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

221 tests · Page 8 of 8

• Tuberous sclerosis complex (TSC1 gene, NGS)

  Code 10906 · Next-generation sequencing (NGS)

  Genes: TSC1

  Turnaround time: 33 working days

• Tuberous sclerosis complex (TSC2 gene, NGS)

  Code 10905 · Next-generation sequencing (NGS)

  Genes: TSC2

  Turnaround time: 33 working days

• Usher syndrome (20-gene panel, NGS)

  Code 10079 · Next-generation sequencing (NGS)

  Genes: ABHD12, GPR98, ARSG, CDH23, CIB2, CLRN1, COL4A6, GIPC3 and 12 more

  Turnaround time: 33 working days

• Vitelliform macular dystrophy - adult form (PRPH2 gene, NGS)

  Code 10757 · Next-generation sequencing (NGS)

  Genes: PRPH2

  Turnaround time: 33 working days

• Vitelliform macular dystrophy (BEST1 gene, NGS)

  Code 10756 · Next-generation sequencing (NGS)

  Genes: BEST1

  Turnaround time: 33 working days

• Vitelliform macular dystrophy type 2 (BEST1 gene, NGS)

  Code 3308 · Next-generation sequencing (NGS)

  Genes: BEST1

  Turnaround time: 33 working days

• Von Hippel-Lindau syndrome (VHL gene, NGS)

  Code 11353 · Next-generation sequencing (NGS)

  Genes: VHL

  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

• 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

• X-linked idiopathic congenital nystagmus (FRMD7 gene, NGS)

  Code 11184 · Next-generation sequencing (NGS)

  Genes: FRMD7

  Turnaround time: 33 working days