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

774 tests · Page 23 of 26

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

  Code 11296 · Next-generation sequencing (NGS)

  Genes: ADA2

  Turnaround time: 33 working days

• Polymicrogyria (17-gene panel, NGS)

  Code 11300 · Next-generation sequencing (NGS)

  Genes: ADGRG1, AKT3, FH, GPSM2, KIF1BP, KRT6A, LAMC3, NDE1 and 9 more

  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

• Primary erythromelalgia (SCN10A gene, NGS)

  Code 10889 · Next-generation sequencing (NGS)

  Genes: SCN10A

  Turnaround time: 33 working days

• Primary erythromelalgia (SCN11A gene, NGS)

  Code 10890 · Next-generation sequencing (NGS)

  Genes: SCN11A

  Turnaround time: 33 working days

• Primary erythromelalgia (SCN9A gene, NGS)

  Code 10891 · Next-generation sequencing (NGS)

  Genes: SCN9A

  Turnaround time: 33 working days

• Progressive external ophthalmoplegia (POLG gene, NGS)

  Code 11205 · Next-generation sequencing (NGS)

  Genes: POLG

  Turnaround time: 33 working days

• Progressive external ophthalmoplegia (ROBO3 gene, NGS)

  Code 11244 · Next-generation sequencing (NGS)

  Genes: ROBO3

  Turnaround time: 33 working days

• Progressive myoclonic epilepsy type 3 (KCTD7 gene, NGS)

  Code 10886 · Next-generation sequencing (NGS)

  Genes: KCTD7

  Turnaround time: 33 working days

• Progressive pseudorheumatoid arthropathy, infantile (WISP3 gene, NGS)

  Code 10295 · Next-generation sequencing (NGS)

  Genes: WISP3

  Turnaround time: 33 working days

• Propionic acidemia (2-gene panel, NGS)

  Code 10120 · Next-generation sequencing (NGS)

  Genes: PCCA, PCCB

  Turnaround time: 33 working days

• Propionic acidemia (PCCA gene, NGS)

  Code 10121 · Next-generation sequencing (NGS)

  Genes: PCCA

  Turnaround time: 33 working days

• Propionic acidemia (PCCB gene, NGS)

  Code 10122 · Next-generation sequencing (NGS)

  Genes: PCCB

  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

• Pseudohypoparathyroidism (GNAS gene, NGS)

  Code 11319 · Next-generation sequencing (NGS)

  Genes: GNAS

  Turnaround time: 33 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

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

  Code 11324 · Next-generation sequencing (NGS)

  Genes: CHRNG

  Turnaround time: 33 working days

• Pulmonary alveolar proteinosis (CSF2RA gene, NGS)

  Code 11305 · Next-generation sequencing (NGS)

  Genes: CSF2RA

  Turnaround time: 33 working days

• Pulmonary surfactant deficiency (CSF2RA gene, NGS)

  Code 10596 · Next-generation sequencing (NGS)

  Genes: CSF2RA

  Turnaround time: 33 working days

• Purine nucleoside phosphorylase deficiency (PNP gene, NGS)

  Code 10551 · Next-generation sequencing (NGS)

  Genes: PNP

  Turnaround time: 33 working days

• Pyridoxine-dependent epilepsy (ALDH7A1 gene, NGS)

  Code 10870 · Next-generation sequencing (NGS)

  Genes: ALDH7A1

  Turnaround time: 33 working days

• Pyridoxine-dependent epilepsy (GRIN2A gene, NGS)

  Code 10872 · Next-generation sequencing (NGS)

  Genes: GRIN2A

  Turnaround time: 33 working days

• Pyruvate carboxylase deficiency (PC gene, NGS)

  Code 10587 · Next-generation sequencing (NGS)

  Genes: PC

  Turnaround time: 33 working days

• Pyruvate dehydrogenase E1-alpha deficiency (PDHA1 gene, NGS)

  Code 10588 · Next-generation sequencing (NGS)

  Genes: PDHA1

  Turnaround time: 33 working days

• RASopathies (including Noonan syndrome) (20-gene panel, NGS)

  Code 11185 · Next-generation sequencing (NGS)

  Genes: A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2 and 12 more

  Turnaround time: 33 working days

• RASopathies (WES-based panel, NGS, CNVs)

  Code 3456 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Renal glucosuria (SLC5A2 gene, sequencing)

  Code 3294 · Sanger sequencing

  Genes: SLC5A2

  Turnaround time: 33 working days