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

617 tests · Page 21 of 21

• Von Hippel-Lindau syndrome (VHL) in blood

  Code 3027 · Sequencing

  Genes: VHL

  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

• Weaver syndrome (EZH2 gene, NGS)

  Code 11356 · Next-generation sequencing (NGS)

  Genes: EZH2

  Turnaround time: 33 working days

• Werner syndrome (WRN gene, NGS)

  Code 11357 · Next-generation sequencing (NGS)

  Genes: WRN

  Turnaround time: 33 working days

• Wilson disease (ATP7B gene, NGS)

  Code 4240 · Next-generation sequencing (NGS)

  Genes: ATP7B

  Turnaround time: 30 working days

• Wolff-Parkinson-White (WPW) syndrome (PRKAG2 gene, NGS)

  Code 11360 · Next-generation sequencing (NGS)

  Genes: PRKAG2

  Turnaround time: 33 working days

• Wolfram syndrome / autosomal dominant hearing loss 6/14/38 (WFS1 gene, NGS)

  Code 11359 · Next-generation sequencing (NGS)

  Genes: WFS1

  Turnaround time: 33 working days

• Wolfram syndrome, sequencing (WFS1 gene)

  Code 3217 · Sanger sequencing

  Genes: WFS1

  Turnaround time: 23 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 Asperger syndrome (NLGN3 gene, NGS)

  Code 10296 · Next-generation sequencing (NGS)

  Genes: NLGN3

  Turnaround time: 33 working days

• X-linked Charcot-Marie-Tooth disease (GJB1 gene, NGS)

  Code 10469 · Next-generation sequencing (NGS)

  Genes: GJB1

  Turnaround time: 33 working days

• X-linked Charcot-Marie-Tooth disease (GJB1 gene, sequencing)

  Code 3336 · Sanger sequencing

  Genes: GJB1

  Turnaround time: 30 working days

• X-linked Charcot-Marie-Tooth disease type 5 (PRPS1 gene, NGS)

  Code 10470 · Next-generation sequencing (NGS)

  Genes: PRPS1

  Turnaround time: 33 working days

• X-linked dominant hypophosphatemic rickets (PHEX gene, NGS)

  Code 11328 · Next-generation sequencing (NGS)

  Genes: PHEX

  Turnaround time: 33 working days

• X-linked idiopathic short stature (SHOX gene, NGS)

  Code 10347 · Next-generation sequencing (NGS)

  Genes: SHOX

  Turnaround time: 33 working days

• Zinc transporter protein mutation

  Code 3041 · Cytogenetic analysis

  Genes: SLC30A2

  Turnaround time: 100 working days