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 27 of 31

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

  Code 11324 · Next-generation sequencing (NGS)

  Genes: CHRNG

  Turnaround time: 33 working days

• Pulmonary alveolar microlithiasis (SLC34A2 gene, NGS)

  Code 3298 · Next-generation sequencing (NGS)

  Genes: SLC34A2

  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 (ABCA3 gene, NGS)

  Code 10594 · Next-generation sequencing (NGS)

  Genes: ABCA3

  Turnaround time: 33 working days

• Pulmonary surfactant deficiency (CSF2RA gene, NGS)

  Code 10596 · Next-generation sequencing (NGS)

  Genes: CSF2RA

  Turnaround time: 33 working days

• Pulmonary surfactant deficiency (CSF2RB gene, NGS)

  Code 10595 · Next-generation sequencing (NGS)

  Genes: CSF2RB

  Turnaround time: 33 working days

• Pulmonary surfactant deficiency (SFTPB gene, NGS)

  Code 10597 · Next-generation sequencing (NGS)

  Genes: SFTPB

  Turnaround time: 33 working days

• Pulmonary surfactant deficiency (SFTPC gene, NGS)

  Code 10598 · Next-generation sequencing (NGS)

  Genes: SFTPC

  Turnaround time: 33 working days

• Pycnodysostosis (CTSK gene, NGS)

  Code 11289 · Next-generation sequencing (NGS)

  Genes: CTSK

  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 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 agenesis (ITGA8 gene, NGS)

  Code 10186 · Next-generation sequencing (NGS)

  Genes: ITGA8

  Turnaround time: 33 working days

• Renal glucosuria (SLC5A2 gene, sequencing)

  Code 3294 · Sanger sequencing

  Genes: SLC5A2

  Turnaround time: 33 working days

• Rett syndrome (MECP2 gene)

  Code 3177 · Sequencing

  Genes: MECP2

  Turnaround time: 48 working days

• Rett syndrome (MECP2 gene, NGS)

  Code 11333 · Next-generation sequencing (NGS)

  Genes: MECP2

  Turnaround time: 33 working days

• Rett syndrome (MECP2 gene, NGS, MLPA)

  Code 3507 · Next-generation sequencing (NGS) + MLPA

  Genes: MECP2

  Turnaround time: 33 working days

• Rhizomelic chondrodysplasia punctata (PEX7 gene, NGS)

  Code 10503 · Next-generation sequencing (NGS)

  Genes: PEX7

  Turnaround time: 33 working days

• Robinow syndrome (9-gene panel, NGS)

  Code 11336 · Next-generation sequencing (NGS)

  Genes: DVL1, DVL3, FGD1, KDM6A, KMT2D, MID1, ROR2, SPECC1L and 1 more

  Turnaround time: 33 working days

• ROBO3 gene testing (NGS, CNVs)

  Code 3524 · Next-generation sequencing (NGS) + CNVs

  Genes: ROBO3

  Turnaround time: 33 working days

• Rubinstein-Taybi syndrome (2-gene panel, NGS)

  Code 11338 · Next-generation sequencing (NGS)

  Genes: CREBBP, EP300

  Turnaround time: 33 working days

• Rubinstein-Taybi syndrome (CREBBP gene, NGS)

  Code 11337 · Next-generation sequencing (NGS)

  Genes: CREBBP

  Turnaround time: 33 working days

• Ryanodine receptor gene mutation testing

  Code 2455 · PCR

  Genes: RYR1

  Turnaround time: 33 working days

• Schaaf-Yang syndrome (MAGEL2 gene, NGS)

  Code 11339 · Next-generation sequencing (NGS)

  Genes: MAGEL2

  Turnaround time: 33 working days

• Schwannomatosis (SMARCB1 gene, NGS)

  Code 3281 · Next-generation sequencing (NGS)

  Genes: SMARCB1

  Turnaround time: 33 working days

• Sclerosteosis (SOST gene, NGS)

  Code 10908 · Next-generation sequencing (NGS)

  Genes: SOST

  Turnaround time: 33 working days

• SCN9A gene testing (sequencing)

  Code 3352 · Next-generation sequencing (NGS)

  Genes: SCN9A

  Turnaround time: 48 working days

• SDHD gene testing

  Code 3138 · PCR / Sequencing

  Genes: SDHD

  Turnaround time: 33 working days