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

911 tests · Page 26 of 31

• PHOX2B gene testing (NGS, MLPA)

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

  Genes: PHOX2B

  Turnaround time: 33 working days

• Piebaldism (KIT gene, NGS)

  Code 11291 · Next-generation sequencing (NGS)

  Genes: KIT

  Turnaround time: 33 working days

• Pitt-Hopkins syndrome (TCF4 gene, NGS)

  Code 11293 · Next-generation sequencing (NGS)

  Genes: TCF4

  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

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

  Code 10661 · Next-generation sequencing (NGS)

  Genes: DHODH

  Turnaround time: 33 working days

• Postnatal CGH microarray

  Code 3078 · Comparative genomic hybridization

  Genes: CGH

  Turnaround time: 31 working days

• Preauricular tags (36-gene panel, NGS)

  Code 11309 · Next-generation sequencing (NGS)

  Genes: ALX3, ANKRD11, APRT, ARID1B, B3GLCT, BCOR, CCDC22, CDK5RAP2 and 28 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 microcephaly (CDK5RAP2 gene, NGS)

  Code 11125 · Next-generation sequencing (NGS)

  Genes: CDK5RAP2

  Turnaround time: 33 working days

• Primary pigmented nodular adrenocortical disease (PDE11A gene, NGS)

  Code 10165 · Next-generation sequencing (NGS)

  Genes: PDE11A

  Turnaround time: 33 working days

• Primary pigmented nodular adrenocortical disease (PDE8B gene, NGS)

  Code 10166 · Next-generation sequencing (NGS)

  Genes: PDE8B

  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

• 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

• Pseudoachondroplasia (COMP gene, NGS)

  Code 11311 · Next-generation sequencing (NGS)

  Genes: COMP

  Turnaround time: 33 working days

• Pseudohypoparathyroidism (GNAS gene, NGS)

  Code 11319 · Next-generation sequencing (NGS)

  Genes: GNAS

  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