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 7 of 7

• Variegate porphyria (PPOX gene, NGS)

  Code 11303 · Next-generation sequencing (NGS)

  Genes: PPOX

  Turnaround time: 33 working days

• von Willebrand disease (VWF gene, NGS)

  Code 3322 · Next-generation sequencing (NGS)

  Genes: VWF

  Turnaround time: 33 working days

• Waardenburg syndrome (PAX3 gene, NGS)

  Code 11355 · Next-generation sequencing (NGS)

  Genes: PAX3

  Turnaround time: 33 working days

• Werner syndrome (WRN gene, NGS)

  Code 11357 · Next-generation sequencing (NGS)

  Genes: WRN

  Turnaround time: 33 working days

• Xeroderma pigmentosum (gene panel, NGS, CNVs)

  Code 3439 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• X-linked anhidrotic ectodermal dysplasia, Christ-Siemens-Touraine syndrome (EDA gene, NGS)

  Code 10678 · Next-generation sequencing (NGS)

  Genes: EDA

  Turnaround time: 33 working days

• X-linked ichthyosis (STS gene, NGS)

  Code 11050 · Next-generation sequencing (NGS)

  Genes: STS

  Turnaround time: 33 working days