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 18 of 21

• Paroxysmal exercise-induced dyskinesia (SLC2A1 gene, NGS)

  Code 10729 · Next-generation sequencing (NGS)

  Genes: SLC2A1

  Turnaround time: 33 working days

• Partial androgen insensitivity syndrome (AR gene, NGS)

  Code 3307 · Next-generation sequencing (NGS)

  Genes: AR

  Turnaround time: 33 working days

• Partington syndrome (ARX gene, NGS)

  Code 11279 · Next-generation sequencing (NGS)

  Genes: ARX

  Turnaround time: 33 working days

• PAX6 gene testing (MLPA)

  Code 3526 · MLPA

  Genes: PAX6

  Turnaround time: 33 working days

• PAX6 gene testing (NGS)

  Code 3525 · Next-generation sequencing (NGS)

  Genes: PAX6

  Turnaround time: 33 working days

• PDGFR-beta mutation analysis

  Code 3214 · Fluorescence in situ hybridization (FISH)

  Genes: PDGFR-Beta

  Turnaround time: 10 working days

• PDGFR-beta mutation analysis (bone marrow)

  Code 3082 · Fluorescence in situ hybridization (FISH)

  Genes: PDGFR-Beta

  Turnaround time: 10 working days

• Pendred syndrome (SLC26A4 gene, NGS)

  Code 11282 · Next-generation sequencing (NGS)

  Genes: SLC26A4

  Turnaround time: 33 working days

• Perlman syndrome (DIS3L2 gene, NGS)

  Code 11284 · Next-generation sequencing (NGS)

  Genes: DIS3L2

  Turnaround time: 33 working days

• Perrault syndrome type 3 (CLPP gene, NGS)

  Code 11277 · Next-generation sequencing (NGS)

  Genes: CLPP

  Turnaround time: 33 working days

• Peters-plus syndrome (B3GLCT gene, NGS)

  Code 11287 · Next-generation sequencing (NGS)

  Genes: B3GLCT

  Turnaround time: 33 working days

• Peutz-Jeghers syndrome - STK11 gene

  Code 4010 · NGS, Sanger sequencing, MLPA

  Genes: STK11

  Turnaround time: 30 working days

• Peutz-Jeghers syndrome (STK11 gene, NGS)

  Code 11288 · Next-generation sequencing (NGS)

  Genes: STK11

  Turnaround time: 33 working days

• PHOX2B gene testing (NGS, MLPA)

  Code 3535 · Next-generation sequencing (NGS) + MLPA

  Genes: PHOX2B

  Turnaround time: 33 working days

• Pierson syndrome (LAMB2 gene, NGS)

  Code 11292 · Next-generation sequencing (NGS)

  Genes: LAMB2

  Turnaround time: 33 working days

• Pitt-Hopkins syndrome (TCF4 gene, NGS)

  Code 11293 · Next-generation sequencing (NGS)

  Genes: TCF4

  Turnaround time: 33 working days

• Polyarteritis nodosa / Sneddon syndrome (ADA2 gene, NGS)

  Code 11296 · Next-generation sequencing (NGS)

  Genes: ADA2

  Turnaround time: 33 working days

• Postaxial acrofacial dysostosis - Miller syndrome (DHODH gene, NGS)

  Code 10661 · Next-generation sequencing (NGS)

  Genes: DHODH

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 23 (ARMC4 gene, NGS)

  Code 10726 · Next-generation sequencing (NGS)

  Genes: ARMC4

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 5 (HYDIN gene, NGS)

  Code 10710 · Next-generation sequencing (NGS)

  Genes: HYDIN

  Turnaround time: 33 working days

• Protein C deficiency (PROC gene)

  Code 3146 · Sanger sequencing

  Genes: PROC

  Turnaround time: 33 working days

• Protein S deficiency (PROS1 gene)

  Code 3145 · Sanger sequencing

  Genes: PROS1

  Turnaround time: 33 working days

• Proteus syndrome (AKT1 gene, NGS)

  Code 11306 · Next-generation sequencing (NGS)

  Genes: AKT1

  Turnaround time: 33 working days

• Proteus syndrome (AKT1 gene, sequencing)

  Code 3263 · Sanger sequencing

  Genes: AKT1

  Turnaround time: 33 working days

• Prune belly syndrome (CHRM3 gene, NGS)

  Code 11310 · Next-generation sequencing (NGS)

  Genes: CHRM3

  Turnaround time: 33 working days

• Pseudohypoparathyroidism type 1A (GNAS gene, MLPA)

  Code 3259 · MLPA

  Genes: GNAS

  Turnaround time: 33 working days

• Pseudohypoparathyroidism type 1A (GNAS gene, sequencing)

  Code 3258 · Sanger sequencing

  Genes: GNAS

  Turnaround time: 33 working days

• PTCH1 gene testing (NGS, CNVs)

  Code 3397 · Next-generation sequencing (NGS)

  Genes: PTCH1

  Turnaround time: 20 working days

• Pterygium syndrome (lethal forms) (CHRNA1 gene, NGS)

  Code 11323 · Next-generation sequencing (NGS)

  Genes: CHRNA1

  Turnaround time: 33 working days

• Pterygium syndrome (lethal forms) (CHRND gene, NGS)

  Code 11322 · Next-generation sequencing (NGS)

  Genes: CHRND

  Turnaround time: 33 working days