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 22 of 26

• Otopalatodigital syndrome type 2 (FLNA gene, NGS)

  Code 11234 · Next-generation sequencing (NGS)

  Genes: FLNA

  Turnaround time: 33 working days

• Papillon-Lefèvre syndrome (CTSC gene, NGS)

  Code 11243 · Next-generation sequencing (NGS)

  Genes: CTSC

  Turnaround time: 33 working days

• Parkinson disease 14 (PLA2G6 gene, NGS)

  Code 11276 · Next-generation sequencing (NGS)

  Genes: PLA2G6

  Turnaround time: 33 working days

• Parkinson disease 1 (SNCA gene, NGS)

  Code 11269 · Next-generation sequencing (NGS)

  Genes: SNCA

  Turnaround time: 33 working days

• Parkinson disease (29-gene panel, NGS)

  Code 3296 · Next-generation sequencing (NGS)

  Genes: ATP13A2, ATP1A3, ATP6AP2, DCTN1, DNAJC6, FBXO7, FTL, FUS and 21 more

  Turnaround time: 33 working days

• Parkinson disease 2 (PARK2 gene, NGS)

  Code 11270 · Next-generation sequencing (NGS)

  Genes: PARK2

  Turnaround time: 33 working days

• Parkinson disease (34-gene panel, NGS)

  Code 3232 · Next-generation sequencing (NGS)

  Genes: ATP13A2, ATP1A3, C19orf12, CSF1R, DCTN1, DNAJC6, FBXO7, FTL, GBA, GCH1, GRN, LRRK2, LYST, MAPT, OPA3, PANK2, PARK7, PINK1, PLA2G6, PRKN, PRKRA, RAB39B, SLC30…

  Turnaround time: 33 working days

• Parkinson disease 4 (SNCA gene, NGS)

  Code 11271 · Next-generation sequencing (NGS)

  Genes: SNCA

  Turnaround time: 33 working days

• Parkinson disease 6 (PINK1 gene, NGS)

  Code 11272 · Next-generation sequencing (NGS)

  Genes: PINK1

  Turnaround time: 33 working days

• Parkinson disease 7 (PARK7 gene, NGS)

  Code 11273 · Next-generation sequencing (NGS)

  Genes: PARK7

  Turnaround time: 33 working days

• Parkinson disease 8 (LRRK2 gene, NGS)

  Code 11274 · Next-generation sequencing (NGS)

  Genes: LRRK2

  Turnaround time: 33 working days

• Parkinson disease 9 (ATP13A2 gene, NGS)

  Code 11275 · Next-generation sequencing (NGS)

  Genes: ATP13A2

  Turnaround time: 33 working days

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

  Code 10729 · Next-generation sequencing (NGS)

  Genes: SLC2A1

  Turnaround time: 33 working days

• Paroxysmal kinesigenic dyskinesia (PKD) (2-gene panel, NGS)

  Code 10727 · Next-generation sequencing (NGS)

  Genes: SLC2A1, PRRT2

  Turnaround time: 33 working days

• Paroxysmal kinesigenic dyskinesia (PKD) (PRRT2 gene, NGS)

  Code 10728 · Next-generation sequencing (NGS)

  Genes: PRRT2

  Turnaround time: 33 working days

• Paroxysmal nonkinesigenic dyskinesia (PNKD gene, NGS)

  Code 10730 · Next-generation sequencing (NGS)

  Genes: PNKD

  Turnaround time: 33 working days

• Partial methylmalonyl-CoA mutase deficiency (MUT gene, NGS)

  Code 10607 · Next-generation sequencing (NGS)

  Genes: MUT

  Turnaround time: 33 working days

• Partington syndrome (ARX gene, NGS)

  Code 11279 · Next-generation sequencing (NGS)

  Genes: ARX

  Turnaround time: 33 working days

• Pelizaeus-Merzbacher disease (PLP1 gene, NGS)

  Code 11281 · Next-generation sequencing (NGS)

  Genes: PLP1

  Turnaround time: 33 working days

• Pelizaeus-Merzbacher-like disease (GJC2 gene, NGS)

  Code 11280 · Next-generation sequencing (NGS)

  Genes: GJC2

  Turnaround time: 33 working days

• Periodic paralysis (gene panel, NGS)

  Code 3452 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Periventricular nodular heterotopia (ARFGEF2 gene, NGS)

  Code 10979 · Next-generation sequencing (NGS)

  Genes: ARFGEF2

  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

• Phakomatoses (27-gene panel, NGS)

  Code 10073 · Next-generation sequencing (NGS)

  Genes: APC, ATM, DICER1, EPCAM, HRAS, IKBKG, LZTR1, MLH1 and 19 more

  Turnaround time: 33 working days

• Phakomatoses and differential diagnosis (26-gene panel, NGS)

  Code 10085 · Next-generation sequencing (NGS)

  Genes: APC, ATM, DICER1, EPCAM, HRAS, IKBKG, LZTR1, MLH1 and 18 more

  Turnaround time: 33 working days

• Phosphoenolpyruvate carboxykinase deficiency (PCK1 gene, NGS)

  Code 10574 · Next-generation sequencing (NGS)

  Genes: PCK1

  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