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

221 tests · Page 7 of 8

• Peters anomaly (PAX6 gene, NGS)

  Code 11285 · Next-generation sequencing (NGS)

  Genes: PAX6

  Turnaround time: 33 working days

• Peters anomaly (PITX2 gene, NGS)

  Code 11286 · Next-generation sequencing (NGS)

  Genes: PITX2

  Turnaround time: 33 working days

• Peters-plus syndrome (B3GLCT gene, NGS)

  Code 11287 · Next-generation sequencing (NGS)

  Genes: B3GLCT

  Turnaround time: 33 working days

• Pierson syndrome (LAMB2 gene, NGS)

  Code 11292 · Next-generation sequencing (NGS)

  Genes: LAMB2

  Turnaround time: 33 working days

• Pigmentary retinopathy (EYS gene, NGS)

  Code 3475 · Next-generation sequencing (NGS)

  Genes: EYS

  Turnaround time: 30 working days

• Pitt-Hopkins syndrome (TCF4 gene, NGS)

  Code 11293 · Next-generation sequencing (NGS)

  Genes: TCF4

  Turnaround time: 33 working days

• Posterior polymorphous corneal dystrophy (VSX1 gene, NGS)

  Code 10750 · Next-generation sequencing (NGS)

  Genes: VSX1

  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

• Pseudoxanthoma elasticum (2-gene panel, NGS)

  Code 11320 · Next-generation sequencing (NGS)

  Genes: ABCC6, GGCX

  Turnaround time: 33 working days

• Reis-Bücklers corneal dystrophy, mutations at codons 124 and 555, TGFBI gene

  Code 10748 · Next-generation sequencing (NGS)

  Genes: TGFBI

  Turnaround time: 33 working days

• Reis-Bücklers corneal dystrophy (TGFBI gene, NGS)

  Code 10749 · Next-generation sequencing (NGS)

  Genes: TGFBI

  Turnaround time: 33 working days

• Renal coloboma syndrome (PAX2 gene, NGS)

  Code 10497 · Next-generation sequencing (NGS)

  Genes: PAX2

  Turnaround time: 33 working days

• Retinal dystrophies (gene panel + mtDNA, NGS)

  Code 3467 · Next-generation sequencing (NGS) + mtDNA

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• Retinal macular dystrophy type 2 (PROM1 gene, NGS)

  Code 10755 · Next-generation sequencing (NGS)

  Genes: PROM1

  Turnaround time: 33 working days

• Retinitis pigmentosa (CDHR1 gene, NGS)

  Code 10039 · Next-generation sequencing (NGS)

  Genes: CDHR1

  Turnaround time: 33 working days

• Retinitis pigmentosa (gene panel + mtDNA, NGS)

  Code 3477 · Next-generation sequencing (NGS) + mtDNA

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• Retinoblastoma (hotspots) (RB1 gene, NGS)

  Code 11329 · Next-generation sequencing (NGS)

  Genes: RB1

  Turnaround time: 33 working days

• Retinoblastoma (RB1 gene, NGS)

  Code 10052 · Next-generation sequencing (NGS)

  Genes: RB1

  Turnaround time: 33 working days

• Retinoblastoma (RB1 gene, NGS, MLPA)

  Code 3515 · Next-generation sequencing (NGS) + MLPA

  Genes: RB1

  Turnaround time: 33 working days

• Senior-Loken syndrome (8-gene panel, NGS)

  Code 10077 · Next-generation sequencing (NGS)

  Genes: CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, WDR19

  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

• Smith-Lemli-Opitz syndrome (DHCR7 gene, NGS)

  Code 10093 · Next-generation sequencing (NGS)

  Genes: DHCR7

  Turnaround time: 33 working days

• Sorsby fundus dystrophy (TIMP3 gene, NGS)

  Code 10752 · Next-generation sequencing (NGS)

  Genes: TIMP3

  Turnaround time: 33 working days

• Stargardt disease type 1 (ABCA4 gene, NGS)

  Code 3339 · Next-generation sequencing (NGS)

  Genes: ABCA4

  Turnaround time: 33 working days

• Stickler syndrome (5-gene panel, NGS)

  Code 10080 · Next-generation sequencing (NGS)

  Genes: COL11A1, COL11A2, COL2A1, COL9A1, COL9A2

  Turnaround time: 33 working days

• Thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene, NGS)

  Code 10260 · Next-generation sequencing (NGS)

  Genes: SLC19A2

  Turnaround time: 33 working days

• Trio exome (NGS)

  Code 3290 · Next-generation sequencing (NGS)

  Genes: Exoma Trio (NGS)

  Turnaround time: 33 working days

• Tuberous sclerosis complex (2-gene panel, NGS)

  Code 10907 · Next-generation sequencing (NGS)

  Genes: TSC1, TSC2

  Turnaround time: 33 working days