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

488 tests · Page 15 of 17

• Progressive external ophthalmoplegia (ROBO3 gene, NGS)

  Code 11244 · Next-generation sequencing (NGS)

  Genes: ROBO3

  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

• Prothrombin gene mutation R 20210

  Code 3003 · PCR

  Genes: F2

  Turnaround time: 8 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

• 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

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

  Code 11324 · Next-generation sequencing (NGS)

  Genes: CHRNG

  Turnaround time: 33 working days

• Pycnodysostosis (CTSK gene, NGS)

  Code 11289 · Next-generation sequencing (NGS)

  Genes: CTSK

  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

• Rapid PCR detection of trisomies/monosomies

  Code 1790 · Cytogenetic analysis

  Genes: Aneuploidias frequentes

  Turnaround time: 3 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

• 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

• Schaaf-Yang syndrome (MAGEL2 gene, NGS)

  Code 11339 · Next-generation sequencing (NGS)

  Genes: MAGEL2

  Turnaround time: 33 working days

• Sclerosteosis (SOST gene, NGS)

  Code 10908 · Next-generation sequencing (NGS)

  Genes: SOST

  Turnaround time: 33 working days

• Seckel syndrome (11-gene panel, NGS)

  Code 11340 · Next-generation sequencing (NGS)

  Genes: ATR, ATRIP, CENPJ, CEP152, CEP63, DNA2, NIN, NSMCE2 and 3 more

  Turnaround time: 33 working days

• Septo-optic dysplasia (24-gene panel, NGS)

  Code 10696 · Next-generation sequencing (NGS)

  Genes: ARNT2, CDON, DHCR7, DISP1, FGF8, FGFR1, GAS1, GLI2 and 16 more

  Turnaround time: 33 working days

• Septo-optic dysplasia (HESX1 gene, NGS)

  Code 10695 · Next-generation sequencing (NGS)

  Genes: HESX1

  Turnaround time: 33 working days

• SERENE

  Code 5500 · Direct analysis of cell-free DNA (cfDNA) / NGS

  Turnaround time: 12 working days