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

488 tests · Page 17 of 17

• Wolfram syndrome, sequencing (WFS1 gene)

  Code 3217 · Sanger sequencing

  Genes: WFS1

  Turnaround time: 23 working days

• X-linked dominant chondrodysplasia punctata (EBP gene, NGS)

  Code 10502 · Next-generation sequencing (NGS)

  Genes: EBP

  Turnaround time: 33 working days

• X-linked hydrocephalus (L1CAM gene, NGS)

  Code 10983 · Next-generation sequencing (NGS)

  Genes: L1CAM

  Turnaround time: 33 working days

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

  Code 11334 · Next-generation sequencing (NGS)

  Genes: PHEX

  Turnaround time: 33 working days

• X-linked lissencephaly (DCX gene, NGS)

  Code 11108 · Next-generation sequencing (NGS)

  Genes: DCX

  Turnaround time: 33 working days

• X-linked periventricular heterotopia (FLNA gene, NGS)

  Code 10980 · Next-generation sequencing (NGS)

  Genes: FLNA

  Turnaround time: 33 working days

• X-linked recessive chondrodysplasia punctata (ARSE gene, NGS)

  Code 10500 · Next-generation sequencing (NGS)

  Genes: ARSE

  Turnaround time: 33 working days

• X-linked spondyloepiphyseal dysplasia (TRAPPC2 gene, NGS)

  Code 10685 · Next-generation sequencing (NGS)

  Genes: TRAPPC2

  Turnaround time: 33 working days