turnaround time: 33 working days

• Autosomal anhidrotic ectodermal dysplasia (EDARADD gene, NGS)

  Code 10675 · Next-generation sequencing (NGS)

  Genes: EDARADD

  Turnaround time: 33 working days

• Autosomal anhidrotic ectodermal dysplasia (EDAR gene, NGS)

  Code 10674 · Next-generation sequencing (NGS)

  Genes: EDAR

  Turnaround time: 33 working days

• Autosomal dominant cutis laxa type 1 (ELN gene, NGS)

  Code 10335 · Next-generation sequencing (NGS)

  Genes: ELN

  Turnaround time: 33 working days

• Autosomal dominant cutis laxa type 2 (FBLN5 gene, NGS)

  Code 10336 · Next-generation sequencing (NGS)

  Genes: FBLN5

  Turnaround time: 33 working days

• Autosomal dominant ichthyosis vulgaris (FLG gene, NGS)

  Code 11051 · Next-generation sequencing (NGS)

  Genes: FLG

  Turnaround time: 33 working days

• Autosomal recessive congenital ichthyosis (ABCA12 gene, NGS)

  Code 11045 · Next-generation sequencing (NGS)

  Genes: ABCA12

  Turnaround time: 33 working days

• Autosomal recessive congenital ichthyosis (ALOX12B gene, NGS)

  Code 11040 · Next-generation sequencing (NGS)

  Genes: ALOX12B

  Turnaround time: 33 working days

• Autosomal recessive congenital ichthyosis (ALOXE3 gene, NGS)

  Code 11041 · Next-generation sequencing (NGS)

  Genes: ALOXE3

  Turnaround time: 33 working days

• Autosomal recessive congenital ichthyosis (CYP4F22 gene, NGS)

  Code 11043 · Next-generation sequencing (NGS)

  Genes: CYP4F22

  Turnaround time: 33 working days

• Autosomal recessive congenital ichthyosis (NIPAL4 gene, NGS)

  Code 11042 · Next-generation sequencing (NGS)

  Genes: NIPAL4

  Turnaround time: 33 working days

• Autosomal recessive congenital ichthyosis (PNPLA1 gene, NGS)

  Code 11044 · Next-generation sequencing (NGS)

  Genes: PNPLA1

  Turnaround time: 33 working days

• Autosomal recessive congenital ichthyosis (TGM1 gene, NGS)

  Code 11046 · Next-generation sequencing (NGS)

  Genes: TGM1

  Turnaround time: 33 working days

• Autosomal recessive cutis laxa type 1B (EFEMP2 gene, NGS)

  Code 10338 · Next-generation sequencing (NGS)

  Genes: EFEMP2

  Turnaround time: 33 working days

• Autosomal recessive cutis laxa type 1C (LTBP4 gene, NGS)

  Code 10339 · Next-generation sequencing (NGS)

  Genes: LTBP4

  Turnaround time: 33 working days

• Autosomal recessive cutis laxa type 2A (ATP6V0A2 gene, NGS)

  Code 10340 · Next-generation sequencing (NGS)

  Genes: ATP6V0A2

  Turnaround time: 33 working days

• Autosomal recessive cutis laxa type 2B (PYCR1 gene, NGS)

  Code 10341 · Next-generation sequencing (NGS)

  Genes: PYCR1

  Turnaround time: 33 working days

• Autosomal recessive cutis laxa type 3A (ALDH18A1 gene, NGS)

  Code 10342 · Next-generation sequencing (NGS)

  Genes: ALDH18A1

  Turnaround time: 33 working days

• Autosomal recessive retinitis pigmentosa (EYS gene, NGS)

  Code 10092 · Next-generation sequencing (NGS)

  Genes: EYS

  Turnaround time: 33 working days

• Bartsocas-Papas syndrome (RIPK4 gene, NGS)

  Code 10362 · Next-generation sequencing (NGS)

  Genes: RIPK4

  Turnaround time: 33 working days